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210 variant records found

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID OMIA Phene-Species ID(s) Species Name Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1499 OMIA:002589-8839 Mallard Blue eggshell ABCG2 regulatory Naturally occurring variant no BGI_duck1.0 NW_004676534.1 g.[3573054A>G;3573085A>G] The BGI_duck1.0 reference genome represents the blue eggshell genotype. 2020 33186356
1177 OMIA:001089-9542 Japanese macaque Antigen B ABO haplotype Naturally occurring variant no Allele B reflects the peptide haplotype p.266Met + p.268Ala 2000 10984838
20 OMIA:001089-9541 crab-eating macaque A antigen ABO haplotype Naturally occurring variant no p.266L + p.268G Allele A is reflected in the peptide haplotype p.266Leu + p.268Gly 1998 9583803
21 OMIA:001089-9544 Rhesus monkey Antigen A ABO haplotype Naturally occurring variant no p.266L + p.268G Allele A is reflected in the peptide haplotype p.266Leu + p.268Gly 1998 9583803
1175 OMIA:001089-9541 crab-eating macaque B antigen ABO haplotype Naturally occurring variant unknown p.266M + p.268A Allele B is a reflection of the peptide haplotype p.266Met + p.268Ala 1998 9583803
1174 OMIA:001089-9544 Rhesus monkey Antigen B ABO haplotype Naturally occurring variant no p.266M + p.268A Allele B is a reflection of the peptide haplotype p.266Met + p.268Ala 1998 9583803
22 OMIA:001089-9579 agile gibbon Alleles A and B ABO missense Naturally occurring variant no c.2178C>A and c.2185G>C Haplotype c.2178C + c.2185G is allele A; haplotype c.2178A + c.2185C is allele B 2009 19298858
23 OMIA:001089-9580 common gibbon Blood group system ABO ABO missense Naturally occurring variant no c.2178C>A and c.2185G>C 2009 19298858
532 OMIA:001089-9598 chimpanzee O (lack of antigen) ABO O^del deletion, small (<=20) Naturally occurring variant no c.514_522delGTGCTGGAG p.(V172-E174del) 1999 10380696
24 OMIA:001089-9598 chimpanzee O (lack of antigen) ABO O^x missense Naturally occurring variant no c.791A>C p.(Y264C) 1999 10380696
1060 OMIA:001271-9915 indicine cattle (zebu) Miniature Zebu, United Kingdom of Great Britain and Northern Ireland (Cattle) Bulldog calf ACAN insertion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 21 g.20428539_20428540insC c.5688_5689insC p.(V1897fs*9) cDNA position based on transcript NM_173981.2 2018 30305023
1321 OMIA:002200-9915 indicine cattle (zebu) Brahman (Cattle) Nellore, India (Sheep) Darkness of hair coat ASIP delins, gross (>20) Naturally occurring variant unknown 13 1155-bp deletion followed by an insertion of a transposable element of more than 150 bp that may impact the recruitment of ASIP non-coding exons (Trigo et al.2021) 2021 33910501
665 OMIA:000201-10042 North American deer mouse New Hampshire (Chicken) Melanic (non-agouti) ASIP deletion, gross (>20) Naturally occurring variant no "a 125-kb deletion, which includes the upstream regulatory region and exons 1 and 2 of Agouti, results in a loss of Agouti expression" 2009 19649329
1075 OMIA:001602-93934 Japanese quail Feather colour, fawn-2/beige ASIP Y^f2 duplication Naturally occurring variant no 20 Robic et al. (2019) concluded "that fawn-2 and beige are the same allele, and that it is caused by a 70,895-bp tandem duplication . . . [with breakpoints] (NC-029535 [1,371,395(or 98)–1,442,295 (or 98)]) . . . located downstream of the ITCH exon 1 and upstream of the ASIP exon e4 (5′ UTR). . . . The 70,895 bp of the duplicated region include the entire AHCY gene on one strand, and parts of the ASIP and ITCH genes on the other strand." 2019 30987584
251 OMIA:000201-61386 Kodkod Melanism (black coat) ASIP missense Naturally occurring variant no p.(C126Y) 2015 25695801
252 OMIA:000201-61406 Colocolo Melanism (black coat) ASIP missense Naturally occurring variant no p.(R120C) 2015 25695801
1119 OMIA:000201-10141 domestic guinea pig Recessive black Asip deletion, small (<=20) Naturally occurring variant no c.181_184delTTCA MH026115: c.181_184delTTCA; the deletion leads to a truncated protein of 77 amino acids due to the premature stop codon. 2019 30746725
330 OMIA:000201-10042 North American deer mouse Alaska, United States of America (North American deer mouse) Melanic (non-agouti) ASIP nonsense (stop-gain) Naturally occurring variant no c.193?>? p.(Q65*) 2009 19649329
333 OMIA:000201-9691 leopard Coat colour, black (black panther) ASIP nonsense (stop-gain) Naturally occurring variant no c.333C>A p.(C111*) 2012 23251368
1219 OMIA:000201-9858 Western roe deer Melanistic (black) ASIP missense Naturally occurring variant no c.33G>T p.(L11F) 2020 32545389
149 OMIA:000201-9793 ass (donkey) Âne de Provence, France (Ass) Âne normand, France (Ass) Dezhou, China (Ass) Miniature, United States of America (Ass) No light points ASIP NLP missense Naturally occurring variant no c.349T>C p.(C117R) 2015 25887951
1587 OMIA:000201-9691 leopard Coat colour, black (black panther) ASIP missense Naturally occurring variant no c.353C>A p.(C113F) 2023 37440497
1666 OMIA:000201-10007 tassel-eared squirrel Coat colour, black ASIP missense Naturally occurring variant no c.370T>C p.(C124R) 2024 38396615
504 OMIA:001602-93934 Japanese quail Feather colour, recessive black ASIP rb deletion, small (<=20) Naturally occurring variant no 20 c.373_380del "A deletion of 8 bases was found in the ASIP gene" 2008 18287406
253 OMIA:000201-61455 Asiatic golden cat Black ASIP missense Naturally occurring variant no c.384C>G p.(C128W) 2012 23251368
1010 OMIA:000201-9838 Arabian camel Black and dark-brown coat colour ASIP haplotype Naturally occurring variant no c.[23delT;c.25G>A] KU179868; c.[23delT;c.25G>A]. As described by Almathen et al. (2018), this haplotype comprises "a 1-bp deletion (23delT/T) and a SNP (25G/A) in exon 2 of ASIP". 2018 29893870
654 OMIA:001602-93934 Japanese quail Feather colour, lethal yellow ASIP Y deletion, gross (>20) Naturally occurring variant yes 20 g.1463709_1604872del Nadeau et al. (2008): "a >90-kb [141162bp] deletion upstream of ASIP" 2008 18287407 The g. coordinates were provided by Robic et al. (2019)
667 OMIA:000201-9627 red fox Dark Standard Silver ASIP deletion, gross (>20) Naturally occurring variant no VulVul2.2 NW_020356514.1 A 16.5-kb deletion resulting in "a 166-nt deletion in the Standard Silver fox cDNA, spanning the second exon ... .This deletion removes the start codon and entire signal peptide" 1997 9054949
1076 OMIA:001645-10036 golden hamster Black tremor Atrn insertion, gross (>20) Naturally occurring variant yes Kuramoto et al. (2002): "an approximately 10-kb DNA fragment, which had 557-bp direct repeats in both ends and was flanked by the identical 6-bp target duplication sequences, [that] was inserted into exon 24" 2002 11773967
1131 OMIA:002216-9544 Rhesus monkey Bardet-Biedl syndrome 7 BBS7 deletion, small (<=20) Naturally occurring variant yes Mmul_8.0.1 c.160delG p.(A54fs) 2019 31589838
1375 OMIA:002466-48883 OMIA:002466-48882 OMIA:002466-87173 OMIA:002466-48884 OMIA:002466-48885 OMIA:002466-48886 OMIA:002466-1553461 medium ground-finch Beak colour, yellow BCO2 synonymous Naturally occurring variant no 24 g.6166878G>A p.(V?V) synonymous change 32 bp into exon 4 2021 34687609
1559 OMIA:002466-9135 common canary Beak and leg colour, red BCO2 missense Naturally occurring variant no NW_022042652.1 g.75258192G>A p.R413H 2020 31930402 XP_009096268.1, genomic position as reported by Bovo et al. (2023) PMID:37194440
1490 OMIA:002573-151761 yellow-crowned parrot Lewy body-like disease CADPS2 missense Naturally occurring variant yes c.1675G>C p.(V559L) 2022 36086934
516 OMIA:001416-9612 gray wolf Coat colour, dominant black CBD103 K^B deletion, small (<=20) Naturally occurring variant no 3bp deletion of the CBD103 gene 2009 19197024
520 OMIA:001416-9614 coyote Coat colour, dominant black CBD103 deletion, small (<=20) Naturally occurring variant no 3bp deletion of the CBD103 gene 2009 19197024
1340 OMIA:002386-9544 Rhesus monkey OKT4 epitope deficiency CD4 missense Naturally occurring variant unknown 11 c.C793T p.(A265W) 2021 33893743
863 OMIA:001890-198806 ruff Male body size/courtship behaviour CENPN inversion Naturally occurring variant unknown "a 4.5Mb inversion on the ruff orthologue of chicken chromosomr GGA11 which, due to the well-known lethality of recombinants within an inversion, has created a supergene determining male breeding behaviour, body size and plumage colour" 2016 26569123
490 OMIA:000685-9915 indicine cattle (zebu) Brahman (Cattle) Myasthenic syndrome, congenital, CHRNE-related CHRNE 470del20 deletion, small (<=20) Naturally occurring variant yes ARS-UCD1.2 19 g.26485848_26485867del c.470_489del Kraner et al. (2002): "a loss of 20 bp within the coding sequence of exon 5 (Fig. 2), between nucleotide 469 and 490 (nucleotide numbering referring to the cDNA sequence published under accession number X02597". These authors (and subsequent authors) call this variant "470del20". The current (2020) HGVS nomenclature is c.470_489del 200922: g. information move here (g.27119615) until standardised rs5334475050 2002 12481987 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446. The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.
399 OMIA:000698-89462 water buffalo Murrah (Buffalo) Myotonia CLCN1 splicing Naturally occurring variant yes c.396C>T 2013 23339992
1030 OMIA:001962-9542 Japanese macaque Neuronal ceroid lipofuscinosis, 7 CLN7 deletion, small (<=20) Naturally occurring variant yes 4 c.769delA p.(I257Lfs*36) 2018 30048804
1506 OMIA:001274-452646 American mink Coat colour, black crystal COPA missense Naturally occurring variant unknown NNQGG.v01 FNWR01000261.1 g.4876673G>A c.478C>T p.(R160C) 2022 35729186
1012 OMIA:002159-9694 tiger Golden tiger CORIN missense Naturally occurring variant no c.1759C>T p.(H587Y) 2017 28281538
1491 OMIA:001643-10036 golden hamster duper Cry1 deletion, small (<=20) Naturally occurring variant unknown c.578del p.(P193fs) published as c.578delC 2022 35471909
1176 OMIA:000168-10141 domestic guinea pig Cataract Cryz splicing Naturally occurring variant yes "a 102-bp deletion towards the 3' end of the coding region. This deletion does not interfere with the reading frame but results in a protein 34 amino acids shorter." (Rodriguez et al., 1992) 1992 1390943
1335 OMIA:002377-8845 swan goose Lion Head (Goose (domestic)) Sichuan White, China (Goose (domestic)) Knob, basal DIO2 missense Naturally occurring variant no AnsCyg_PRJNA183603_v1.0 NW_013185827.1 g.642923G>A p.(P265L) 2021 34193033
724 OMIA:001695-8090 Japanese medaka Reduced scale-3 edar insertion, gross (>20) Naturally occurring variant yes "several kb of extra sequence in the 5' UTR that . . . contains out-of-frame start codons and stop codons, [and consequently] the mutant transcript is likely to result in premature initiation and termination of translation and, as a result, the EDAR protein is not synthesized" 2001 11516953
1632 OMIA:000375-8932 rock pigeon Piebald EDNRB2 Group 4 duplication Naturally occurring variant yes tandem duplication of a 37-kb region spanning from intron 1 of VAMP7 to just 5’ of EDNRB2 2023 37546953
1631 OMIA:000375-8932 rock pigeon Piebald EDNRB2 Group2 missense Naturally occurring variant yes p.(A42E) 2023 37546953
1630 OMIA:000375-8932 rock pigeon Piebald EDNRB2 Group1 missense Naturally occurring variant yes p.(R290C) 2023 37546953
1562 OMIA:002701-51751 ball python Skin colour, EDNRB2-related EDNRB2 yellowbelly deletion, small (<=20) Naturally occurring variant unknown c.1646del OP589186.1; 1-bp deletion introduces a frameshift, which removes or alters three of the seven transmembrane helices 2023 37191439
1563 OMIA:002701-51751 ball python Skin colour, EDNRB2-related EDNRB2 yellowbelly deletion, small (<=20) Naturally occurring variant unknown c.1747_1763del OP589186.1; "17-bp deletion introduces a frameshift into the transcript, which removes or alters two of the seven transmembrane helices" 2023 37191439
1564 OMIA:002701-51751 ball python Skin colour, EDNRB2-related EDNRB2 specter missense Naturally occurring variant unknown c.2601G>C p.(R315P) OP589186.1 2023 37191439
1567 OMIA:002701-51751 ball python Skin colour, EDNRB2-related EDNRB2 asphalt splicing Naturally occurring variant unknown c.3118G>A OP589186.1; G-to-A substitution in the sixth splice donor for the sixth intron 2023 37191439
1565 OMIA:002701-51751 ball python Skin colour, EDNRB2-related EDNRB2 spark missense Naturally occurring variant unknown c.481G>C p.(L152F) OP589186.1 2023 37191439
1566 OMIA:002701-51751 ball python Skin colour, EDNRB2-related EDNRB2 gravel splicing Naturally occurring variant unknown c.499G>A OP589186.1; G-to-A substitution at the splice donor for the first intron 2023 37191439
257 OMIA:000375-93934 Japanese quail Feather colour, panda/dotted white EDNRB2 missense Naturally occurring variant no c.995G>A p.(R332H) 2007 17313575
1633 OMIA:000375-8932 rock pigeon Recessive white and bull eye EDNRB2 missense Naturally occurring variant no scaffold 507 g.11167700C>T p.(E256K) 2023 37546953
1164 OMIA:001252-8843 domestic goose Gang, China (Goose (domestic)) Feather colour, recessive white EDNRB2 insertion, small (<=20) Naturally occurring variant no AnsCyg_PRJNA183603_v1.0 g.750748_750735insCACAGGTGAGCTCT "NW_013185915.1: g. 750,748-750,735 insertion. CACAGGTGAGCTCT" (Xi et al., 2020) 2020 32066369
1 OMIA:000240-8932 rock pigeon Crest EPHB2 cr missense Naturally occurring variant no c.???C>T p.(R758C) 2013 23371554
148 OMIA:000361-9783 Asiatic elephant Factor VII deficiency F7 missense Naturally occurring variant yes c.202A>G p.(R68G) 2017 28118558
983 OMIA:000439-9844 llama Long hair FGF5 complex rearrangement Naturally occurring variant no A "a single base deletion (c.348delA), [and] a 12-bp insertion (c.351_352insCATATAACATAG)" that comprise a single likely causal variant 2017 29024003
347 OMIA:000439-9793 ass (donkey) Hair, long FGF5 nonsense (stop-gain) Naturally occurring variant no c.245G>A 2014 25927731
982 OMIA:000439-10141 domestic guinea pig Long hair Fgf5 nonsense (stop-gain) Naturally occurring variant no c.403C>T p.(R135*) "The data were submitted to the European Variation Archive (accession no. PRJEB24997)" 2018 29603294
560 OMIA:000439-9793 ass (donkey) Hair, long FGF5 deletion, small (<=20) Naturally occurring variant no c.433_434delAT 2014 25927731
984 OMIA:000439-9844 llama Long hair FGF5 nonsense (stop-gain) Naturally occurring variant no c.499C>T 2017 29024003
559 OMIA:000439-10036 golden hamster Hair, long Fgf5 deletion, small (<=20) Naturally occurring variant no c.546delG p.(R184GfsX6) 2015 26481120
1343 OMIA:000439-9838 Arabian camel Long hair FGF5 missense Naturally occurring variant no CamDro3 2 g.76625546C>T c.779C>T p.(P260L) cDNA and protein positions based on transcript ENSCDRT00005003721.1 2021 34432312
517 OMIA:000578-9544 Rhesus monkey Krabbe disease GALC deletion, small (<=20) Naturally occurring variant yes c.387delAC 1997 9192853
190 OMIA:001473-9915 indicine cattle (zebu) Brahman (Cattle) Dwarfism, growth-hormone deficiency GH1 missense Naturally occurring variant yes c.641C>T p.(T200M) Bos indicus cDNA position based on AF034386, protein position based on AAB92549 2009 19524387 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
677 OMIA:001920-27706 largemouth bass Abortion due to deletion in GHRH GHRH deletion, gross (>20) Naturally occurring variant yes a 66bp deletion (c.-923_-858del) in the 5' flanking region of the GHRH gene in an autosomal recessive embryonic lethal 2014 24697798
1178 OMIA:001461-9217 American flamingo Tay-Sachs disease HEXA missense Naturally occurring variant yes c.1406C>T p.(P469L) 2008 18693054
1584 OMIA:001243-9601 Sumatran orangutan Alkaptonuria HGD missense Naturally occurring variant yes Susiae_PABv2/ponAbe3 3 g.17314095G>A c.1081G>A p.(G361R) 2023 37354891
789 OMIA:002116-69293 three-spined stickleback Coat colour, albinism, oculocutaneous, HPS5-related Hps5 casper insertion, small (<=20) Naturally occurring variant yes "casper mutants have an insertion of a single nucleotide in the 6th exon of Hsp5, predicted to generate an early frameshift" 2017 28739598
331 OMIA:001348-9544 Rhesus monkey Atrichia with papular lesions HR nonsense (stop-gain) Naturally occurring variant yes MMUL_1 8 g.22046679C>T c.1831C>T p.(R611*) 2002 11831740 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1622 OMIA:002763-9541 crab-eating macaque Severe combined immunodeficiency disease IL2RG nonsense (stop-gain) Base-editing yes Macaca_fascicularis_5.0 X g.68110639G>A c.391C>T p.(Q131*) XM_005593892.2; XP_005593949.1 2023 37661226
962 OMIA:001675-61379 black-footed cat Cone-rod dystrophy 2 IQCB1 deletion, small (<=20) Naturally occurring variant yes c.1282delCT p.(L428*) 2017 28322220
1525 OMIA:001652-9627 red fox Platinum coat colour KIT splicing Naturally occurring variant yes G>A variant in the first nucleotide of KIT intron 17 causes skipping of exon 17 2015 25662789
566 OMIA:001737-9838 Arabian camel Coat colour, white spotting, KIT-related KIT deletion, small (<=20) Naturally occurring variant no c.1842delG p.(M614Ifs*5) 2017 28282952
403 OMIA:000209-494514 Arctic fox Coat colour, dominant white KIT splicing Naturally occurring variant no c.1867+1G>T 2013 24308634
405 OMIA:001737-9793 ass (donkey) Coat colour, white spotting, due to KIT KIT Ws splicing Naturally occurring variant no c.1978+2T>A 2015 25818843
1102 OMIA:000209-30538 alpaca Classic grey coat colour KIT missense Naturally occurring variant no c.376G>A p.(G126R) 2019 31297861
150 OMIA:000209-9793 ass (donkey) Coat colour, dominant white KIT W missense Naturally occurring variant no c.662A>C p.(Y221S) 2015 25818843
1505 OMIA:000449-452646 American mink Shadow coat colour KIT S^h missense Naturally occurring variant unknown NNQGG.v01 NWR01000037.1 g.6253028G>T c.2374G>T p.(D792Y) 2022 35481560
1152 OMIA:002237-8090 Japanese medaka Few melanophore kitlga insertion, gross (>20) Naturally occurring variant no Otsuki et al. (2020): "the phenotype of fm medaka is attributable to insertion of a Tcb1-like transposon at the kitlga locus" 2020 31757930
1556 OMIA:000499-9544 Rhesus monkey Hypercholesterolaemia LDLR nonsense (stop-gain) Naturally occurring variant yes 19 p.(W284*) G>A in exon 6 in position 914 of the human cDNA resulting in p.(W284*) 1990 2326270
1557 OMIA:000499-9544 Rhesus monkey Hypercholesterolaemia LDLR missense Naturally occurring variant yes 19 c.245G>A p.(C82Y) 2023 37186395
1046 OMIA:001701-13146 budgerigar Feater colour, blue LOC101880715 missense Naturally occurring variant no 1 p.(R644W) 2017 28985565
605 OMIA:001721-32536 cheetah Coat colour, king LVRN insertion, small (<=20) Naturally occurring variant no p.(N977Kfs*110) 2012 22997338
1348 OMIA:002431-9694 tiger Pseudomelamism LVRN missense Naturally occurring variant no PanTig1.0 A1 c.1360C>T p.H454Y Sagar et al. (2021): "[Assembly PanTig1.0(GCF_000464555.1)]. . . . (Taqpep c.1360C > T); XP_007086933.1) of the protein (Taqpep p.H454Y)" 2021 34518374
518 OMIA:000185-452646 American mink Chediak-Higashi syndrome LYST deletion, small (<=20) Naturally occurring variant yes c.9468delC 2013 22762706
1359 OMIA:002449-94885 corn snake Skin colour, lavender LYST nonsense (stop-gain) Naturally occurring variant no c.9508C>T p.(Q3169*) 2020 33020272
249 OMIA:000625-10141 domestic guinea pig Mannosidosis, alpha Man2b1 missense Naturally occurring variant yes c.679C>T p.(R227W) 2002 11959458
1646 OMIA:002804-9544 Rhesus monkey Germline mutation rate MBD4 deletion, small (<=20) Naturally occurring variant unknown MMul10 2 g.147059371del c.984del p.I330Sfs*2 ENSMMUG00000012723 2023 37984997
1007 OMIA:001199-10141 domestic guinea pig Brown coat colour MC1R e (MC1R*4) deletion, gross (>20) Naturally occurring variant no Vidal (2018): "a deletion of 2760 bp, including the entire MC1R coding region" 2018 30101449
674 OMIA:001199-30640 gray squirrel Melanism (black) MC1R E^B deletion, gross (>20) Naturally occurring variant no MC1RΔ24 allele E^B ["at amino acid positions 87-94"] 2009 19643815
250 OMIA:001199-46844 Geoffroy's cat Melanism (black coat) MC1R missense Naturally occurring variant no p.(C125R) 2015 25695801
1002 OMIA:002156-46218 Chinese painted quail Feather colour, Blue Face MC1R missense Naturally occurring variant no p.(E92K) 2018 29974967
1328 OMIA:000374-495946 Eleonora's falcon Feather colour, extended black MC1R deletion, small (<=20) Naturally occurring variant no p.(M114_V117del) 2011 21696477
1100 OMIA:000374-57662 red-footed booby White plumage MC1R haplotype Naturally occurring variant no p.(M85V) + p.(R207H) 2007 17602182
1003 OMIA:002155-46218 Chinese painted quail Feather colour, Red Breasted MC1R missense Naturally occurring variant no p.(P292L) 2018 29974967
1173 OMIA:001199-37349 woolly mammoth Light hair colour MC1R missense Naturally occurring variant no p.(R67C) 2006 16825562
1101 OMIA:000374-70340 Lesser snow goose Blue plumage MC1R missense Naturally occurring variant no p.(V85M) 2004 15031505
262 OMIA:001199-494514 Arctic fox Blue coat colour MC1R Ed missense Naturally occurring variant no p.[(G5C);(F280C)] The blue (Ed) allele is a haplotype comprising two missense variants (p.Gly5Cys and p.Phe280Cys) (Våge et al., 2005) 2005 15982782
1271 OMIA:001199-30532 fallow deer White coat colour MC1R missense Naturally occurring variant no c.143T>C p.(L48P) NM_174108.2:c.143T>C; NP_776533.1:p.(L48P) 2020 33213385
180 OMIA:001199-9870 reindeer Coat colour, extension MC1R missense Naturally occurring variant no c.218T>C p.(M73T) 2014 25039753
18 OMIA:001494-9103 turkey Feather colour, dominant black MC1R missense Naturally occurring variant no c.364A>T p.(I122F) 2010 20634512
1329 OMIA:000374-120794 gyrfalcon Feather colour, extended black MC1R missense Naturally occurring variant no c.376A>G p.(I126V) 2012 22497627
996 OMIA:001199-9793 ass (donkey) Âne normand, France (Ass) Miniature, United States of America (Ass) Red coat colour MC1R e missense Naturally occurring variant no c.629T>C p.(M210T) 2014 25155046
1006 OMIA:001199-10141 domestic guinea pig Brown coat colour MC1R e (MC1R*2) missense Naturally occurring variant no c.749T>C p.(L250Q) 2018 30101449
181 OMIA:001199-9870 reindeer Coat colour, extension MC1R missense Naturally occurring variant no c.839T>G p.(F280C) 2014 25039753
1346 OMIA:001199-37190 antarctic fur seal Hypopigmentation (blond) MC1R missense Naturally occurring variant unknown c.872C>T p.(S291F) 2016 27547348
19 OMIA:001494-9103 turkey Feather colour, black-wing bronze MC1R missense Naturally occurring variant no c.887C>T p.(A296V) 2010 20634512
1009 OMIA:001199-9838 Arabian camel White coat colour MC1R missense Naturally occurring variant no c.901C>T p.(R301C) KU179867; c.901C>T; p.R301C 2018 29893870
328 OMIA:001494-9103 turkey Bronze feathers MC1R nonsense (stop-gain) Naturally occurring variant no c.96G>A 2010 20634512
256 OMIA:001435-93934 Japanese quail Feather colour, extended brown MC1R missense Naturally occurring variant no c.?G>A p.(E92K) 2006 16734695
115 OMIA:001199-9627 red fox Coat colour, extension MC1R E^A missense Naturally occurring variant no VulVul2.2 NW_020356486.1 g.6101019T>C c.373T>C p.(C125R) XM_026005028.1; XP_025860813.1 1997 9054949
1287 OMIA:002309-9646 giant panda Cataract MIP missense Naturally occurring variant yes c.686G>A p.(S229N) 2021 33530927
385 OMIA:001401-10036 golden hamster Waardenburg syndrome, type 2A MITF splicing Naturally occurring variant yes A T>A base substitution in intron 6 of MITF leads to the skipping of exon 7 and a premature termination. 2003 12871913
503 OMIA:000915-93934 Japanese quail Feather colour, silver MITF deletion, small (<=20) Naturally occurring variant no "a two-base deletion resulting in premature termination of the polypeptide in the region following the zipper region" = 2 bp deletion in exon 11 1998 9576828
505 OMIA:000755-93934 Japanese quail Osteopetrosis MITF deletion, small (<=20) Naturally occurring variant yes same MITF variant as for silver, as reported in 1998 2001 11169846
341 OMIA:000214-89462 water buffalo Swamp buffalo (Buffalo) White spotting MITF nonsense (stop-gain) Naturally occurring variant no c.328C>T p.(R110*) 2015 26417640
409 OMIA:000214-89462 water buffalo Swamp buffalo (Buffalo) White spotting MITF splicing Naturally occurring variant no c.840+2T>A 2015 26417640
1205 OMIA:001680-452646 American mink Hedlund MITF h splicing Naturally occurring variant yes MusPutFur1.0.86 c.33+1G>A GL896899.1:18635719 G/A (MITF-M C.33 + 1 G > A (Manakhov et al., 2017) 2019 30872653
1209 OMIA:001654-8932 rock pigeon Almond MLANA st repeat variation Naturally occurring variant yes "The CNV captures a 77-kb segment of the reference genome (ScoHet5_227: 5,181,467–5,259,256), with an additional increase in coverage in a nested 25-kb segment (ScoHet5_227: 5,201,091–5,226,635). Read-depth analysis confirmed 7 copies of the outer 77-kb segment and 14 copies of the inner 25-kb segment in the genomes of female (ZStW) Almond pigeons, which have an St locus on only one chromosome. We used PCR to amplify across the outer and inner CNV breakpoints of Almond pigeons and determined that the CNV consists of tandem repeats of the 77-kb and nested 25-kb segments (Fig 3)." (Bruders et al., 2020) 2020 32433666
1014 OMIA:002145-9544 Rhesus monkey Colorectal cancer, MLH1-related MLH1 nonsense (stop-gain) Naturally occurring variant yes 2 c.1029C<G p.(Y343*) Dray et al. (2018): "a de novo stop codon in the coding region of MLH1. This de novo stop codon occurs in exon 11 out of 19 in the MLH1 gene, and thus would produce a dramatically truncated and possibly non-functional protein". Ozirmak Lermi et al. (2022) reported the c. and p. coordinates of this variant. 2018 30108684
1013 OMIA:002145-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MLH1-related MLH1 deletion, small (<=20) Naturally occurring variant yes 2 g.99561829_99561830del Brammer et al. (2018): "a heterozygous deletion in the putative promoter region of the MLH1 gene (rheMac2: 2:99,561,829– 99,561,830; hg19: ∼3:37,034,780; c.−258_259)" 2018 29490919
653 OMIA:001445-93934 Japanese quail Feather colour, lavender MLPH deletion, gross (>20) Naturally occurring variant no a large deletion in the region of the quail MLPH gene 2002 12011184
672 OMIA:000031-452646 American mink Coat colour, silver-blue MLPH deletion, gross (>20) Naturally occurring variant no deletion of exon 8 2013 23747352
1617 OMIA:002758-51751 ball python Skin colour, Ghost MLPH delins, small (<=20) Naturally occurring variant no c.4919_4923del p.(Q350Ilefs*15) OR035642 2023 37637270
1204 OMIA:000031-452646 American mink Silverblue MLPH p splicing Naturally occurring variant no MusPutFur1.0.86 g.662639G>A c.901+1G>A GL896909.1:662639 G/A (MLPH C.901 + 1 G > A) (Manakhov et al., 2019) 2019 30872653
1561 OMIA:001445-9135 common canary Feather colour, Opal / Mogno MLPH deletion, small (<=20) Naturally occurring variant no NW_022042652.1 g.66493407_66493413del p.(A237fs) XP_009086443.1 2023 37194440
1560 OMIA:001445-9135 common canary Feather colour, Onyx MLPH missense Naturally occurring variant no NW_022042652.1 g.66497548C>T p.(R111K) XM_009088195.3; XP_009086443.1 2023 37194440
1015 OMIA:002160-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MSH6-related MSH6 missense Naturally occurring variant unknown Dray et al. (2018): "a heterozygous missense mutation in MSH6 that has a CADD score of 22.8, indicating that it would be among the <1% most deleterious mutations possible in the human genome (if that variant occurred in the human MSH6 gene" 2018 30108684
519 OMIA:001342-8790 emu Mucopolysaccharidosis IIIB NAGLU deletion, small (<=20) Naturally occurring variant yes c.1098_1099delGG 2001 11414757
1064 OMIA:002189-8932 rock pigeon Barless NDP c start-lost Naturally occurring variant no Cliv_1.0 Vickrey et al. (2018): "a nonsynonymous protein-coding change at the start codon of NDP". 2018 30014848
316 OMIA:000545-93934 Japanese quail Hypotrophic axonopathy NEFL nonsense (stop-gain) Naturally occurring variant yes c.352C>T p.(Q114*) 1993 8468353
865 OMIA:002130-94885 corn snake Coat colour, oculocutaneous albinism, OCA2-related OCA2 insertion, gross (>20) Naturally occurring variant yes LTR retrotransposon in the 11th intron 2015 26597053
1602 OMIA:002130-9544 Rhesus monkey Coat colour, oculocutaneous albinism OCA2 missense Naturally occurring variant yes c.2363C>T p.(S788L) 2020 32259106
1022 OMIA:002163-9544 Rhesus monkey Cone dystrophy 4, PDE6C-related PDE6C missense Naturally occurring variant yes Mmul_8.0.1 9 p.(R565Q) 2019 30667376
1212 OMIA:002270-8932 rock pigeon Feathered shank PITX1 deletion, gross (>20) Naturally occurring variant no "a 44-kb deletion (from 6.719–6.763 Mb)" (Domyan et al., 2016) 2016 26977633
540 OMIA:001545-30521 domestic yak Coat colour, dilution PMEL deletion, small (<=20) Naturally occurring variant no c.50_52del p.(L18del) 2014 24989079
1071 OMIA:002191-93934 Japanese quail Yellowish plumage PMEL nonsense (stop-gain) Naturally occurring variant no g.811370G>A p.(W149*) Ishishita et al. (2018): g.811370G>A (NC_029544.1); Trp149* 2018 30425278
845 OMIA:000483-30521 domestic yak Polled, Mongolian allele POLLED P[sub]M or P[sub]219ID complex rearrangement Naturally occurring variant no "a complex 219-bp duplication-insertion (P219ID) beginning at 1,976,128 bp and a 7-bp deletion and 6-bp insertion (P1ID) located 621 bp upstream of this position . . . . This rearrangement results in duplication of an 11-bp motif (5'-AAAGAAGCAAA-3') that is entirely conserved among Bovidae . . . and that is also duplicated in the 80-kb duplication responsible for Friesian polledness" 2017 28135247
977 OMIA:000380-9103 turkey Feathering, Z-linked PRLR deletion, small (<=20) Naturally occurring variant unknown Turkey_5.1 Z g.9426018_9426022delTTGGT p.(E726Dfs*7) 2018 29566646
1507 OMIA:000944-447135 Bank vole Susceptibility to atypical scrapie PRNP missense Naturally occurring variant yes p.(M109I) 2022 35731839
1256 OMIA:002292-452646 American mink Moyle coat colour RAB38 deletion, small (<=20) Naturally occurring variant no NNQGG.v01 1 g.16075438_16075453del c.574-589del "We identified a homozygous 16-bp deletion [FNWR01000007.1:16075438–16075453del (RAB38:c.574-589del)], hereinafter referred to as RAB383del, in the Moyle sample, at the third exon of RAB38 gene. We found a homozygous 2-bp duplication NWR01000007.1:16132224_16132225dupCT (RAB38:c.20-21dup)], hereinafter referred to as RAB381dup, in the Violet sample, at the first exon of the RAB38 gene. Both mutations potentially resulted in the loss of function of RAB38 protein" (Manakhov et al., 2020) 2020 32985525
1257 OMIA:002292-452646 American mink Moyle coat colour RAB38 duplication Naturally occurring variant no NNQGG.v01 1 g.16132224_16132225dupCT c.20-21dup "We identified a homozygous 16-bp deletion [FNWR01000007.1:16075438–16075453del (RAB38:c.574-589del)], hereinafter referred to as RAB383del, in the Moyle sample, at the third exon of RAB38 gene. We found a homozygous 2-bp duplication NWR01000007.1:16132224_16132225dupCT (RAB38:c.20-21dup)], hereinafter referred to as RAB381dup, in the Violet sample, at the first exon of the RAB38 gene. Both mutations potentially resulted in the loss of function of RAB38 protein" (Manakhov et al., 2020) 2020 32985525
1621 OMIA:002763-9541 crab-eating macaque Severe combined immunodeficiency disease RAG1 nonsense (stop-gain) Base-editing yes Macaca_fascicularis_5.0 14 g.30840789G>T c.181C>T p.(Q61*) XM_005578172.2; XP_005578229.1 2023 37661226
1099 OMIA:002209-7950 Atlantic herring Adaptation to a red-shifted light environment rho missense Naturally occurring variant no p.(F261Y) 2019 31451650
1558 OMIA:001252-9135 common canary Feather colour, recessive white SCARB1 splicing Naturally occurring variant no NW_022042652.1 g.27474120A>C Variant in located in the splice-donor site immediately downstream of exon 4 and results in transcript isoforms. Genomic coordinates as listed by Bovo et al., 2023, PMID:37194440. 2017 28465440
1427 OMIA:002531-74940 Chinook salmon XY female sdY missense Naturally occurring variant yes p.(I183N) 2022 35100376
651 OMIA:000162-10036 golden hamster Cardiomyopathy, dilated SGCD deletion, gross (>20) Naturally occurring variant yes genomic deletion was found to be located at 6.1 kb 5' upstream of the second exon of δ-SG gene, and its 5' upstream region of more than 27.4 kb, including the authentic first exon of δ-SG gene, was deleted 1997 9391120
652 OMIA:002211-10036 golden hamster Cardiomyopathy, hypertrophic SGCD deletion, gross (>20) Naturally occurring variant yes a large deletion in the delta-SG gene 1997 9097966
1298 OMIA:002416-8932 rock pigeon Pearl-eye SLC2A11B tr nonsense (stop-gain) Naturally occurring variant no AKCR02000030.1 g.1895934G>A p.(W49X) Andrade et al. (2021): "This mutation creates a premature STOP codon in exon 3 of the likely canonical SLC2A11B transcript." 2021 33621224
746 OMIA:001821-8090 Japanese medaka Coat colour, albinism, oculocutaneous type IV slc45a2 complex rearrangement Naturally occurring variant yes an inversion of 167 bp, an insertion of 48 bp, and a deletion of 172 bp 2008 18245373
386 OMIA:000370-93934 Japanese quail Feather colour, albinism, sex-linked, imperfect SLC45A2 splicing Naturally occurring variant yes a splice-site mutation in the SLC45A2 gene: "a G → T transversion at the splice acceptor site just preceding exon 4" 2007 17151254
1643 OMIA:000370-9228 Rose-ringed parakeet Feather colour, yellow or white SLC45A2 missense Naturally occurring variant yes c.1195G>A p.(G399R) 2023 37943814
1641 OMIA:000370-232655 Alexandrine parakeet Feather colour, yellow SLC45A2 missense Naturally occurring variant no c.1195G>A p.(G399R) 2023 37943814
1644 OMIA:000370-9228 Rose-ringed parakeet Feather colour, yellow or white SLC45A2 missense Naturally occurring variant no c.1400G>T p.(G467V) 2023 37943814
1642 OMIA:000370-9228 Rose-ringed parakeet Feather colour, yellow SLC45A2 missense Naturally occurring variant no c.158C>T p.(P53L) 2023 37943814
259 OMIA:000370-93934 Japanese quail Feather colour, cinnamon SLC45A2 missense Naturally occurring variant no c.287C>A p.(A72D) 2007 17151254
1530 OMIA:002628-215402 northern snakehead Skin colour, yellow SLC45A2 YM nonsense (stop-gain) Naturally occurring variant no 19 c.383G>A p.(W128*) 2023 36789536
1640 OMIA:000370-232655 Alexandrine parakeet Feather colour, yellow SLC45A2 missense Naturally occurring variant no c.539T>C p.(L180P) 2023 37943814
1639 OMIA:000370-232645 Plum-headed parakeet Feather colour, yellow SLC45A2 nonsense (stop-gain) Naturally occurring variant no c.73G>T p.(R25*) 2023 37943814
254 OMIA:000213-74535 Bengal tiger Coat colour, white SLC45A2 missense Naturally occurring variant no C>T p.(A477V) 2013 23707431
861 OMIA:001821-9593 western gorilla Coat colour, albinism, oculocutaneous type IV SLC45A2 missense Naturally occurring variant yes gorGor3.1 17 g.59753498G>C c.1552G>C p.(G518R) 2013 23721540 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
1537 OMIA:002651-499056 Asian vine snakes Skin colour, yellow SMARCE1 missense Naturally occurring variant no 4 g.43233281C>T c.58C>T p.(P20S) 2023 36895044
1065 OMIA:002190-8932 rock pigeon Recessive red SOX10 e^1 deletion, gross (>20) Naturally occurring variant no Domyan et al. (2014) reported a 7.5kb deletion that spans "a conserved enhancer element that drives Sox10 expression in melanocytes" 2014 24508169
1066 OMIA:002190-8932 rock pigeon Recessive red SOX10 e^2 deletion, gross (>20) Naturally occurring variant no Domyan et al. (2014) reported a 2.5kb deletion that spans "a conserved enhancer element that drives Sox10 expression in melanocytes" 2014 24508169
1438 OMIA:002537-9541 crab-eating macaque Encephalopathy, STXBP1-related STXBP1 missense Base-editing yes Macaca_fascicularis5.0 15 g.101106196C>T c.875G>A p.(R292H) XM_005582167.2; XP_005582224.1 2022 35283272
670 OMIA:001617-9694 tiger Sweet taste, lack TAS1R2 deletion, gross (>20) Naturally occurring variant yes "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" 2005 16103917
668 OMIA:001617-32536 cheetah Sweet taste, lack TAS1R2 deletion, gross (>20) Naturally occurring variant yes "a 247-base pair microdeletion in exon 3 and stop codons in exons 4 and 6" 2005 16103917
1122 OMIA:002213-9447 Ring-tailed lemur Bitter taste TAS2R16 missense Naturally occurring variant no p.(S282L) 2019 31161904
1620 OMIA:000240-8839 Mallard Crest cushion TAS2R40 regulatory Naturally occurring variant unknown 1 published as variant in the 5′UTR of TAS2R40 (123272114_c. G78A) 2023 37652165
1277 OMIA:001972-9793 ass (donkey) Non-dun TBX3 deletion, small (<=20) Naturally occurring variant no 8 g.42742557delT "This 1 bp deletion (chr8:g.42742556 CT>C−) is located ~18.6 kb downstream of the transcription start site of the TBX3 gene." (Wang et al., 2020) 2020 33293529
1619 OMIA:002761-51751 ball python Skin colour, piebald TFEC nonsense (stop-gain) Naturally occurring variant unknown c.493C>T p.(R165*) Coordinates based on a Python bivittatus assembly 2023 36702128
397 OMIA:000162-9103 turkey Cardiomyopathy, dilated TNNT2 splicing Naturally occurring variant yes delGGGCTCCTC 2002 11886865
1538 OMIA:001472-9541 crab-eating macaque Neuronal ceroid lipofuscinosis, 2 TPP1 deletion, small (<=20) Naturally occurring variant yes c.42delC p.(L15Sfs*33) 2023 36918063
723 OMIA:000202-8090 Japanese medaka Skin colour, albinism tyr i1 insertion, gross (>20) Naturally occurring variant yes a 1.9 kb fragment, corresponding to a novel transposable element (Tol1), has been inserted in exon 1 of the gene for tyrosinase 1995 8552044
1554 OMIA:000202-8090 Japanese medaka Skin colour, albino (quasi-albino) tyr i4 insertion, gross (>20) Naturally occurring variant yes a 4.7-kb insertion in exon 5 (Tol2-tyr) 1996 8779712
1555 OMIA:000202-8090 Japanese medaka Skin colour, albino (weak) tyr i(b) insertion, gross (>20) Naturally occurring variant yes a 4.7-kb insertion in the 5' untranslated region (Tol2) 2004 15016305
666 OMIA:000202-9669 domestic ferret Coat colour, albinism TYR deletion, gross (>20) Naturally occurring variant yes "deletion of exon 4" 2007 17655555
1027 OMIA:000202-9773 humpback whale Migaloo, the white whale TYR deletion, small (<=20) Naturally occurring variant yes "(264 del C) at codon 88" 2012 22140253
1304 OMIA:000202-476259 Japanese raccoon dog Albinism TYR complex rearrangement Naturally occurring variant yes Mae et al. (2020): "the third exon was removed due to a deletion ... :two separate regions of 3.8 kb and 7.3 kb had been removed, but a segment of 0.3 kb between these two regions was retained, though was present in the reverse orientation." 2020 32783776
1162 OMIA:000202-9557 hamadryas baboon Siamese coat colour pattern TYR missense Naturally occurring variant no p.(A365T) ENSPANT00000015629.2:c.1093G>A; A0A096MRE4:p.(Ala365Thr) [Koga et al., 2020] 2020 32053406
1599 OMIA:000202-9544 Rhesus monkey Coat colour, golden TYR missense Naturally occurring variant no 14 p.(H256Q) 2023 37522525
813 OMIA:000202-8410 Japanese wrinkled frog Albinism TYR missense Naturally occurring variant yes c.1127G>A p.(G376D) 2018 28674275
814 OMIA:000202-8409 dark-spotted frog Albinism TYR insertion, small (<=20) Naturally occurring variant yes c.1244_1245insT 2018 28674275
332 OMIA:000202-452646 American mink Albinism TYR nonsense (stop-gain) Naturally occurring variant yes c.138T>A p.(C46*) 2008 18822100
329 OMIA:000202-89462 water buffalo Albinism TYR nonsense (stop-gain) Naturally occurring variant yes c.1431G>A p.(W477*) 2012 22817390
812 OMIA:000202-1772025 Rice frog Albinism TYR missense Naturally occurring variant yes c.169G>A p.(G57R) 2018 28674275
260 OMIA:000202-452646 American mink Himalayan TYR missense Naturally occurring variant no c.1835C>G p.(H420Q) 2009 19308642
1011 OMIA:000202-9689 lion White lion TYR missense Naturally occurring variant no c.260G>A p.(R87Q) 2013 24045858
1600 OMIA:000202-9544 Rhesus monkey Coat colour, oculocutaneous albinism TYR nonsense (stop-gain) Naturally occurring variant yes 14 c.552C>A p.(S184*) 2000 10751629
151 OMIA:000202-9793 ass (donkey) Coat colour, albinism TYR missense Naturally occurring variant yes c.604C>G p.(H202D) 2016 26763160
355 OMIA:000202-9515 Tufted capuchin Coat colour, albinism TYR nonsense (stop-gain) Naturally occurring variant yes c.64C>T p.(R22*) 2017 28476152
816 OMIA:000202-8409 dark-spotted frog Albinism TYR deletion, small (<=20) Naturally occurring variant yes c.682_684del p.(L228del) 2018 28674275
1004 OMIA:000202-10141 domestic guinea pig Coat colour, albinism Tyr missense Naturally occurring variant no c.710A>G p.(D237G) PRJEB26285 2018 29947431
815 OMIA:000202-8409 dark-spotted frog Albinism TYR insertion, small (<=20) Naturally occurring variant yes c.768_769insT 2018 28674275
1303 OMIA:000202-31143 Japanese ratsnake Coat colour, oculocutaneous albinism TYR albino - pet trade nonsense (stop-gain) Naturally occurring variant yes c.895C>T p.(R299X) 2018 30158334
1601 OMIA:000202-9544 Rhesus monkey Coat colour, oculocutaneous albinism TYR missense Naturally occurring variant yes 14 c.934C>A p.(L312I) 2020 32259106
1594 OMIA:000202-9901 American bison Oculocutaneous albinism type I (OCA1), TYR-related TYR missense Naturally occurring variant unknown 29 g.7995584C>T c.1114C>T p.(G372R) 2023 37481261
1159 OMIA:000202-9860 red deer White TYR missense Naturally occurring variant no CerEla 1.0 2 c.871G>A p.(G291R) 2020 32041521
1118 OMIA:000202-9627 red fox Albinism TYR insertion, small (<=20) Naturally occurring variant yes VulVul2.2 NW_020356544.1 g.7130732dup c.365dup p.(N122Kfs4*) XM_026015193.1; XP_025870978.1; published as c.365dupA 2019 31246286
1255 OMIA:001249-452646 American mink American Palomino coat colour TYRP1 b^p insertion, gross (>20) Naturally occurring variant no "a large insertion of approximately eight kb. The insertion most likely disrupts different elements necessary for the splicing of intron 2 of the TYRP1 gene" (Cicera et al., 2016) 2016 26886941
1598 OMIA:001249-9544 Rhesus monkey Coat colour, golden TYRP1 missense Naturally occurring variant no 15 p.(L415P) 2023 37522525
1597 OMIA:001249-9544 Rhesus monkey Coat colour, golden TYRP1 missense Naturally occurring variant no 15 p.(N343G) 2023 37522525
753 OMIA:002061-345164 Saker falcon Feather colour, light brown TYRP1 complex rearrangement Naturally occurring variant no c.79C>T and c.79_80insT in exon 1, resulting in "a frameshift change and a premature stop codon at position 81 of the deduced protein sequence, which in the wild-type form contains 536 amino acids. 2017 27611661
258 OMIA:001322-93934 Japanese quail Feather colour, roux TYRP1 missense Naturally occurring variant no c.845T>C p.(F282S) 2007 18028514
1518 OMIA:001249-9643 American black bear Cinnamon coat colour TYRP1 missense Naturally occurring variant no HiC_scaffold_24 g.6724152G>A p.(R153C) 2023 36528024
Overall Statistics
Total number of variants 210
Variants with genomic location 33 (15.7% )
Variants in a variant database, i.e. with rs ID 1 (0.5%)
Variant Type Count Percent
complex rearrangement 5 2.4%
deletion, gross (>20) 16 7.6%
deletion, small (<=20) 31 14.8%
delins, gross (>20) 1 0.5%
delins, small (<=20) 1 0.5%
duplication 3 1.4%
haplotype 7 3.3%
insertion, gross (>20) 8 3.8%
insertion, small (<=20) 7 3.3%
inversion 1 0.5%
missense 87 41.4%
nonsense (stop-gain) 24 11.4%
regulatory 2 1.0%
repeat variation 1 0.5%
splicing 14 6.7%
start-lost 1 0.5%
synonymous 1 0.5%
Year First Reported Count Percent
1990 1 0.5%
1991 0 0.0%
1992 1 0.5%
1993 1 0.5%
1994 0 0.0%
1995 1 0.5%
1996 1 0.5%
1997 5 2.4%
1998 5 2.4%
1999 2 1.0%
2000 2 1.0%
2001 3 1.4%
2002 6 2.9%
2003 1 0.5%
2004 2 1.0%
2005 3 1.4%
2006 2 1.0%
2007 6 2.9%
2008 5 2.4%
2009 9 4.3%
2010 3 1.4%
2011 1 0.5%
2012 6 2.9%
2013 8 3.8%
2014 9 4.3%
2015 11 5.2%
2016 5 2.4%
2017 12 5.7%
2018 22 10.5%
2019 10 4.8%
2020 16 7.6%
2021 8 3.8%
2022 7 3.3%
2023 35 16.7%
2024 1 0.5%