{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA391546598", "communityStandardTitle": [ "NM_001252024.2(TRPM1):c.2711C>G (p.Ser904Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.31325133G>C?assembly=hg19", "id": "chr15:g.31325133G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.31032930G>C?assembly=hg38", "id": "chr15:g.31032930G>C" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 31032930, "referenceAllele": "G", "start": 31032929 } ], "hgvs": [ "NC_000015.10:g.31032930G>C", "CM000677.2:g.31032930G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 31325133, "referenceAllele": "G", "start": 31325132 } ], "hgvs": [ "NC_000015.9:g.31325133G>C", "CM000677.1:g.31325133G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 29112425, "referenceAllele": "G", "start": 29112424 } ], "hgvs": [ "NC_000015.8:g.29112425G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "G", "end": 73792, "referenceAllele": "C", "start": 73791 } ], "hgvs": [ "NG_016453.1:g.73792C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS003196" }, { "coordinates": [ { "allele": "G", "end": 133344, "referenceAllele": "C", "start": 133343 } ], "hgvs": [ "NG_016453.2:g.133344C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS616230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2777, "referenceAllele": "C", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000711434.1:c.2645C>G" ], "proteinEffect": { "hgvs": "ENSP00000518752.1:p.Ser882Ter", "hgvsWellDefined": "ENSP00000518752.1:p.Ser882_Cys1609delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspArgLysSerArgIleHisIleTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914798" }, { "coordinates": [ { "allele": "G", "end": 2777, "referenceAllele": "C", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000397795.7:c.2645C>G" ], "proteinEffect": { "hgvs": "ENSP00000380897.2:p.Ser882Ter", "hgvsWellDefined": "ENSP00000380897.2:p.Ser882_Cys1603delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904628" }, { "coordinates": [ { "allele": "G", "end": 2963, "referenceAllele": "C", "start": 2962 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558445.6:c.2762C>G" ], "proteinEffect": { "hgvs": "ENSP00000452946.2:p.Ser921Ter", "hgvsWellDefined": "ENSP00000452946.2:p.Ser921_Cys1642delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905899" }, { "coordinates": [ { "allele": "G", "end": 544, "endIntronDirection": "-", "endIntronOffset": 4453, "referenceAllele": "C", "start": 544, "startIntronDirection": "-", "startIntronOffset": 4454 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000559177.6:c.545-4454C>G" ], "proteinEffect": { "hgvs": "ENSP00000453477.2:n.545-4454C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS905904" }, { "coordinates": [ { "allele": "G", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000256552.11:c.2711C>G" ], "proteinEffect": { "hgvs": "ENSP00000256552.7:p.Ser904Ter", "hgvsWellDefined": "ENSP00000256552.7:p.Ser904_Cys1625delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741786", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256552.11:c.2711C>G" }, "RefSeq": { "hgvs": "NM_001252024.2:c.2711C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256552.7:p.Ser904Ter" }, "RefSeq": { "hgvs": "NP_001238953.1:p.Ser904Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 2859, "referenceAllele": "C", "start": 2858 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000256552.10:c.2711C>G" ], "proteinEffect": { "hgvs": "ENSP00000256552.6:p.Ser904Ter", "hgvsWellDefined": "ENSP00000256552.6:p.Ser904_Cys1625delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250190" }, { "coordinates": [ { "allele": "G", "end": 2759, "referenceAllele": "C", "start": 2758 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000397795.6:c.2645C>G" ], "proteinEffect": { "hgvs": "ENSP00000380897.2:p.Ser882Ter", "hgvsWellDefined": "ENSP00000380897.2:p.Ser882_Cys1603delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277983" }, { "coordinates": [ { "allele": "G", "end": 3076, "referenceAllele": "C", "start": 3075 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000542188.5:c.2762C>G" ], "proteinEffect": { "hgvs": "ENSP00000437849.1:p.Ser921Ter", "hgvsWellDefined": "ENSP00000437849.1:p.Ser921_Cys1642delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363321" }, { "coordinates": [ { "allele": "G", "end": 86, "referenceAllele": "C", "start": 85 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000557948.1:n.86C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS373436" }, { "coordinates": [ { "allele": "G", "end": 2757, "referenceAllele": "C", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558445.5:c.2645C>G" ], "proteinEffect": { "hgvs": "ENSP00000452946.1:p.Ser882Ter", "hgvsWellDefined": "ENSP00000452946.1:p.Ser882_Gln1390del" }, "referenceSequence": "http://reg.genome.network/refseq/RS373798" }, { "coordinates": [ { "allele": "G", "end": 2414, "referenceAllele": "C", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558768.5:c.2414C>G" ], "proteinEffect": { "hgvs": "ENSP00000453119.2:p.Ser805Ter", "hgvsWellDefined": "ENSP00000453119.2:p.Ser805_Cys1526delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374053" }, { "coordinates": [ { "allele": "G", "end": 539, "endIntronDirection": "-", "endIntronOffset": 4453, "referenceAllele": "C", "start": 539, "startIntronDirection": "-", "startIntronOffset": 4454 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000559177.5:c.428-4454C>G" ], "proteinEffect": { "hgvs": "ENSP00000453477.1:n.428-4454C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS374378" }, { "coordinates": [ { "allele": "G", "end": 2462, "referenceAllele": "C", "start": 2461 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000560801.5:c.2462C>G" ], "proteinEffect": { "hgvs": "ENSP00000453644.2:n.2462C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS375624" }, { "@id": "http://reg.genome.network/allele/PA916008311", "coordinates": [ { "allele": "G", "end": 3076, "referenceAllele": "C", "start": 3075 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252020.1:c.2762C>G" ], "proteinEffect": { "hgvs": "NP_001238949.1:p.Ser921Ter", "hgvsWellDefined": "NP_001238949.1:p.Ser921_Cys1642delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018833" }, { "@id": "http://reg.genome.network/allele/PA2826346863", "coordinates": [ { "allele": "G", "end": 2864, "referenceAllele": "C", "start": 2863 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252024.1:c.2711C>G" ], "proteinEffect": { "hgvs": "NP_001238953.1:p.Ser904Ter", "hgvsWellDefined": "NP_001238953.1:p.Ser904_Cys1625delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018836" }, { "@id": "http://reg.genome.network/allele/PA213023", "coordinates": [ { "allele": "G", "end": 2778, "referenceAllele": "C", "start": 2777 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_002420.5:c.2645C>G" ], "proteinEffect": { "hgvs": "NP_002411.3:p.Ser882Ter", "hgvsWellDefined": "NP_002411.3:p.Ser882_Cys1603delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027725" }, { "coordinates": [ { "allele": "C", "end": 260, "endIntronDirection": "-", "endIntronOffset": 2639, "referenceAllele": "G", "start": 260, "startIntronDirection": "-", "startIntronOffset": 2640 } ], "hgvs": [ "XR_932055.1:n.261-2640G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS128099" }, { "coordinates": [ { "allele": "C", "end": 89, "endIntronDirection": "-", "endIntronOffset": 2639, "referenceAllele": "G", "start": 89, "startIntronDirection": "-", "startIntronOffset": 2640 } ], "hgvs": [ "XR_932056.1:n.90-2640G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS128100" }, { "coordinates": [ { "allele": "C", "end": 260, "endIntronDirection": "-", "endIntronOffset": 2639, "referenceAllele": "G", "start": 260, "startIntronDirection": "-", "startIntronOffset": 2640 } ], "hgvs": [ "XR_932057.1:n.261-2640G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS128101" }, { "coordinates": [ { "allele": "C", "end": 88, "endIntronDirection": "-", "endIntronOffset": 2822, "referenceAllele": "G", "start": 88, "startIntronDirection": "-", "startIntronOffset": 2823 } ], "hgvs": [ "XR_932058.1:n.89-2823G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS128102" }, { "coordinates": [ { "allele": "C", "end": 278, "endIntronDirection": "-", "endIntronOffset": 2822, "referenceAllele": "G", "start": 278, "startIntronDirection": "-", "startIntronOffset": 2823 } ], "hgvs": [ "XR_001751769.1:n.279-2823G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS598589" }, { "@id": "http://reg.genome.network/allele/PA2826346863", "coordinates": [ { "allele": "G", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252024.2:c.2711C>G" ], "proteinEffect": { "hgvs": "NP_001238953.1:p.Ser904Ter", "hgvsWellDefined": "NP_001238953.1:p.Ser904_Cys1625delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680376", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256552.11:c.2711C>G" }, "RefSeq": { "hgvs": "NM_001252024.2:c.2711C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256552.7:p.Ser904Ter" }, "RefSeq": { "hgvs": "NP_001238953.1:p.Ser904Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA213023", "coordinates": [ { "allele": "G", "end": 2777, "referenceAllele": "C", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_002420.6:c.2645C>G" ], "proteinEffect": { "hgvs": "NP_002411.3:p.Ser882Ter", "hgvsWellDefined": "NP_002411.3:p.Ser882_Cys1603delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695542" }, { "@id": "http://reg.genome.network/allele/PA916008311", "coordinates": [ { "allele": "G", "end": 2963, "referenceAllele": "C", "start": 2962 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252020.2:c.2762C>G" ], "proteinEffect": { "hgvs": "NP_001238949.1:p.Ser921Ter", "hgvsWellDefined": "NP_001238949.1:p.Ser921_Cys1642delinsGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714610" } ], "type": "nucleotide" }