{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA391546777", "communityStandardTitle": [ "NM_001252024.2(TRPM1):c.2634G>A (p.Trp878Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.31327815C>T?assembly=hg19", "id": "chr15:g.31327815C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.31035612C>T?assembly=hg38", "id": "chr15:g.31035612C>T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 31035612, "referenceAllele": "C", "start": 31035611 } ], "hgvs": [ "NC_000015.10:g.31035612C>T", "CM000677.2:g.31035612C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 31327815, "referenceAllele": "C", "start": 31327814 } ], "hgvs": [ "NC_000015.9:g.31327815C>T", "CM000677.1:g.31327815C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 29115107, "referenceAllele": "C", "start": 29115106 } ], "hgvs": [ "NC_000015.8:g.29115107C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 71110, "referenceAllele": "G", "start": 71109 } ], "hgvs": [ "NG_016453.1:g.71110G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003196" }, { "coordinates": [ { "allele": "A", "end": 130662, "referenceAllele": "G", "start": 130661 } ], "hgvs": [ "NG_016453.2:g.130662G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2700, "referenceAllele": "G", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000711434.1:c.2568G>A" ], "proteinEffect": { "hgvs": "ENSP00000518752.1:p.Trp856Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914798" }, { "coordinates": [ { "allele": "A", "end": 2700, "referenceAllele": "G", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000397795.7:c.2568G>A" ], "proteinEffect": { "hgvs": "ENSP00000380897.2:p.Trp856Ter", "hgvsWellDefined": "ENSP00000380897.2:p.Trp856_Cys1603delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904628" }, { "coordinates": [ { "allele": "A", "end": 2886, "referenceAllele": "G", "start": 2885 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558445.6:c.2685G>A" ], "proteinEffect": { "hgvs": "ENSP00000452946.2:p.Trp895Ter", "hgvsWellDefined": "ENSP00000452946.2:p.Trp895_Cys1642delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905899" }, { "coordinates": [ { "allele": "A", "end": 544, "endIntronDirection": "-", "endIntronOffset": 7135, "referenceAllele": "G", "start": 544, "startIntronDirection": "-", "startIntronOffset": 7136 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000559177.6:c.545-7136G>A" ], "proteinEffect": { "hgvs": "ENSP00000453477.2:n.545-7136G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905904" }, { "coordinates": [ { "allele": "A", "end": 2786, "referenceAllele": "G", "start": 2785 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000256552.11:c.2634G>A" ], "proteinEffect": { "hgvs": "ENSP00000256552.7:p.Trp878Ter", "hgvsWellDefined": "ENSP00000256552.7:p.Trp878_Cys1625delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741786", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256552.11:c.2634G>A" }, "RefSeq": { "hgvs": "NM_001252024.2:c.2634G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256552.7:p.Trp878Ter" }, "RefSeq": { "hgvs": "NP_001238953.1:p.Trp878Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2782, "referenceAllele": "G", "start": 2781 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000256552.10:c.2634G>A" ], "proteinEffect": { "hgvs": "ENSP00000256552.6:p.Trp878Ter", "hgvsWellDefined": "ENSP00000256552.6:p.Trp878_Cys1625delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250190" }, { "coordinates": [ { "allele": "A", "end": 2682, "referenceAllele": "G", "start": 2681 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000397795.6:c.2568G>A" ], "proteinEffect": { "hgvs": "ENSP00000380897.2:p.Trp856Ter", "hgvsWellDefined": "ENSP00000380897.2:p.Trp856_Cys1603delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277983" }, { "coordinates": [ { "allele": "A", "end": 2999, "referenceAllele": "G", "start": 2998 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000542188.5:c.2685G>A" ], "proteinEffect": { "hgvs": "ENSP00000437849.1:p.Trp895Ter", "hgvsWellDefined": "ENSP00000437849.1:p.Trp895_Cys1642delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363321" }, { "coordinates": [ { "allele": "A", "end": 2680, "referenceAllele": "G", "start": 2679 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558445.5:c.2568G>A" ], "proteinEffect": { "hgvs": "ENSP00000452946.1:p.Trp856Ter", "hgvsWellDefined": "ENSP00000452946.1:p.Trp856_Gln1390del" }, "referenceSequence": "http://reg.genome.network/refseq/RS373798" }, { "coordinates": [ { "allele": "A", "end": 2337, "referenceAllele": "G", "start": 2336 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558768.5:c.2337G>A" ], "proteinEffect": { "hgvs": "ENSP00000453119.2:p.Trp779Ter", "hgvsWellDefined": "ENSP00000453119.2:p.Trp779_Cys1526delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374053" }, { "coordinates": [ { "allele": "A", "end": 539, "endIntronDirection": "-", "endIntronOffset": 7135, "referenceAllele": "G", "start": 539, "startIntronDirection": "-", "startIntronOffset": 7136 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000559177.5:c.428-7136G>A" ], "proteinEffect": { "hgvs": "ENSP00000453477.1:n.428-7136G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS374378" }, { "coordinates": [ { "allele": "A", "end": 2385, "referenceAllele": "G", "start": 2384 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000560801.5:c.2385G>A" ], "proteinEffect": { "hgvs": "ENSP00000453644.2:n.2385G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS375624" }, { "@id": "http://reg.genome.network/allele/PA916008308", "coordinates": [ { "allele": "A", "end": 2999, "referenceAllele": "G", "start": 2998 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252020.1:c.2685G>A" ], "proteinEffect": { "hgvs": "NP_001238949.1:p.Trp895Ter", "hgvsWellDefined": "NP_001238949.1:p.Trp895_Cys1642delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018833" }, { "@id": "http://reg.genome.network/allele/PA2826346837", "coordinates": [ { "allele": "A", "end": 2787, "referenceAllele": "G", "start": 2786 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252024.1:c.2634G>A" ], "proteinEffect": { "hgvs": "NP_001238953.1:p.Trp878Ter", "hgvsWellDefined": "NP_001238953.1:p.Trp878_Cys1625delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018836" }, { "@id": "http://reg.genome.network/allele/PA2829354849", "coordinates": [ { "allele": "A", "end": 2701, "referenceAllele": "G", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_002420.5:c.2568G>A" ], "proteinEffect": { "hgvs": "NP_002411.3:p.Trp856Ter", "hgvsWellDefined": "NP_002411.3:p.Trp856_Cys1603delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027725" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "hgvs": [ "XR_932055.1:n.303C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128099" }, { "coordinates": [ { "allele": "T", "end": 132, "referenceAllele": "C", "start": 131 } ], "hgvs": [ "XR_932056.1:n.132C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128100" }, { "coordinates": [ { "allele": "T", "end": 303, "referenceAllele": "C", "start": 302 } ], "hgvs": [ "XR_932057.1:n.303C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128101" }, { "coordinates": [ { "allele": "T", "end": 88, "endIntronDirection": "-", "endIntronOffset": 140, "referenceAllele": "C", "start": 88, "startIntronDirection": "-", "startIntronOffset": 141 } ], "hgvs": [ "XR_932058.1:n.89-141C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128102" }, { "coordinates": [ { "allele": "T", "end": 278, "endIntronDirection": "-", "endIntronOffset": 140, "referenceAllele": "C", "start": 278, "startIntronDirection": "-", "startIntronOffset": 141 } ], "hgvs": [ "XR_001751769.1:n.279-141C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598589" }, { "@id": "http://reg.genome.network/allele/PA2826346837", "coordinates": [ { "allele": "A", "end": 2786, "referenceAllele": "G", "start": 2785 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252024.2:c.2634G>A" ], "proteinEffect": { "hgvs": "NP_001238953.1:p.Trp878Ter", "hgvsWellDefined": "NP_001238953.1:p.Trp878_Cys1625delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680376", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256552.11:c.2634G>A" }, "RefSeq": { "hgvs": "NM_001252024.2:c.2634G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256552.7:p.Trp878Ter" }, "RefSeq": { "hgvs": "NP_001238953.1:p.Trp878Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829354849", "coordinates": [ { "allele": "A", "end": 2700, "referenceAllele": "G", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_002420.6:c.2568G>A" ], "proteinEffect": { "hgvs": "NP_002411.3:p.Trp856Ter", "hgvsWellDefined": "NP_002411.3:p.Trp856_Cys1603delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695542" }, { "@id": "http://reg.genome.network/allele/PA916008308", "coordinates": [ { "allele": "A", "end": 2886, "referenceAllele": "G", "start": 2885 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252020.2:c.2685G>A" ], "proteinEffect": { "hgvs": "NP_001238949.1:p.Trp895Ter", "hgvsWellDefined": "NP_001238949.1:p.Trp895_Cys1642delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714610" } ], "type": "nucleotide" }