{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350501793", "communityStandardTitle": [ "NM_014140.4(SMARCAL1):c.1810C>T (p.Gln604Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2419415[alleleid]", "alleleId": 2419415, "preferredName": "NM_014140.4(SMARCAL1):c.1810C>T (p.Gln604Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2445993", "RCV": [ "RCV003156047" ], "variationId": 2445993 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.217311840C>T?assembly=hg19", "id": "chr2:g.217311840C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.216447117C>T?assembly=hg38", "id": "chr2:g.216447117C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2469012609", "rs": 2469012609 } ], "gnomAD_4": [ { "@id": 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"http://reg.genome.network/refseq/RS909067" }, { "coordinates": [ { "allele": "T", "end": 2070, "referenceAllele": "C", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000357276.9:c.1810C>T" ], "proteinEffect": { "hgvs": "ENSP00000349823.4:p.Gln604Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748922", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357276.9:c.1810C>T" }, "RefSeq": { "hgvs": "NM_014140.4:c.1810C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349823.4:p.Gln604Ter" }, "RefSeq": { "hgvs": "NP_054859.2:p.Gln604Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2140, "referenceAllele": "C", "start": 2139 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000357276.8:c.1810C>T" ], "proteinEffect": { "hgvs": "ENSP00000349823.4:p.Gln604Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS264043" }, { "coordinates": [ { "allele": "T", "end": 1961, "referenceAllele": "C", "start": 1960 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000358207.9:c.1810C>T" ], "proteinEffect": { "hgvs": "ENSP00000350940.5:p.Gln604Ter", "hgvsWellDefined": "ENSP00000350940.5:p.Gln604_Leu954delinsPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264375" }, { "coordinates": [ { "allele": "T", "end": 1336, "referenceAllele": "C", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000392128.6:c.1336C>T" ], "proteinEffect": { "hgvs": "ENSP00000375974.2:p.Gln446Ter", "hgvsWellDefined": "ENSP00000375974.2:p.Gln446_Leu796delinsPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274936" }, { "@id": "http://reg.genome.network/allele/PA2825630071", "coordinates": [ { "allele": "T", "end": 1954, "referenceAllele": "C", "start": 1953 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_001127207.1:c.1810C>T" ], "proteinEffect": { "hgvs": "NP_001120679.1:p.Gln604Ter", "hgvsWellDefined": "NP_001120679.1:p.Gln604_Leu954delinsPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011543" }, { "@id": "http://reg.genome.network/allele/PA2580368469", "coordinates": [ { "allele": "T", "end": 2140, "referenceAllele": "C", "start": 2139 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_014140.3:c.1810C>T", "LRG_108t1:c.1810C>T" ], "proteinEffect": { "hgvs": "NP_054859.2:p.Gln604Ter", "hgvsWellDefined": "NP_054859.2:p.Gln604_Leu954delinsPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032934" }, { "coordinates": [ { "allele": "T", "end": 2078, "referenceAllele": "C", "start": 2077 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246631.2:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_005246688.1:p.Gln604Ter", "hgvsWellDefined": "XP_005246688.1:p.Gln604_Leu954delinsPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057716" }, { "coordinates": [ { "allele": "T", "end": 2130, "referenceAllele": "C", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246632.1:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_005246689.1:p.Gln604Ter", "hgvsWellDefined": "XP_005246689.1:p.Gln604_Leu954delinsPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057717" }, { "coordinates": [ { "allele": "T", "end": 2057, "referenceAllele": "C", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_006712557.1:c.1744C>T" ], "proteinEffect": { "hgvs": "XP_006712620.1:p.Gln582Ter", "hgvsWellDefined": "XP_006712620.1:p.Gln582_Leu932delinsPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069710" }, { "coordinates": [ { "allele": "T", "end": 2071, "referenceAllele": "C", "start": 2070 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246632.2:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_005246689.1:p.Gln604Ter", "hgvsWellDefined": "XP_005246689.1:p.Gln604_Leu954delinsPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532654" }, { "coordinates": [ { "allele": "T", "end": 1932, "referenceAllele": "C", "start": 1931 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_017004228.2:c.898C>T" ], "proteinEffect": { "hgvs": "XP_016859717.1:p.Gln300Ter", "hgvsWellDefined": "XP_016859717.1:p.Gln300_Leu650delinsPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS559780" }, { "@id": "http://reg.genome.network/allele/PA2825630071", "coordinates": [ { "allele": "T", "end": 1939, "referenceAllele": "C", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_001127207.2:c.1810C>T" ], "proteinEffect": { "hgvs": "NP_001120679.1:p.Gln604Ter", "hgvsWellDefined": "NP_001120679.1:p.Gln604_Leu954delinsPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676852" }, { "@id": "http://reg.genome.network/allele/PA2580368469", "coordinates": [ { "allele": "T", "end": 2070, "referenceAllele": "C", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_014140.4:c.1810C>T" ], "proteinEffect": { "hgvs": "NP_054859.2:p.Gln604Ter", "hgvsWellDefined": "NP_054859.2:p.Gln604_Leu954delinsPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697187", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357276.9:c.1810C>T" }, "RefSeq": { "hgvs": "NM_014140.4:c.1810C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349823.4:p.Gln604Ter" }, "RefSeq": { "hgvs": "NP_054859.2:p.Gln604Ter" } } } } ], "type": "nucleotide" }