{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350498532", "communityStandardTitle": [ "NM_014140.4(SMARCAL1):c.1000C>T (p.Arg334Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1016233", "active": true, "id": "COSM1016233" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1059172[alleleid]", "alleleId": 1059172, "preferredName": "NM_014140.4(SMARCAL1):c.1000C>T (p.Arg334Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1073208", "RCV": [ "RCV001386132" ], "variationId": 1073208 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.217285159C>T?assembly=hg19", "id": "chr2:g.217285159C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.216420436C>T?assembly=hg38", "id": "chr2:g.216420436C>T" } ], "dbSNP": [ { "@id": 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"http://reg.genome.network/refseq/RS909060" }, { "coordinates": [ { "allele": "T", "end": 1232, "referenceAllele": "C", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697903.1:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000513472.1:p.Arg334Ter", "hgvsWellDefined": "ENSP00000513472.1:p.Arg334_Leu453delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValLysProSerPheGlyGlyCysHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909061" }, { "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, 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"referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697907.1:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000513476.1:p.Arg334Ter", "hgvsWellDefined": "ENSP00000513476.1:p.Arg334_Gln381delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrGlyLysCysGlnAspGlnGluValGluLeuSerLeuGlyArgAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909065" }, { "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000357276.9:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000349823.4:p.Arg334Ter", "hgvsWellDefined": "ENSP00000349823.4:p.Arg334_Leu954delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748922", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357276.9:c.1000C>T" }, "RefSeq": { "hgvs": "NM_014140.4:c.1000C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349823.4:p.Arg334Ter" }, "RefSeq": { "hgvs": "NP_054859.2:p.Arg334Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "C", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000357276.8:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000349823.4:p.Arg334Ter", "hgvsWellDefined": "ENSP00000349823.4:p.Arg334_Leu954delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264043" }, { "coordinates": [ { "allele": "T", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000358207.9:c.1000C>T" ], "proteinEffect": { "hgvs": "ENSP00000350940.5:p.Arg334Ter", "hgvsWellDefined": "ENSP00000350940.5:p.Arg334_Leu954delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264375" }, { "coordinates": [ { "allele": "T", "end": 592, "referenceAllele": "C", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000392128.6:c.592C>T" ], "proteinEffect": { "hgvs": "ENSP00000375974.2:p.Arg198Ter", "hgvsWellDefined": "ENSP00000375974.2:p.Arg198_Leu796delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274936" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000412913.1:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000390248.1:p.Arg54Ter", "hgvsWellDefined": "ENSP00000390248.1:p.Arg54Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS282826" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000427645.5:c.697C>T" ], "proteinEffect": { "hgvs": "ENSP00000392997.1:p.Arg233Ter", "hgvsWellDefined": "ENSP00000392997.1:p.Arg233_Val326del" }, "referenceSequence": "http://reg.genome.network/refseq/RS289800" }, { "@id": "http://reg.genome.network/allele/PA2825629785", "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_001127207.1:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001120679.1:p.Arg334Ter", "hgvsWellDefined": "NP_001120679.1:p.Arg334_Leu954delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011543" }, { "@id": "http://reg.genome.network/allele/PA2499277740", "coordinates": [ { "allele": "T", "end": 1330, "referenceAllele": "C", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_014140.3:c.1000C>T", "LRG_108t1:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_054859.2:p.Arg334Ter", "hgvsWellDefined": "NP_054859.2:p.Arg334_Leu954delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032934" }, { "coordinates": [ { "allele": "T", "end": 1268, "referenceAllele": "C", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246631.2:c.1000C>T" ], "proteinEffect": { "hgvs": "XP_005246688.1:p.Arg334Ter", "hgvsWellDefined": "XP_005246688.1:p.Arg334_Leu954delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057716" }, { "coordinates": [ { "allele": "T", "end": 1320, "referenceAllele": "C", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246632.1:c.1000C>T" ], "proteinEffect": { "hgvs": "XP_005246689.1:p.Arg334Ter", "hgvsWellDefined": "XP_005246689.1:p.Arg334_Leu954delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057717" }, { "coordinates": [ { "allele": "T", "end": 1313, "referenceAllele": "C", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_006712557.1:c.1000C>T" ], "proteinEffect": { "hgvs": "XP_006712620.1:p.Arg334Ter", "hgvsWellDefined": "XP_006712620.1:p.Arg334_Leu932delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069710" }, { "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246632.2:c.1000C>T" ], "proteinEffect": { "hgvs": "XP_005246689.1:p.Arg334Ter", "hgvsWellDefined": "XP_005246689.1:p.Arg334_Leu954delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532654" }, { "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_017004228.2:c.84C>T" ], "proteinEffect": { "hgvs": "XP_016859717.1:p.Gly28=" }, "referenceSequence": "http://reg.genome.network/refseq/RS559780" }, { "@id": "http://reg.genome.network/allele/PA2825629785", "coordinates": [ { "allele": "T", "end": 1129, "referenceAllele": "C", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_001127207.2:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_001120679.1:p.Arg334Ter", "hgvsWellDefined": "NP_001120679.1:p.Arg334_Leu954delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676852" }, { "@id": "http://reg.genome.network/allele/PA2499277740", "coordinates": [ { "allele": "T", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_014140.4:c.1000C>T" ], "proteinEffect": { "hgvs": "NP_054859.2:p.Arg334Ter", "hgvsWellDefined": "NP_054859.2:p.Arg334_Leu954delinsCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697187", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357276.9:c.1000C>T" }, "RefSeq": { "hgvs": "NM_014140.4:c.1000C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349823.4:p.Arg334Ter" }, "RefSeq": { "hgvs": "NP_054859.2:p.Arg334Ter" } } } } ], "type": "nucleotide" }