{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA350497252", "communityStandardTitle": [ "NM_014140.4(SMARCAL1):c.416T>A (p.Leu139Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1510084[alleleid]", "alleleId": 1510084, "preferredName": "NM_014140.4(SMARCAL1):c.416T>A (p.Leu139Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1410646", "RCV": [ "RCV001928145" ], "variationId": 1410646 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.217279843T>A?assembly=hg19", "id": "chr2:g.217279843T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.216415120T>A?assembly=hg38", "id": "chr2:g.216415120T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2106014776", "rs": 2106014776 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 216415120, "referenceAllele": "T", "start": 216415119 } ], "hgvs": [ "NC_000002.12:g.216415120T>A", "CM000664.2:g.216415120T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 217279843, "referenceAllele": "T", "start": 217279842 } ], "hgvs": [ "NC_000002.11:g.217279843T>A", "CM000664.1:g.217279843T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 216988088, "referenceAllele": "T", "start": 216988087 } ], "hgvs": [ "NC_000002.10:g.216988088T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 7707, "referenceAllele": "T", "start": 7706 } ], "hgvs": [ "NG_009771.1:g.7707T>A", "LRG_108:g.7707T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001631" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 668, "referenceAllele": "T", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000425815.6:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000394410.2:p.Leu139Ter", "hgvsWellDefined": "ENSP00000394410.2:p.Leu139_Leu954delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904799" }, { "coordinates": [ { "allele": "A", "end": 701, "referenceAllele": "T", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000430374.6:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000405077.2:p.Leu139Ter", "hgvsWellDefined": "ENSP00000405077.2:p.Leu139_Leu954delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904832" }, { "coordinates": [ { "allele": "A", "end": 736, "referenceAllele": "T", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000444508.6:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000398969.2:p.Leu139Ter", "hgvsWellDefined": "ENSP00000398969.2:p.Leu139_Leu954delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904940" }, { "coordinates": [ { "allele": "A", "end": 777, "referenceAllele": "T", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697898.1:n.777T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS909056" }, { "coordinates": [ { "allele": "A", "end": 701, "referenceAllele": "T", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697899.1:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000513470.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000513470.1:p.Leu139_Leu876delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuAsnValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909057" }, { "coordinates": [ { "allele": "A", "end": 692, "referenceAllele": "T", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697900.1:n.692T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS909058" }, { "coordinates": [ { "allele": "A", "end": 650, "referenceAllele": "T", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697901.1:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000513471.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000513471.1:p.Leu139_Gln381delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrGlyLysCysGlnAspGlnGluValGluLeuSerLeuGlyArgAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909059" }, { "coordinates": [ { "allele": "A", "end": 648, "referenceAllele": "T", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697902.1:n.648T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS909060" }, { "coordinates": [ { "allele": "A", "end": 648, "referenceAllele": "T", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697903.1:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000513472.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000513472.1:p.Leu139_Leu453delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValLysProSerPheGlyGlyCysHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909061" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "T", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697904.1:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000513473.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000513473.1:p.Leu139_Leu453delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValLysProSerPheGlyGlyCysHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909062" }, { "coordinates": [ { "allele": "A", "end": 612, "referenceAllele": "T", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697905.1:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000513474.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000513474.1:p.Leu139_Leu453delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValLysProSerPheGlyGlyCysHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909063" }, { "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "T", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697906.1:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000513475.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000513475.1:p.Leu139_Leu876delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuAsnValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909064" }, { "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "T", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000697907.1:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000513476.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000513476.1:p.Leu139_Gln381delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrGlyLysCysGlnAspGlnGluValGluLeuSerLeuGlyArgAlaGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909065" }, { "coordinates": [ { "allele": "A", "end": 676, "referenceAllele": "T", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000357276.9:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000349823.4:p.Leu139Ter", "hgvsWellDefined": "ENSP00000349823.4:p.Leu139_Leu954delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748922", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357276.9:c.416T>A" }, "RefSeq": { "hgvs": "NM_014140.4:c.416T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349823.4:p.Leu139Ter" }, "RefSeq": { "hgvs": "NP_054859.2:p.Leu139Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "T", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000357276.8:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000349823.4:p.Leu139Ter", "hgvsWellDefined": "ENSP00000349823.4:p.Leu139_Leu954delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264043" }, { "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "T", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000358207.9:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000350940.5:p.Leu139Ter", "hgvsWellDefined": "ENSP00000350940.5:p.Leu139_Leu954delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264375" }, { "coordinates": [ { "allele": "A", "end": 8, "referenceAllele": "T", "start": 7 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000392128.6:c.8T>A" ], "proteinEffect": { "hgvs": "ENSP00000375974.2:p.Leu3Ter", "hgvsWellDefined": "ENSP00000375974.2:p.Leu3_Leu796delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274936" }, { "coordinates": [ { "allele": "A", "end": 113, "referenceAllele": "T", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000427645.5:c.113T>A" ], "proteinEffect": { "hgvs": "ENSP00000392997.1:p.Leu38Ter", "hgvsWellDefined": "ENSP00000392997.1:p.Leu38_Val326del" }, "referenceSequence": "http://reg.genome.network/refseq/RS289800" }, { "coordinates": [ { "allele": "A", "end": 701, "referenceAllele": "T", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "ENST00000430374.5:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000405077.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000405077.1:p.Leu139_Gly146del" }, "referenceSequence": "http://reg.genome.network/refseq/RS291115" }, { "@id": "http://reg.genome.network/allele/PA2825629505", "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "T", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_001127207.1:c.416T>A" ], "proteinEffect": { "hgvs": "NP_001120679.1:p.Leu139Ter", "hgvsWellDefined": "NP_001120679.1:p.Leu139_Leu954delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011543" }, { "@id": "http://reg.genome.network/allele/PA2573258166", "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "T", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_014140.3:c.416T>A", "LRG_108t1:c.416T>A" ], "proteinEffect": { "hgvs": "NP_054859.2:p.Leu139Ter", "hgvsWellDefined": "NP_054859.2:p.Leu139_Leu954delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032934" }, { "coordinates": [ { "allele": "A", "end": 684, "referenceAllele": "T", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246631.2:c.416T>A" ], "proteinEffect": { "hgvs": "XP_005246688.1:p.Leu139Ter", "hgvsWellDefined": "XP_005246688.1:p.Leu139_Leu954delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057716" }, { "coordinates": [ { "allele": "A", "end": 736, "referenceAllele": "T", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246632.1:c.416T>A" ], "proteinEffect": { "hgvs": "XP_005246689.1:p.Leu139Ter", "hgvsWellDefined": "XP_005246689.1:p.Leu139_Leu954delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057717" }, { "coordinates": [ { "allele": "A", "end": 729, "referenceAllele": "T", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_006712557.1:c.416T>A" ], "proteinEffect": { "hgvs": "XP_006712620.1:p.Leu139Ter", "hgvsWellDefined": "XP_006712620.1:p.Leu139_Leu932delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069710" }, { "coordinates": [ { "allele": "A", "end": 677, "referenceAllele": "T", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_005246632.2:c.416T>A" ], "proteinEffect": { "hgvs": "XP_005246689.1:p.Leu139Ter", "hgvsWellDefined": "XP_005246689.1:p.Leu139_Leu954delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532654" }, { "coordinates": [ { "allele": "A", "end": 534, "referenceAllele": "T", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "XM_017004228.2:c.-501T>A" ], "proteinEffect": { "hgvs": "XP_016859717.1:n.-501T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS559780" }, { "@id": "http://reg.genome.network/allele/PA2825629505", "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "T", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_001127207.2:c.416T>A" ], "proteinEffect": { "hgvs": "NP_001120679.1:p.Leu139Ter", "hgvsWellDefined": "NP_001120679.1:p.Leu139_Leu954delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676852" }, { "@id": "http://reg.genome.network/allele/PA2573258166", "coordinates": [ { "allele": "A", "end": 676, "referenceAllele": "T", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN011102", "geneNCBI_id": 50485, "geneSymbol": "SMARCAL1", "hgvs": [ "NM_014140.4:c.416T>A" ], "proteinEffect": { "hgvs": "NP_054859.2:p.Leu139Ter", "hgvsWellDefined": "NP_054859.2:p.Leu139_Leu954delinsSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697187", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357276.9:c.416T>A" }, "RefSeq": { "hgvs": "NM_014140.4:c.416T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349823.4:p.Leu139Ter" }, "RefSeq": { "hgvs": "NP_054859.2:p.Leu139Ter" } } } } ], "type": "nucleotide" }