{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA391511395", "communityStandardTitle": [ "NM_001252024.2(TRPM1):c.2013C>G (p.Tyr671Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.31334228G>C?assembly=hg19", "id": "chr15:g.31334228G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.31042025G>C?assembly=hg38", "id": "chr15:g.31042025G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1195734631", "rs": 1195734631 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-31334228-G-C?dataset=gnomad_r2_1", "id": "15-31334228-G-C", "variant": "15:31334228 G / C" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 31042025, "referenceAllele": "G", "start": 31042024 } ], "hgvs": [ "NC_000015.10:g.31042025G>C", "CM000677.2:g.31042025G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 31334228, "referenceAllele": "G", "start": 31334227 } ], "hgvs": [ "NC_000015.9:g.31334228G>C", "CM000677.1:g.31334228G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 29121520, "referenceAllele": "G", "start": 29121519 } ], "hgvs": [ "NC_000015.8:g.29121520G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "G", "end": 64697, "referenceAllele": "C", "start": 64696 } ], "hgvs": [ "NG_016453.1:g.64697C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS003196" }, { "coordinates": [ { "allele": "G", "end": 124249, "referenceAllele": "C", "start": 124248 } ], "hgvs": [ "NG_016453.2:g.124249C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS616230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2079, "referenceAllele": "C", "start": 2078 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000711434.1:c.1947C>G" ], "proteinEffect": { "hgvs": "ENSP00000518752.1:p.Tyr649Ter", "hgvsWellDefined": "ENSP00000518752.1:p.Tyr649_Cys1609delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspArgLysSerArgIleHisIleTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914798" }, { "coordinates": [ { "allele": "G", "end": 2079, "referenceAllele": "C", "start": 2078 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000397795.7:c.1947C>G" ], "proteinEffect": { "hgvs": "ENSP00000380897.2:p.Tyr649Ter", "hgvsWellDefined": "ENSP00000380897.2:p.Tyr649_Cys1603delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904628" }, { "coordinates": [ { "allele": "G", "end": 2265, "referenceAllele": "C", "start": 2264 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558445.6:c.2064C>G" ], "proteinEffect": { "hgvs": "ENSP00000452946.2:p.Tyr688Ter", "hgvsWellDefined": "ENSP00000452946.2:p.Tyr688_Cys1642delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905899" }, { "coordinates": [ { "allele": "G", "end": 544, "endIntronDirection": "-", "endIntronOffset": 13548, "referenceAllele": "C", "start": 544, "startIntronDirection": "-", "startIntronOffset": 13549 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000559177.6:c.545-13549C>G" ], "proteinEffect": { "hgvs": "ENSP00000453477.2:n.545-13549C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS905904" }, { "coordinates": [ { "allele": "G", "end": 2165, "referenceAllele": "C", "start": 2164 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000256552.11:c.2013C>G" ], "proteinEffect": { "hgvs": "ENSP00000256552.7:p.Tyr671Ter", "hgvsWellDefined": "ENSP00000256552.7:p.Tyr671_Cys1625delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741786", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256552.11:c.2013C>G" }, "RefSeq": { "hgvs": "NM_001252024.2:c.2013C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256552.7:p.Tyr671Ter" }, "RefSeq": { "hgvs": "NP_001238953.1:p.Tyr671Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 2161, "referenceAllele": "C", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000256552.10:c.2013C>G" ], "proteinEffect": { "hgvs": "ENSP00000256552.6:p.Tyr671Ter", "hgvsWellDefined": "ENSP00000256552.6:p.Tyr671_Cys1625delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250190" }, { "coordinates": [ { "allele": "G", "end": 2061, "referenceAllele": "C", "start": 2060 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000397795.6:c.1947C>G" ], "proteinEffect": { "hgvs": "ENSP00000380897.2:p.Tyr649Ter", "hgvsWellDefined": "ENSP00000380897.2:p.Tyr649_Cys1603delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277983" }, { "coordinates": [ { "allele": "G", "end": 2378, "referenceAllele": "C", "start": 2377 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000542188.5:c.2064C>G" ], "proteinEffect": { "hgvs": "ENSP00000437849.1:p.Tyr688Ter", "hgvsWellDefined": "ENSP00000437849.1:p.Tyr688_Cys1642delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363321" }, { "coordinates": [ { "allele": "G", "end": 2059, "referenceAllele": "C", "start": 2058 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558445.5:c.1947C>G" ], "proteinEffect": { "hgvs": "ENSP00000452946.1:p.Tyr649Ter", "hgvsWellDefined": "ENSP00000452946.1:p.Tyr649_Gln1390del" }, "referenceSequence": "http://reg.genome.network/refseq/RS373798" }, { "coordinates": [ { "allele": "G", "end": 1716, "referenceAllele": "C", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558768.5:c.1716C>G" ], "proteinEffect": { "hgvs": "ENSP00000453119.2:p.Tyr572Ter", "hgvsWellDefined": "ENSP00000453119.2:p.Tyr572_Cys1526delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374053" }, { "coordinates": [ { "allele": "G", "end": 539, "endIntronDirection": "-", "endIntronOffset": 13548, "referenceAllele": "C", "start": 539, "startIntronDirection": "-", "startIntronOffset": 13549 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000559177.5:c.428-13549C>G" ], "proteinEffect": { "hgvs": "ENSP00000453477.1:n.428-13549C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS374378" }, { "coordinates": [ { "allele": "G", "end": 1764, "referenceAllele": "C", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000560801.5:c.1764C>G" ], "proteinEffect": { "hgvs": "ENSP00000453644.2:n.1764C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS375624" }, { "@id": "http://reg.genome.network/allele/PA2573067866", "coordinates": [ { "allele": "G", "end": 2378, "referenceAllele": "C", "start": 2377 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252020.1:c.2064C>G" ], "proteinEffect": { "hgvs": "NP_001238949.1:p.Tyr688Ter", "hgvsWellDefined": "NP_001238949.1:p.Tyr688_Cys1642delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018833" }, { "@id": "http://reg.genome.network/allele/PA2826346691", "coordinates": [ { "allele": "G", "end": 2166, "referenceAllele": "C", "start": 2165 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252024.1:c.2013C>G" ], "proteinEffect": { "hgvs": "NP_001238953.1:p.Tyr671Ter", "hgvsWellDefined": "NP_001238953.1:p.Tyr671_Cys1625delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018836" }, { "@id": "http://reg.genome.network/allele/PA2829354577", "coordinates": [ { "allele": "G", "end": 2080, "referenceAllele": "C", "start": 2079 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_002420.5:c.1947C>G" ], "proteinEffect": { "hgvs": "NP_002411.3:p.Tyr649Ter", "hgvsWellDefined": "NP_002411.3:p.Tyr649_Cys1603delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027725" }, { "@id": "http://reg.genome.network/allele/PA2826346691", "coordinates": [ { "allele": "G", "end": 2165, "referenceAllele": "C", "start": 2164 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252024.2:c.2013C>G" ], "proteinEffect": { "hgvs": "NP_001238953.1:p.Tyr671Ter", "hgvsWellDefined": "NP_001238953.1:p.Tyr671_Cys1625delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680376", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256552.11:c.2013C>G" }, "RefSeq": { "hgvs": "NM_001252024.2:c.2013C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256552.7:p.Tyr671Ter" }, "RefSeq": { "hgvs": "NP_001238953.1:p.Tyr671Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829354577", "coordinates": [ { "allele": "G", "end": 2079, "referenceAllele": "C", "start": 2078 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_002420.6:c.1947C>G" ], "proteinEffect": { "hgvs": "NP_002411.3:p.Tyr649Ter", "hgvsWellDefined": "NP_002411.3:p.Tyr649_Cys1603delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695542" }, { "@id": "http://reg.genome.network/allele/PA2573067866", "coordinates": [ { "allele": "G", "end": 2265, "referenceAllele": "C", "start": 2264 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252020.2:c.2064C>G" ], "proteinEffect": { "hgvs": "NP_001238949.1:p.Tyr688Ter", "hgvsWellDefined": "NP_001238949.1:p.Tyr688_Cys1642delinsLysAlaMetAlaHisGluSerSerGluSerAspLeuValAspAspIleSerGlnAspLeuAspAsnAsnSerLysAspPheGlyGlnLeuAlaLeuGluLeuLeuAspGlnSerTyrLysHisAspGluGlnIleAlaMetLysLeuLeuThrTyrGluLeuLysAsnTrpSerAsnSerThrCysLeuLysLeuAlaValAlaAlaLysHisArgAspPheIleAlaHisThrCysSerGlnMetLeuLeuThrAspMetTrpMetGlyArgLeuArgMetArgLysAsnProGlyLeuLysValIleMetGlyIleLeuLeuProProThrIleLeuPheLeuGluPheArgThrTyrAspAspPheSerTyrGlnThrSerLysGluAsnGluAspGlyLysGluLysGluGluGluAsnThrAspAlaAsnAlaAspAlaGlySerArgLysGlyAspGluGluAsnGluHisLysLysGlnArgSerIleProIleGlyThrLysIleCysGluPheTyrAsnAlaProIleValLysPheTrpPheTyrThrIleSerTyrLeuGlyTyrLeuLeuLeuPheAsnTyrValIleLeuValArgMetAspGlyTrpProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714610" } ], "type": "nucleotide" }