{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7452358", "communityStandardTitle": [ "NM_001252024.2(TRPM1):c.1966C>T (p.Arg656Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=643010[alleleid]", "alleleId": 643010, "preferredName": "NM_001252024.2(TRPM1):c.1966C>T (p.Arg656Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/645561", "RCV": [ "RCV000799664", "RCV003133622" ], "variationId": 645561 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-31334275-G-A", "id": "15-31334275-G-A", "variant": "15:31334275 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.31334275G>A?assembly=hg19", "id": "chr15:g.31334275G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.31042072G>A?assembly=hg38", "id": "chr15:g.31042072G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/763546583", "rs": 763546583 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-31334275-G-A?dataset=gnomad_r2_1", "id": "15-31334275-G-A", "variant": "15:31334275 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-31042072-G-A?dataset=gnomad_r4", "id": "15-31042072-G-A", "variant": "15:31042072 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 31042072, "referenceAllele": "G", "start": 31042071 } ], "hgvs": [ "NC_000015.10:g.31042072G>A", "CM000677.2:g.31042072G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 31334275, "referenceAllele": "G", "start": 31334274 } ], "hgvs": [ "NC_000015.9:g.31334275G>A", "CM000677.1:g.31334275G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 29121567, "referenceAllele": "G", "start": 29121566 } ], "hgvs": [ "NC_000015.8:g.29121567G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 64650, "referenceAllele": "C", "start": 64649 } ], "hgvs": [ "NG_016453.1:g.64650C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003196" }, { "coordinates": [ { "allele": "T", "end": 124202, "referenceAllele": "C", "start": 124201 } ], "hgvs": [ "NG_016453.2:g.124202C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "C", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000711434.1:c.1900C>T" ], "proteinEffect": { "hgvs": "ENSP00000518752.1:p.Arg634Ter", "hgvsWellDefined": "ENSP00000518752.1:p.Arg634_Cys1609delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspArgLysSerArgIleHisIleTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914798" }, { "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "C", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000397795.7:c.1900C>T" ], "proteinEffect": { "hgvs": "ENSP00000380897.2:p.Arg634Ter", "hgvsWellDefined": "ENSP00000380897.2:p.Arg634_Cys1603delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904628" }, { "coordinates": [ { "allele": "T", "end": 2218, "referenceAllele": "C", "start": 2217 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558445.6:c.2017C>T" ], "proteinEffect": { "hgvs": "ENSP00000452946.2:p.Arg673Ter", "hgvsWellDefined": "ENSP00000452946.2:p.Arg673_Cys1642delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905899" }, { "coordinates": [ { "allele": "T", "end": 544, "endIntronDirection": "-", "endIntronOffset": 13595, "referenceAllele": "C", "start": 544, "startIntronDirection": "-", "startIntronOffset": 13596 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000559177.6:c.545-13596C>T" ], "proteinEffect": { "hgvs": "ENSP00000453477.2:n.545-13596C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS905904" }, { "coordinates": [ { "allele": "T", "end": 2118, "referenceAllele": "C", "start": 2117 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000256552.11:c.1966C>T" ], "proteinEffect": { "hgvs": "ENSP00000256552.7:p.Arg656Ter", "hgvsWellDefined": "ENSP00000256552.7:p.Arg656_Cys1625delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741786", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256552.11:c.1966C>T" }, "RefSeq": { "hgvs": "NM_001252024.2:c.1966C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256552.7:p.Arg656Ter" }, "RefSeq": { "hgvs": "NP_001238953.1:p.Arg656Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000256552.10:c.1966C>T" ], "proteinEffect": { "hgvs": "ENSP00000256552.6:p.Arg656Ter", "hgvsWellDefined": "ENSP00000256552.6:p.Arg656_Cys1625delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250190" }, { "coordinates": [ { "allele": "T", "end": 2014, "referenceAllele": "C", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000397795.6:c.1900C>T" ], "proteinEffect": { "hgvs": "ENSP00000380897.2:p.Arg634Ter", "hgvsWellDefined": "ENSP00000380897.2:p.Arg634_Cys1603delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277983" }, { "coordinates": [ { "allele": "T", "end": 2331, "referenceAllele": "C", "start": 2330 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000542188.5:c.2017C>T" ], "proteinEffect": { "hgvs": "ENSP00000437849.1:p.Arg673Ter", "hgvsWellDefined": "ENSP00000437849.1:p.Arg673_Cys1642delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363321" }, { "coordinates": [ { "allele": "T", "end": 2012, "referenceAllele": "C", "start": 2011 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558445.5:c.1900C>T" ], "proteinEffect": { "hgvs": "ENSP00000452946.1:p.Arg634Ter", "hgvsWellDefined": "ENSP00000452946.1:p.Arg634_Gln1390del" }, "referenceSequence": "http://reg.genome.network/refseq/RS373798" }, { "coordinates": [ { "allele": "T", "end": 1669, "referenceAllele": "C", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558768.5:c.1669C>T" ], "proteinEffect": { "hgvs": "ENSP00000453119.2:p.Arg557Ter", "hgvsWellDefined": "ENSP00000453119.2:p.Arg557_Cys1526delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374053" }, { "coordinates": [ { "allele": "T", "end": 539, "endIntronDirection": "-", "endIntronOffset": 13595, "referenceAllele": "C", "start": 539, "startIntronDirection": "-", "startIntronOffset": 13596 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000559177.5:c.428-13596C>T" ], "proteinEffect": { "hgvs": "ENSP00000453477.1:n.428-13596C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS374378" }, { "coordinates": [ { "allele": "T", "end": 1717, "referenceAllele": "C", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000560801.5:c.1717C>T" ], "proteinEffect": { "hgvs": "ENSP00000453644.2:n.1717C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS375624" }, { "@id": "http://reg.genome.network/allele/PA916008300", "coordinates": [ { "allele": "T", "end": 2331, "referenceAllele": "C", "start": 2330 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252020.1:c.2017C>T" ], "proteinEffect": { "hgvs": "NP_001238949.1:p.Arg673Ter", "hgvsWellDefined": "NP_001238949.1:p.Arg673_Cys1642delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018833" }, { "@id": "http://reg.genome.network/allele/PA2826346683", "coordinates": [ { "allele": "T", "end": 2119, "referenceAllele": "C", "start": 2118 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252024.1:c.1966C>T" ], "proteinEffect": { "hgvs": "NP_001238953.1:p.Arg656Ter", "hgvsWellDefined": "NP_001238953.1:p.Arg656_Cys1625delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018836" }, { "@id": "http://reg.genome.network/allele/PA2829354564", "coordinates": [ { "allele": "T", "end": 2033, "referenceAllele": "C", "start": 2032 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_002420.5:c.1900C>T" ], "proteinEffect": { "hgvs": "NP_002411.3:p.Arg634Ter", "hgvsWellDefined": "NP_002411.3:p.Arg634_Cys1603delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027725" }, { "@id": "http://reg.genome.network/allele/PA2826346683", "coordinates": [ { "allele": "T", "end": 2118, "referenceAllele": "C", "start": 2117 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252024.2:c.1966C>T" ], "proteinEffect": { "hgvs": "NP_001238953.1:p.Arg656Ter", "hgvsWellDefined": "NP_001238953.1:p.Arg656_Cys1625delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680376", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256552.11:c.1966C>T" }, "RefSeq": { "hgvs": "NM_001252024.2:c.1966C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256552.7:p.Arg656Ter" }, "RefSeq": { "hgvs": "NP_001238953.1:p.Arg656Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829354564", "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "C", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_002420.6:c.1900C>T" ], "proteinEffect": { "hgvs": "NP_002411.3:p.Arg634Ter", "hgvsWellDefined": "NP_002411.3:p.Arg634_Cys1603delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695542" }, { "@id": "http://reg.genome.network/allele/PA916008300", "coordinates": [ { "allele": "T", "end": 2218, "referenceAllele": "C", "start": 2217 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252020.2:c.2017C>T" ], "proteinEffect": { "hgvs": "NP_001238949.1:p.Arg673Ter", "hgvsWellDefined": "NP_001238949.1:p.Arg673_Cys1642delinsGlyGluGluSerMetAlaLysAlaLeuValAlaCysLysLeuTyrLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714610" } ], "type": "nucleotide" }