{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9569229", "communityStandardTitle": [ "NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243380[alleleid]", "alleleId": 243380, "preferredName": "NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/241176", "RCV": [ "RCV000227821", "RCV000256482", "RCV000426179", "RCV001529188", "RCV002392715" ], "variationId": 241176 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-49686146-G-A", "id": "19-49686146-G-A", "variant": "19:49686146 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.49686146G>A?assembly=hg19", "id": "chr19:g.49686146G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.49182889G>A?assembly=hg38", "id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS289969" }, { "coordinates": [ { "allele": "A", "end": 364, "referenceAllele": "G", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "ENST00000595071.5:n.364G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS394909" }, { "coordinates": [ { "allele": "A", "end": 1294, "referenceAllele": "G", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "ENST00000595519.5:c.*985G>A" ], "proteinEffect": { "hgvs": "ENSP00000469893.1:n.*985G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS395112" }, { "coordinates": [ { "allele": "A", "end": 1497, "referenceAllele": "G", "start": 1496 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "ENST00000596338.5:n.1497G>A" ], "referenceSequence": 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"G", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "NM_001195227.1:c.1575G>A" ], "proteinEffect": { "hgvs": "NP_001182156.1:p.Trp525Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS016560" }, { "@id": "http://reg.genome.network/allele/PA645484558", "coordinates": [ { "allele": "A", "end": 1683, "referenceAllele": "G", "start": 1682 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "NM_017636.3:c.1575G>A" ], "proteinEffect": { "hgvs": "NP_060106.2:p.Trp525Ter", "hgvsWellDefined": "NP_060106.2:p.Trp525_Asp1214delinsAspProHisProGlyGlnGlyPheGlyGluSerMetTyrLeuLeuSerAspLysAlaThrSerProLeuSerLeuAspAlaGlyLeuGlyGlnAlaProTrpSerAspLeuLeuLeuTrpAlaLeuLeuLeuAsnArgAlaGlnMetAlaMetTyrPheTrpGluMetGlySerAsnAlaValSerSerAlaLeuGlyAlaCysLeuLeuLeuArgValMetAlaArgLeuGluProAspAlaGluGluAlaAlaArgArgLysAspLeuAlaPheLysPheGluGlyMetGlyValAspLeuPheGlyGluCysTyrArgSerSerGluValArgAlaAlaArgLeuLeuLeuArgArgCysProLeuTrpGlyAspAlaThrCysLeuGlnLeuAlaMetGlnAlaAspAlaArgAlaPhePheAlaGlnAspGlyValGlnSerLeuLeuThrGlnLysTrpTrpGlyAspMetAlaSerThrThrProIleTrpAlaLeuValLeuAlaPhePheCysProProLeuIleTyrThrArgLeuIleThrPheArgLysSerGluGluGluProThrArgGluGluLeuGluPheAspMetAspSerValIleAsnGlyGluGlyProValGlyThrAlaAspProAlaGluLysThrProLeuGlyValProArgGlnSerGlyArgProGlyCysCysGlyGlyArgCysGlyGlyArgArgCysLeuArgArgTrpPheHisPheTrpGlyAlaProValThrIlePheMetGlyAsnValValSerTyrLeuLeuPheLeuLeuLeuPheSerArgValLeuLeuValAspPheGlnProAlaProProGlySerLeuGluLeuLeuLeuTyrPheTrpAlaPheThrLeuLeuCysGluGluLeuArgGlnGlyLeuSerGlyGlyGlyGlySerLeuAlaSerGlyGlyProGlyProGlyHisAlaSerLeuSerGlnArgLeuArgLeuTyrLeuAlaAspSerTrpAsnGlnCysAspLeuValAlaLeuThrCysPheLeuLeuGlyValGlyCysArgLeuThrProGlyLeuTyrHisLeuGlyArgThrValLeuCysIleAspPheMetValPheThrValArgLeuLeuHisIlePheThrValAsnLysGlnLeuGlyProLysIleValIleValSerLysMetMetLysAspValPhePhePheLeuPhePheLeuGlyValTrpLeuValAlaTyrGlyValAlaThrGluGlyLeuLeuArgProArgAspSerAspPheProSerIleLeuArgArgValPheTyrArgProTyrLeuGlnIlePheGlyGlnIleProGlnGluAspMetAspValAlaLeuMetGluHisSerAsnCysSerSerGluProGlyPheTrpAlaHisProProGlyAlaGlnAlaGlyThrCysValSerGlnTyrAlaAsnTrpLeuValValLeuLeuLeuValIlePheLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaMetPheSerTyrThrPheGlyLysValGlnGlyAsnSerAspLeuTyrTrpLysAlaGlnArgTyrArgLeuIleArgGluPheHisSerArgProAlaLeuAlaProProPheIleValIleSerHisLeuArgLeuLeuLeuArgGlnLeuCysArgArgProArgSerProGlnProSerSerProAlaLeuGluHisPheArgValTyrLeuSerLysGluAlaGluArgLysLeuLeuThrTrpGluSerValHisLysGluAsnPheLeuLeuAlaArgAlaArgAspLysArgGluSerAspSerGluArgLeuLysArgThrSerGlnLysValAspLeuAlaLeuLysGlnLeuGlyHisIleArgGluTyrGluGlnArgLeuLysValLeuGluArgGluValGlnGlnCysSerArgValLeuGlyTrpValAlaGluAlaLeuSerArgSerAlaLeuLeuProProGlyGlyProProProProAspLeuProGlySerLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035062" }, { "coordinates": [ { "allele": "A", "end": 776, "referenceAllele": "G", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "XM_005259017.1:c.288G>A" ], "proteinEffect": { "hgvs": "XP_005259074.1:p.Trp96Ter", "hgvsWellDefined": "XP_005259074.1:p.Trp96_Asp785delinsAspProHisProGlyGlnGlyPheGlyGluSerMetTyrLeuLeuSerAspLysAlaThrSerProLeuSerLeuAspAlaGlyLeuGlyGlnAlaProTrpSerAspLeuLeuLeuTrpAlaLeuLeuLeuAsnArgAlaGlnMetAlaMetTyrPheTrpGluMetGlySerAsnAlaValSerSerAlaLeuGlyAlaCysLeuLeuLeuArgValMetAlaArgLeuGluProAspAlaGluGluAlaAlaArgArgLysAspLeuAlaPheLysPheGluGlyMetGlyValAspLeuPheGlyGluCysTyrArgSerSerGluValArgAlaAlaArgLeuLeuLeuArgArgCysProLeuTrpGlyAspAlaThrCysLeuGlnLeuAlaMetGlnAlaAspAlaArgAlaPhePheAlaGlnAspGlyValGlnSerLeuLeuThrGlnLysTrpTrpGlyAspMetAlaSerThrThrProIleTrpAlaLeuValLeuAlaPhePheCysProProLeuIleTyrThrArgLeuIleThrPheArgLysSerGluGluGluProThrArgGluGluLeuGluPheAspMetAspSerValIleAsnGlyGluGlyProValGlyThrAlaAspProAlaGluLysThrProLeuGlyValProArgGlnSerGlyArgProGlyCysCysGlyGlyArgCysGlyGlyArgArgCysLeuArgArgTrpPheHisPheTrpGlyAlaProValThrIlePheMetGlyAsnValValSerTyrLeuLeuPheLeuLeuLeuPheSerArgValLeuLeuValAspPheGlnProAlaProProGlySerLeuGluLeuLeuLeuTyrPheTrpAlaPheThrLeuLeuCysGluGluLeuArgGlnGlyLeuSerGlyGlyGlyGlySerLeuAlaSerGlyGlyProGlyProGlyHisAlaSerLeuSerGlnArgLeuArgLeuTyrLeuAlaAspSerTrpAsnGlnCysAspLeuValAlaLeuThrCysPheLeuLeuGlyValGlyCysArgLeuThrProGlyLeuTyrHisLeuGlyArgThrValLeuCysIleAspPheMetValPheThrValArgLeuLeuHisIlePheThrValAsnLysGlnLeuGlyProLysIleValIleValSerLysMetMetLysAspValPhePhePheLeuPhePheLeuGlyValTrpLeuValAlaTyrGlyValAlaThrGluGlyLeuLeuArgProArgAspSerAspPheProSerIleLeuArgArgValPheTyrArgProTyrLeuGlnIlePheGlyGlnIleProGlnGluAspMetAspValAlaLeuMetGluHisSerAsnCysSerSerGluProGlyPheTrpAlaHisProProGlyAlaGlnAlaGlyThrCysValSerGlnTyrAlaAsnTrpLeuValValLeuLeuLeuValIlePheLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaMetPheSerTyrThrPheGlyLysValGlnGlyAsnSerAspLeuTyrTrpLysAlaGlnArgTyrArgLeuIleArgGluPheHisSerArgProAlaLeuAlaProProPheIleValIleSerHisLeuArgLeuLeuLeuArgGlnLeuCysArgArgProArgSerProGlnProSerSerProAlaLeuGluHisPheArgValTyrLeuSerLysGluAlaGluArgLysLeuLeuThrTrpGluSerValHisLysGluAsnPheLeuLeuAlaArgAlaArgAspLysArgGluSerAspSerGluArgLeuLysArgThrSerGlnLysValAspLeuAlaLeuLysGlnLeuGlyHisIleArgGluTyrGluGlnArgLeuLysValLeuGluArgGluValGlnGlnCysSerArgValLeuGlyTrpValAlaGluAlaLeuSerArgSerAlaLeuLeuProProGlyGlyProProProProAspLeuProGlySerLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062266" }, { "coordinates": [ { "allele": "A", "end": 92, "endIntronDirection": "+", "endIntronOffset": 22, "referenceAllele": "G", "start": 92, "startIntronDirection": "+", "startIntronOffset": 21 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "XM_005259018.2:c.-1+22G>A" ], "proteinEffect": { "hgvs": "XP_005259075.1:n.-1+22G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS062267" }, { "coordinates": [ { "allele": "A", "end": 1294, "referenceAllele": "G", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "XM_011527046.1:c.1053G>A" ], "proteinEffect": { "hgvs": "XP_011525348.1:p.Trp351Ter", "hgvsWellDefined": "XP_011525348.1:p.Trp351_Asp1040delinsAspProHisProGlyGlnGlyPheGlyGluSerMetTyrLeuLeuSerAspLysAlaThrSerProLeuSerLeuAspAlaGlyLeuGlyGlnAlaProTrpSerAspLeuLeuLeuTrpAlaLeuLeuLeuAsnArgAlaGlnMetAlaMetTyrPheTrpGluMetGlySerAsnAlaValSerSerAlaLeuGlyAlaCysLeuLeuLeuArgValMetAlaArgLeuGluProAspAlaGluGluAlaAlaArgArgLysAspLeuAlaPheLysPheGluGlyMetGlyValAspLeuPheGlyGluCysTyrArgSerSerGluValArgAlaAlaArgLeuLeuLeuArgArgCysProLeuTrpGlyAspAlaThrCysLeuGlnLeuAlaMetGlnAlaAspAlaArgAlaPhePheAlaGlnAspGlyValGlnSerLeuLeuThrGlnLysTrpTrpGlyAspMetAlaSerThrThrProIleTrpAlaLeuValLeuAlaPhePheCysProProLeuIleTyrThrArgLeuIleThrPheArgLysSerGluGluGluProThrArgGluGluLeuGluPheAspMetAspSerValIleAsnGlyGluGlyProValGlyThrAlaAspProAlaGluLysThrProLeuGlyValProArgGlnSerGlyArgProGlyCysCysGlyGlyArgCysGlyGlyArgArgCysLeuArgArgTrpPheHisPheTrpGlyAlaProValThrIlePheMetGlyAsnValValSerTyrLeuLeuPheLeuLeuLeuPheSerArgValLeuLeuValAspPheGlnProAlaProProGlySerLeuGluLeuLeuLeuTyrPheTrpAlaPheThrLeuLeuCysGluGluLeuArgGlnGlyLeuSerGlyGlyGlyGlySerLeuAlaSerGlyGlyProGlyProGlyHisAlaSerLeuSerGlnArgLeuArgLeuTyrLeuAlaAspSerTrpAsnGlnCysAspLeuValAlaLeuThrCysPheLeuLeuGlyValGlyCysArgLeuThrProGlyLeuTyrHisLeuGlyArgThrValLeuCysIleAspPheMetValPheThrValArgLeuLeuHisIlePheThrValAsnLysGlnLeuGlyProLysIleValIleValSerLysMetMetLysAspValPhePhePheLeuPhePheLeuGlyValTrpLeuValAlaTyrGlyValAlaThrGluGlyLeuLeuArgProArgAspSerAspPheProSerIleLeuArgArgValPheTyrArgProTyrLeuGlnIlePheGlyGlnIleProGlnGluAspMetAspValAlaLeuMetGluHisSerAsnCysSerSerGluProGlyPheTrpAlaHisProProGlyAlaGlnAlaGlyThrCysValSerGlnTyrAlaAsnTrpLeuValValLeuLeuLeuValIlePheLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaMetPheSerTyrThrPheGlyLysValGlnGlyAsnSerAspLeuTyrTrpLysAlaGlnArgTyrArgLeuIleArgGluPheHisSerArgProAlaLeuAlaProProPheIleValIleSerHisLeuArgLeuLeuLeuArgGlnLeuCysArgArgProArgSerProGlnProSerSerProAlaLeuGluHisPheArgValTyrLeuSerLysGluAlaGluArgLysLeuLeuThrTrpGluSerValHisLysGluAsnPheLeuLeuAlaArgAlaArgAspLysArgGluSerAspSerGluArgLeuLysArgThrSerGlnLysValAspLeuAlaLeuLysGlnLeuGlyHisIleArgGluTyrGluGlnArgLeuLysValLeuGluArgGluValGlnGlnCysSerArgValLeuGlyTrpValAlaGluAlaLeuSerArgSerAlaLeuLeuProProGlyGlyProProProProAspLeuProGlySerLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094144" }, { "@id": "http://reg.genome.network/allele/PA2827093931", "coordinates": [ { "allele": "A", "end": 1356, "referenceAllele": "G", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "NM_001321281.1:c.1230G>A" ], "proteinEffect": { "hgvs": "NP_001308210.1:p.Trp410Ter", "hgvsWellDefined": "NP_001308210.1:p.Trp410_Asp1099delinsAspProHisProGlyGlnGlyPheGlyGluSerMetTyrLeuLeuSerAspLysAlaThrSerProLeuSerLeuAspAlaGlyLeuGlyGlnAlaProTrpSerAspLeuLeuLeuTrpAlaLeuLeuLeuAsnArgAlaGlnMetAlaMetTyrPheTrpGluMetGlySerAsnAlaValSerSerAlaLeuGlyAlaCysLeuLeuLeuArgValMetAlaArgLeuGluProAspAlaGluGluAlaAlaArgArgLysAspLeuAlaPheLysPheGluGlyMetGlyValAspLeuPheGlyGluCysTyrArgSerSerGluValArgAlaAlaArgLeuLeuLeuArgArgCysProLeuTrpGlyAspAlaThrCysLeuGlnLeuAlaMetGlnAlaAspAlaArgAlaPhePheAlaGlnAspGlyValGlnSerLeuLeuThrGlnLysTrpTrpGlyAspMetAlaSerThrThrProIleTrpAlaLeuValLeuAlaPhePheCysProProLeuIleTyrThrArgLeuIleThrPheArgLysSerGluGluGluProThrArgGluGluLeuGluPheAspMetAspSerValIleAsnGlyGluGlyProValGlyThrAlaAspProAlaGluLysThrProLeuGlyValProArgGlnSerGlyArgProGlyCysCysGlyGlyArgCysGlyGlyArgArgCysLeuArgArgTrpPheHisPheTrpGlyAlaProValThrIlePheMetGlyAsnValValSerTyrLeuLeuPheLeuLeuLeuPheSerArgValLeuLeuValAspPheGlnProAlaProProGlySerLeuGluLeuLeuLeuTyrPheTrpAlaPheThrLeuLeuCysGluGluLeuArgGlnGlyLeuSerGlyGlyGlyGlySerLeuAlaSerGlyGlyProGlyProGlyHisAlaSerLeuSerGlnArgLeuArgLeuTyrLeuAlaAspSerTrpAsnGlnCysAspLeuValAlaLeuThrCysPheLeuLeuGlyValGlyCysArgLeuThrProGlyLeuTyrHisLeuGlyArgThrValLeuCysIleAspPheMetValPheThrValArgLeuLeuHisIlePheThrValAsnLysGlnLeuGlyProLysIleValIleValSerLysMetMetLysAspValPhePhePheLeuPhePheLeuGlyValTrpLeuValAlaTyrGlyValAlaThrGluGlyLeuLeuArgProArgAspSerAspPheProSerIleLeuArgArgValPheTyrArgProTyrLeuGlnIlePheGlyGlnIleProGlnGluAspMetAspValAlaLeuMetGluHisSerAsnCysSerSerGluProGlyPheTrpAlaHisProProGlyAlaGlnAlaGlyThrCysValSerGlnTyrAlaAsnTrpLeuValValLeuLeuLeuValIlePheLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaMetPheSerTyrThrPheGlyLysValGlnGlyAsnSerAspLeuTyrTrpLysAlaGlnArgTyrArgLeuIleArgGluPheHisSerArgProAlaLeuAlaProProPheIleValIleSerHisLeuArgLeuLeuLeuArgGlnLeuCysArgArgProArgSerProGlnProSerSerProAlaLeuGluHisPheArgValTyrLeuSerLysGluAlaGluArgLysLeuLeuThrTrpGluSerValHisLysGluAsnPheLeuLeuAlaArgAlaArgAspLysArgGluSerAspSerGluArgLeuLysArgThrSerGlnLysValAspLeuAlaLeuLysGlnLeuGlyHisIleArgGluTyrGluGlnArgLeuLysValLeuGluArgGluValGlnGlnCysSerArgValLeuGlyTrpValAlaGluAlaLeuSerArgSerAlaLeuLeuProProGlyGlyProProProProAspLeuProGlySerLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514177" }, { "coordinates": [ { "allele": "A", "end": 1498, "endIntronDirection": "+", "endIntronOffset": 22, "referenceAllele": "G", "start": 1498, "startIntronDirection": "+", "startIntronOffset": 21 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "NM_001321282.1:c.-1+22G>A" ], "proteinEffect": { "hgvs": "NP_001308211.1:n.-1+22G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS514178" }, { "@id": "http://reg.genome.network/allele/PA2827097078", "coordinates": [ { "allele": "A", "end": 1345, "referenceAllele": "G", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "NM_001321283.1:c.1053G>A" ], "proteinEffect": { "hgvs": "NP_001308212.1:p.Trp351Ter", "hgvsWellDefined": "NP_001308212.1:p.Trp351_Asp1040delinsAspProHisProGlyGlnGlyPheGlyGluSerMetTyrLeuLeuSerAspLysAlaThrSerProLeuSerLeuAspAlaGlyLeuGlyGlnAlaProTrpSerAspLeuLeuLeuTrpAlaLeuLeuLeuAsnArgAlaGlnMetAlaMetTyrPheTrpGluMetGlySerAsnAlaValSerSerAlaLeuGlyAlaCysLeuLeuLeuArgValMetAlaArgLeuGluProAspAlaGluGluAlaAlaArgArgLysAspLeuAlaPheLysPheGluGlyMetGlyValAspLeuPheGlyGluCysTyrArgSerSerGluValArgAlaAlaArgLeuLeuLeuArgArgCysProLeuTrpGlyAspAlaThrCysLeuGlnLeuAlaMetGlnAlaAspAlaArgAlaPhePheAlaGlnAspGlyValGlnSerLeuLeuThrGlnLysTrpTrpGlyAspMetAlaSerThrThrProIleTrpAlaLeuValLeuAlaPhePheCysProProLeuIleTyrThrArgLeuIleThrPheArgLysSerGluGluGluProThrArgGluGluLeuGluPheAspMetAspSerValIleAsnGlyGluGlyProValGlyThrAlaAspProAlaGluLysThrProLeuGlyValProArgGlnSerGlyArgProGlyCysCysGlyGlyArgCysGlyGlyArgArgCysLeuArgArgTrpPheHisPheTrpGlyAlaProValThrIlePheMetGlyAsnValValSerTyrLeuLeuPheLeuLeuLeuPheSerArgValLeuLeuValAspPheGlnProAlaProProGlySerLeuGluLeuLeuLeuTyrPheTrpAlaPheThrLeuLeuCysGluGluLeuArgGlnGlyLeuSerGlyGlyGlyGlySerLeuAlaSerGlyGlyProGlyProGlyHisAlaSerLeuSerGlnArgLeuArgLeuTyrLeuAlaAspSerTrpAsnGlnCysAspLeuValAlaLeuThrCysPheLeuLeuGlyValGlyCysArgLeuThrProGlyLeuTyrHisLeuGlyArgThrValLeuCysIleAspPheMetValPheThrValArgLeuLeuHisIlePheThrValAsnLysGlnLeuGlyProLysIleValIleValSerLysMetMetLysAspValPhePhePheLeuPhePheLeuGlyValTrpLeuValAlaTyrGlyValAlaThrGluGlyLeuLeuArgProArgAspSerAspPheProSerIleLeuArgArgValPheTyrArgProTyrLeuGlnIlePheGlyGlnIleProGlnGluAspMetAspValAlaLeuMetGluHisSerAsnCysSerSerGluProGlyPheTrpAlaHisProProGlyAlaGlnAlaGlyThrCysValSerGlnTyrAlaAsnTrpLeuValValLeuLeuLeuValIlePheLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaMetPheSerTyrThrPheGlyLysValGlnGlyAsnSerAspLeuTyrTrpLysAlaGlnArgTyrArgLeuIleArgGluPheHisSerArgProAlaLeuAlaProProPheIleValIleSerHisLeuArgLeuLeuLeuArgGlnLeuCysArgArgProArgSerProGlnProSerSerProAlaLeuGluHisPheArgValTyrLeuSerLysGluAlaGluArgLysLeuLeuThrTrpGluSerValHisLysGluAsnPheLeuLeuAlaArgAlaArgAspLysArgGluSerAspSerGluArgLeuLysArgThrSerGlnLysValAspLeuAlaLeuLysGlnLeuGlyHisIleArgGluTyrGluGlnArgLeuLysValLeuGluArgGluValGlnGlnCysSerArgValLeuGlyTrpValAlaGluAlaLeuSerArgSerAlaLeuLeuProProGlyGlyProProProProAspLeuProGlySerLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514179" }, { "@id": "http://reg.genome.network/allele/PA2827098370", "coordinates": [ { "allele": "A", "end": 968, "referenceAllele": "G", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "NM_001321285.1:c.513G>A" ], "proteinEffect": { "hgvs": "NP_001308214.1:p.Trp171Ter", "hgvsWellDefined": "NP_001308214.1:p.Trp171_Asp860delinsAspProHisProGlyGlnGlyPheGlyGluSerMetTyrLeuLeuSerAspLysAlaThrSerProLeuSerLeuAspAlaGlyLeuGlyGlnAlaProTrpSerAspLeuLeuLeuTrpAlaLeuLeuLeuAsnArgAlaGlnMetAlaMetTyrPheTrpGluMetGlySerAsnAlaValSerSerAlaLeuGlyAlaCysLeuLeuLeuArgValMetAlaArgLeuGluProAspAlaGluGluAlaAlaArgArgLysAspLeuAlaPheLysPheGluGlyMetGlyValAspLeuPheGlyGluCysTyrArgSerSerGluValArgAlaAlaArgLeuLeuLeuArgArgCysProLeuTrpGlyAspAlaThrCysLeuGlnLeuAlaMetGlnAlaAspAlaArgAlaPhePheAlaGlnAspGlyValGlnSerLeuLeuThrGlnLysTrpTrpGlyAspMetAlaSerThrThrProIleTrpAlaLeuValLeuAlaPhePheCysProProLeuIleTyrThrArgLeuIleThrPheArgLysSerGluGluGluProThrArgGluGluLeuGluPheAspMetAspSerValIleAsnGlyGluGlyProValGlyThrAlaAspProAlaGluLysThrProLeuGlyValProArgGlnSerGlyArgProGlyCysCysGlyGlyArgCysGlyGlyArgArgCysLeuArgArgTrpPheHisPheTrpGlyAlaProValThrIlePheMetGlyAsnValValSerTyrLeuLeuPheLeuLeuLeuPheSerArgValLeuLeuValAspPheGlnProAlaProProGlySerLeuGluLeuLeuLeuTyrPheTrpAlaPheThrLeuLeuCysGluGluLeuArgGlnGlyLeuSerGlyGlyGlyGlySerLeuAlaSerGlyGlyProGlyProGlyHisAlaSerLeuSerGlnArgLeuArgLeuTyrLeuAlaAspSerTrpAsnGlnCysAspLeuValAlaLeuThrCysPheLeuLeuGlyValGlyCysArgLeuThrProGlyLeuTyrHisLeuGlyArgThrValLeuCysIleAspPheMetValPheThrValArgLeuLeuHisIlePheThrValAsnLysGlnLeuGlyProLysIleValIleValSerLysMetMetLysAspValPhePhePheLeuPhePheLeuGlyValTrpLeuValAlaTyrGlyValAlaThrGluGlyLeuLeuArgProArgAspSerAspPheProSerIleLeuArgArgValPheTyrArgProTyrLeuGlnIlePheGlyGlnIleProGlnGluAspMetAspValAlaLeuMetGluHisSerAsnCysSerSerGluProGlyPheTrpAlaHisProProGlyAlaGlnAlaGlyThrCysValSerGlnTyrAlaAsnTrpLeuValValLeuLeuLeuValIlePheLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaMetPheSerTyrThrPheGlyLysValGlnGlyAsnSerAspLeuTyrTrpLysAlaGlnArgTyrArgLeuIleArgGluPheHisSerArgProAlaLeuAlaProProPheIleValIleSerHisLeuArgLeuLeuLeuArgGlnLeuCysArgArgProArgSerProGlnProSerSerProAlaLeuGluHisPheArgValTyrLeuSerLysGluAlaGluArgLysLeuLeuThrTrpGluSerValHisLysGluAsnPheLeuLeuAlaArgAlaArgAspLysArgGluSerAspSerGluArgLeuLysArgThrSerGlnLysValAspLeuAlaLeuLysGlnLeuGlyHisIleArgGluTyrGluGlnArgLeuLysValLeuGluArgGluValGlnGlnCysSerArgValLeuGlyTrpValAlaGluAlaLeuSerArgSerAlaLeuLeuProProGlyGlyProProProProAspLeuProGlySerLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514181" }, { "coordinates": [ { "allele": "A", "end": 867, "endIntronDirection": "+", "endIntronOffset": 22, "referenceAllele": "G", "start": 867, "startIntronDirection": "+", "startIntronOffset": 21 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "XM_024451557.1:c.-542+22G>A" ], "proteinEffect": { "hgvs": "XP_024307325.1:n.-542+22G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585069" }, { "@id": "http://reg.genome.network/allele/PA645484558", "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "NM_017636.4:c.1575G>A" ], "proteinEffect": { "hgvs": "NP_060106.2:p.Trp525Ter", "hgvsWellDefined": "NP_060106.2:p.Trp525_Asp1214delinsAspProHisProGlyGlnGlyPheGlyGluSerMetTyrLeuLeuSerAspLysAlaThrSerProLeuSerLeuAspAlaGlyLeuGlyGlnAlaProTrpSerAspLeuLeuLeuTrpAlaLeuLeuLeuAsnArgAlaGlnMetAlaMetTyrPheTrpGluMetGlySerAsnAlaValSerSerAlaLeuGlyAlaCysLeuLeuLeuArgValMetAlaArgLeuGluProAspAlaGluGluAlaAlaArgArgLysAspLeuAlaPheLysPheGluGlyMetGlyValAspLeuPheGlyGluCysTyrArgSerSerGluValArgAlaAlaArgLeuLeuLeuArgArgCysProLeuTrpGlyAspAlaThrCysLeuGlnLeuAlaMetGlnAlaAspAlaArgAlaPhePheAlaGlnAspGlyValGlnSerLeuLeuThrGlnLysTrpTrpGlyAspMetAlaSerThrThrProIleTrpAlaLeuValLeuAlaPhePheCysProProLeuIleTyrThrArgLeuIleThrPheArgLysSerGluGluGluProThrArgGluGluLeuGluPheAspMetAspSerValIleAsnGlyGluGlyProValGlyThrAlaAspProAlaGluLysThrProLeuGlyValProArgGlnSerGlyArgProGlyCysCysGlyGlyArgCysGlyGlyArgArgCysLeuArgArgTrpPheHisPheTrpGlyAlaProValThrIlePheMetGlyAsnValValSerTyrLeuLeuPheLeuLeuLeuPheSerArgValLeuLeuValAspPheGlnProAlaProProGlySerLeuGluLeuLeuLeuTyrPheTrpAlaPheThrLeuLeuCysGluGluLeuArgGlnGlyLeuSerGlyGlyGlyGlySerLeuAlaSerGlyGlyProGlyProGlyHisAlaSerLeuSerGlnArgLeuArgLeuTyrLeuAlaAspSerTrpAsnGlnCysAspLeuValAlaLeuThrCysPheLeuLeuGlyValGlyCysArgLeuThrProGlyLeuTyrHisLeuGlyArgThrValLeuCysIleAspPheMetValPheThrValArgLeuLeuHisIlePheThrValAsnLysGlnLeuGlyProLysIleValIleValSerLysMetMetLysAspValPhePhePheLeuPhePheLeuGlyValTrpLeuValAlaTyrGlyValAlaThrGluGlyLeuLeuArgProArgAspSerAspPheProSerIleLeuArgArgValPheTyrArgProTyrLeuGlnIlePheGlyGlnIleProGlnGluAspMetAspValAlaLeuMetGluHisSerAsnCysSerSerGluProGlyPheTrpAlaHisProProGlyAlaGlnAlaGlyThrCysValSerGlnTyrAlaAsnTrpLeuValValLeuLeuLeuValIlePheLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaMetPheSerTyrThrPheGlyLysValGlnGlyAsnSerAspLeuTyrTrpLysAlaGlnArgTyrArgLeuIleArgGluPheHisSerArgProAlaLeuAlaProProPheIleValIleSerHisLeuArgLeuLeuLeuArgGlnLeuCysArgArgProArgSerProGlnProSerSerProAlaLeuGluHisPheArgValTyrLeuSerLysGluAlaGluArgLysLeuLeuThrTrpGluSerValHisLysGluAsnPheLeuLeuAlaArgAlaArgAspLysArgGluSerAspSerGluArgLeuLysArgThrSerGlnLysValAspLeuAlaLeuLysGlnLeuGlyHisIleArgGluTyrGluGlnArgLeuLysValLeuGluArgGluValGlnGlnCysSerArgValLeuGlyTrpValAlaGluAlaLeuSerArgSerAlaLeuLeuProProGlyGlyProProProProAspLeuProGlySerLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669306", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252826.10:c.1575G>A" }, "RefSeq": { "hgvs": "NM_017636.4:c.1575G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252826.4:p.Trp525Ter" }, "RefSeq": { "hgvs": "NP_060106.2:p.Trp525Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826199255", "coordinates": [ { "allele": "A", "end": 1650, "referenceAllele": "G", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "NM_001195227.2:c.1575G>A" ], "proteinEffect": { "hgvs": "NP_001182156.1:p.Trp525Ter", "hgvsWellDefined": "NP_001182156.1:p.Trp525_Asp1069delinsAspProHisProGlyGlnGlyPheGlyGluSerMetTyrLeuLeuSerAspLysAlaThrSerProLeuSerLeuAspAlaGlyLeuGlyGlnAlaProTrpSerAspLeuLeuLeuTrpAlaLeuLeuLeuAsnArgAlaGlnMetAlaMetTyrPheTrpGluMetGlySerAsnAlaValSerSerAlaLeuGlyAlaCysLeuLeuLeuArgValMetAlaArgLeuGluProAspAlaGluGluAlaAlaArgArgLysAspLeuAlaPheLysPheGluGlyMetGlyValAspLeuPheGlyGluCysTyrArgSerSerGluValArgAlaAlaArgLeuLeuLeuArgArgCysProLeuTrpGlyAspAlaThrCysLeuGlnLeuAlaMetGlnAlaAspAlaArgAlaPhePheAlaGlnAspGlyValGlnSerLeuLeuThrGlnLysTrpTrpGlyAspMetAlaSerThrThrProIleTrpAlaLeuValLeuAlaPhePheCysProProLeuIleTyrThrArgLeuIleThrPheArgLysSerGluGluGluProThrArgGluGluLeuGluPheAspMetAspSerValIleAsnGlyGluGlyProValGlyLeuThrProGlyLeuTyrHisLeuGlyArgThrValLeuCysIleAspPheMetValPheThrValArgLeuLeuHisIlePheThrValAsnLysGlnLeuGlyProLysIleValIleValSerLysMetMetLysAspValPhePhePheLeuPhePheLeuGlyValTrpLeuValAlaTyrGlyValAlaThrGluGlyLeuLeuArgProArgAspSerAspPheProSerIleLeuArgArgValPheTyrArgProTyrLeuGlnIlePheGlyGlnIleProGlnGluAspMetAspValAlaLeuMetGluHisSerAsnCysSerSerGluProGlyPheTrpAlaHisProProGlyAlaGlnAlaGlyThrCysValSerGlnTyrAlaAsnTrpLeuValValLeuLeuLeuValIlePheLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaMetPheSerTyrThrPheGlyLysValGlnGlyAsnSerAspLeuTyrTrpLysAlaGlnArgTyrArgLeuIleArgGluPheHisSerArgProAlaLeuAlaProProPheIleValIleSerHisLeuArgLeuLeuLeuArgGlnLeuCysArgArgProArgSerProGlnProSerSerProAlaLeuGluHisPheArgValTyrLeuSerLysGluAlaGluArgLysLeuLeuThrTrpGluSerValHisLysGluAsnPheLeuLeuAlaArgAlaArgAspLysArgGluSerAspSerGluArgLeuLysArgThrSerGlnLysValAspLeuAlaLeuLysGlnLeuGlyHisIleArgGluTyrGluGlnArgLeuLysValLeuGluArgGluValGlnGlnCysSerArgValLeuGlyTrpValAlaGluAlaLeuSerArgSerAlaLeuLeuProProGlyGlyProProProProAspLeuProGlySerLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679291" }, { "@id": "http://reg.genome.network/allele/PA2827093931", "coordinates": [ { "allele": "A", "end": 1305, "referenceAllele": "G", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "NM_001321281.2:c.1230G>A" ], "proteinEffect": { "hgvs": "NP_001308210.1:p.Trp410Ter", "hgvsWellDefined": "NP_001308210.1:p.Trp410_Asp1099delinsAspProHisProGlyGlnGlyPheGlyGluSerMetTyrLeuLeuSerAspLysAlaThrSerProLeuSerLeuAspAlaGlyLeuGlyGlnAlaProTrpSerAspLeuLeuLeuTrpAlaLeuLeuLeuAsnArgAlaGlnMetAlaMetTyrPheTrpGluMetGlySerAsnAlaValSerSerAlaLeuGlyAlaCysLeuLeuLeuArgValMetAlaArgLeuGluProAspAlaGluGluAlaAlaArgArgLysAspLeuAlaPheLysPheGluGlyMetGlyValAspLeuPheGlyGluCysTyrArgSerSerGluValArgAlaAlaArgLeuLeuLeuArgArgCysProLeuTrpGlyAspAlaThrCysLeuGlnLeuAlaMetGlnAlaAspAlaArgAlaPhePheAlaGlnAspGlyValGlnSerLeuLeuThrGlnLysTrpTrpGlyAspMetAlaSerThrThrProIleTrpAlaLeuValLeuAlaPhePheCysProProLeuIleTyrThrArgLeuIleThrPheArgLysSerGluGluGluProThrArgGluGluLeuGluPheAspMetAspSerValIleAsnGlyGluGlyProValGlyThrAlaAspProAlaGluLysThrProLeuGlyValProArgGlnSerGlyArgProGlyCysCysGlyGlyArgCysGlyGlyArgArgCysLeuArgArgTrpPheHisPheTrpGlyAlaProValThrIlePheMetGlyAsnValValSerTyrLeuLeuPheLeuLeuLeuPheSerArgValLeuLeuValAspPheGlnProAlaProProGlySerLeuGluLeuLeuLeuTyrPheTrpAlaPheThrLeuLeuCysGluGluLeuArgGlnGlyLeuSerGlyGlyGlyGlySerLeuAlaSerGlyGlyProGlyProGlyHisAlaSerLeuSerGlnArgLeuArgLeuTyrLeuAlaAspSerTrpAsnGlnCysAspLeuValAlaLeuThrCysPheLeuLeuGlyValGlyCysArgLeuThrProGlyLeuTyrHisLeuGlyArgThrValLeuCysIleAspPheMetValPheThrValArgLeuLeuHisIlePheThrValAsnLysGlnLeuGlyProLysIleValIleValSerLysMetMetLysAspValPhePhePheLeuPhePheLeuGlyValTrpLeuValAlaTyrGlyValAlaThrGluGlyLeuLeuArgProArgAspSerAspPheProSerIleLeuArgArgValPheTyrArgProTyrLeuGlnIlePheGlyGlnIleProGlnGluAspMetAspValAlaLeuMetGluHisSerAsnCysSerSerGluProGlyPheTrpAlaHisProProGlyAlaGlnAlaGlyThrCysValSerGlnTyrAlaAsnTrpLeuValValLeuLeuLeuValIlePheLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaMetPheSerTyrThrPheGlyLysValGlnGlyAsnSerAspLeuTyrTrpLysAlaGlnArgTyrArgLeuIleArgGluPheHisSerArgProAlaLeuAlaProProPheIleValIleSerHisLeuArgLeuLeuLeuArgGlnLeuCysArgArgProArgSerProGlnProSerSerProAlaLeuGluHisPheArgValTyrLeuSerLysGluAlaGluArgLysLeuLeuThrTrpGluSerValHisLysGluAsnPheLeuLeuAlaArgAlaArgAspLysArgGluSerAspSerGluArgLeuLysArgThrSerGlnLysValAspLeuAlaLeuLysGlnLeuGlyHisIleArgGluTyrGluGlnArgLeuLysValLeuGluArgGluValGlnGlnCysSerArgValLeuGlyTrpValAlaGluAlaLeuSerArgSerAlaLeuLeuProProGlyGlyProProProProAspLeuProGlySerLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685286" }, { "coordinates": [ { "allele": "A", "end": 1447, "endIntronDirection": "+", "endIntronOffset": 22, "referenceAllele": "G", "start": 1447, "startIntronDirection": "+", "startIntronOffset": 21 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "NM_001321282.2:c.-1+22G>A" ], "proteinEffect": { "hgvs": "NP_001308211.1:n.-1+22G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS685287" }, { "@id": "http://reg.genome.network/allele/PA2827097078", "coordinates": [ { "allele": "A", "end": 1294, "referenceAllele": "G", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "NM_001321283.2:c.1053G>A" ], "proteinEffect": { "hgvs": "NP_001308212.1:p.Trp351Ter", "hgvsWellDefined": "NP_001308212.1:p.Trp351_Asp1040delinsAspProHisProGlyGlnGlyPheGlyGluSerMetTyrLeuLeuSerAspLysAlaThrSerProLeuSerLeuAspAlaGlyLeuGlyGlnAlaProTrpSerAspLeuLeuLeuTrpAlaLeuLeuLeuAsnArgAlaGlnMetAlaMetTyrPheTrpGluMetGlySerAsnAlaValSerSerAlaLeuGlyAlaCysLeuLeuLeuArgValMetAlaArgLeuGluProAspAlaGluGluAlaAlaArgArgLysAspLeuAlaPheLysPheGluGlyMetGlyValAspLeuPheGlyGluCysTyrArgSerSerGluValArgAlaAlaArgLeuLeuLeuArgArgCysProLeuTrpGlyAspAlaThrCysLeuGlnLeuAlaMetGlnAlaAspAlaArgAlaPhePheAlaGlnAspGlyValGlnSerLeuLeuThrGlnLysTrpTrpGlyAspMetAlaSerThrThrProIleTrpAlaLeuValLeuAlaPhePheCysProProLeuIleTyrThrArgLeuIleThrPheArgLysSerGluGluGluProThrArgGluGluLeuGluPheAspMetAspSerValIleAsnGlyGluGlyProValGlyThrAlaAspProAlaGluLysThrProLeuGlyValProArgGlnSerGlyArgProGlyCysCysGlyGlyArgCysGlyGlyArgArgCysLeuArgArgTrpPheHisPheTrpGlyAlaProValThrIlePheMetGlyAsnValValSerTyrLeuLeuPheLeuLeuLeuPheSerArgValLeuLeuValAspPheGlnProAlaProProGlySerLeuGluLeuLeuLeuTyrPheTrpAlaPheThrLeuLeuCysGluGluLeuArgGlnGlyLeuSerGlyGlyGlyGlySerLeuAlaSerGlyGlyProGlyProGlyHisAlaSerLeuSerGlnArgLeuArgLeuTyrLeuAlaAspSerTrpAsnGlnCysAspLeuValAlaLeuThrCysPheLeuLeuGlyValGlyCysArgLeuThrProGlyLeuTyrHisLeuGlyArgThrValLeuCysIleAspPheMetValPheThrValArgLeuLeuHisIlePheThrValAsnLysGlnLeuGlyProLysIleValIleValSerLysMetMetLysAspValPhePhePheLeuPhePheLeuGlyValTrpLeuValAlaTyrGlyValAlaThrGluGlyLeuLeuArgProArgAspSerAspPheProSerIleLeuArgArgValPheTyrArgProTyrLeuGlnIlePheGlyGlnIleProGlnGluAspMetAspValAlaLeuMetGluHisSerAsnCysSerSerGluProGlyPheTrpAlaHisProProGlyAlaGlnAlaGlyThrCysValSerGlnTyrAlaAsnTrpLeuValValLeuLeuLeuValIlePheLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaMetPheSerTyrThrPheGlyLysValGlnGlyAsnSerAspLeuTyrTrpLysAlaGlnArgTyrArgLeuIleArgGluPheHisSerArgProAlaLeuAlaProProPheIleValIleSerHisLeuArgLeuLeuLeuArgGlnLeuCysArgArgProArgSerProGlnProSerSerProAlaLeuGluHisPheArgValTyrLeuSerLysGluAlaGluArgLysLeuLeuThrTrpGluSerValHisLysGluAsnPheLeuLeuAlaArgAlaArgAspLysArgGluSerAspSerGluArgLeuLysArgThrSerGlnLysValAspLeuAlaLeuLysGlnLeuGlyHisIleArgGluTyrGluGlnArgLeuLysValLeuGluArgGluValGlnGlnCysSerArgValLeuGlyTrpValAlaGluAlaLeuSerArgSerAlaLeuLeuProProGlyGlyProProProProAspLeuProGlySerLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685288" }, { "@id": "http://reg.genome.network/allele/PA2827098370", "coordinates": [ { "allele": "A", "end": 917, "referenceAllele": "G", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN017993", "geneNCBI_id": 54795, "geneSymbol": "TRPM4", "hgvs": [ "NM_001321285.2:c.513G>A" ], "proteinEffect": { "hgvs": "NP_001308214.1:p.Trp171Ter", "hgvsWellDefined": "NP_001308214.1:p.Trp171_Asp860delinsAspProHisProGlyGlnGlyPheGlyGluSerMetTyrLeuLeuSerAspLysAlaThrSerProLeuSerLeuAspAlaGlyLeuGlyGlnAlaProTrpSerAspLeuLeuLeuTrpAlaLeuLeuLeuAsnArgAlaGlnMetAlaMetTyrPheTrpGluMetGlySerAsnAlaValSerSerAlaLeuGlyAlaCysLeuLeuLeuArgValMetAlaArgLeuGluProAspAlaGluGluAlaAlaArgArgLysAspLeuAlaPheLysPheGluGlyMetGlyValAspLeuPheGlyGluCysTyrArgSerSerGluValArgAlaAlaArgLeuLeuLeuArgArgCysProLeuTrpGlyAspAlaThrCysLeuGlnLeuAlaMetGlnAlaAspAlaArgAlaPhePheAlaGlnAspGlyValGlnSerLeuLeuThrGlnLysTrpTrpGlyAspMetAlaSerThrThrProIleTrpAlaLeuValLeuAlaPhePheCysProProLeuIleTyrThrArgLeuIleThrPheArgLysSerGluGluGluProThrArgGluGluLeuGluPheAspMetAspSerValIleAsnGlyGluGlyProValGlyThrAlaAspProAlaGluLysThrProLeuGlyValProArgGlnSerGlyArgProGlyCysCysGlyGlyArgCysGlyGlyArgArgCysLeuArgArgTrpPheHisPheTrpGlyAlaProValThrIlePheMetGlyAsnValValSerTyrLeuLeuPheLeuLeuLeuPheSerArgValLeuLeuValAspPheGlnProAlaProProGlySerLeuGluLeuLeuLeuTyrPheTrpAlaPheThrLeuLeuCysGluGluLeuArgGlnGlyLeuSerGlyGlyGlyGlySerLeuAlaSerGlyGlyProGlyProGlyHisAlaSerLeuSerGlnArgLeuArgLeuTyrLeuAlaAspSerTrpAsnGlnCysAspLeuValAlaLeuThrCysPheLeuLeuGlyValGlyCysArgLeuThrProGlyLeuTyrHisLeuGlyArgThrValLeuCysIleAspPheMetValPheThrValArgLeuLeuHisIlePheThrValAsnLysGlnLeuGlyProLysIleValIleValSerLysMetMetLysAspValPhePhePheLeuPhePheLeuGlyValTrpLeuValAlaTyrGlyValAlaThrGluGlyLeuLeuArgProArgAspSerAspPheProSerIleLeuArgArgValPheTyrArgProTyrLeuGlnIlePheGlyGlnIleProGlnGluAspMetAspValAlaLeuMetGluHisSerAsnCysSerSerGluProGlyPheTrpAlaHisProProGlyAlaGlnAlaGlyThrCysValSerGlnTyrAlaAsnTrpLeuValValLeuLeuLeuValIlePheLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaMetPheSerTyrThrPheGlyLysValGlnGlyAsnSerAspLeuTyrTrpLysAlaGlnArgTyrArgLeuIleArgGluPheHisSerArgProAlaLeuAlaProProPheIleValIleSerHisLeuArgLeuLeuLeuArgGlnLeuCysArgArgProArgSerProGlnProSerSerProAlaLeuGluHisPheArgValTyrLeuSerLysGluAlaGluArgLysLeuLeuThrTrpGluSerValHisLysGluAsnPheLeuLeuAlaArgAlaArgAspLysArgGluSerAspSerGluArgLeuLysArgThrSerGlnLysValAspLeuAlaLeuLysGlnLeuGlyHisIleArgGluTyrGluGlnArgLeuLysValLeuGluArgGluValGlnGlnCysSerArgValLeuGlyTrpValAlaGluAlaLeuSerArgSerAlaLeuLeuProProGlyGlyProProProProAspLeuProGlySerLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685289" } ], "type": "nucleotide" }