{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16617001", "communityStandardTitle": [ "NM_170707.4(LMNA):c.1078C>T (p.Gln360Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=404950[alleleid]", "alleleId": 404950, "preferredName": "NM_170707.4(LMNA):c.1078C>T (p.Gln360Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/423883", "RCV": [ "RCV000481311" ], "variationId": 423883 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.156105833C>T?assembly=hg19", "id": "chr1:g.156105833C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.156136042C>T?assembly=hg38", "id": "chr1:g.156136042C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796677", "rs": 1064796677 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 156136042, "referenceAllele": "C", "start": 156136041 } ], "hgvs": [ "NC_000001.11:g.156136042C>T", "CM000663.2:g.156136042C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 156105833, "referenceAllele": "C", "start": 156105832 } ], "hgvs": [ "NC_000001.10:g.156105833C>T", "CM000663.1:g.156105833C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 154372457, "referenceAllele": "C", "start": 154372456 } ], "hgvs": [ "NC_000001.9:g.154372457C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 58470, "referenceAllele": "C", "start": 58469 } ], "hgvs": [ "NG_008692.2:g.58470C>T", "LRG_254:g.58470C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001170" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000504687.7:c.520C>T" ], "proteinEffect": { "hgvs": "ENSP00000426535.3:p.Gln174Ter", "hgvsWellDefined": "ENSP00000426535.3:p.Gln174_Met478delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914182" }, { "coordinates": [ { "allele": "T", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000498722.3:n.310C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825488" }, { "coordinates": [ { "allele": "T", "end": 1292, "referenceAllele": "C", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000682650.1:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000506904.1:p.Gln360Ter", "hgvsWellDefined": "ENSP00000506904.1:p.Gln360_Met634delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827639" }, { "coordinates": [ { "allele": "T", "end": 1293, "referenceAllele": "C", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000683032.1:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000506771.1:p.Gln360Ter", "hgvsWellDefined": "ENSP00000506771.1:p.Gln360_Met664delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828019" }, { "coordinates": [ { "allele": "T", "end": 1293, "referenceAllele": "C", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000684195.1:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000508220.1:p.Gln360Ter", "hgvsWellDefined": "ENSP00000508220.1:p.Gln360_Gly540delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgSerGlyHisAlaGlnAlaGlyAlaLeuSerAspCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829153" }, { "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "C", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000361308.9:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000355292.6:p.Gln360Ter", "hgvsWellDefined": "ENSP00000355292.6:p.Gln360_Met664delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749441" }, { "coordinates": [ { "allele": "T", "end": 1286, "referenceAllele": "C", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368300.9:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000357283.4:p.Gln360Ter", "hgvsWellDefined": "ENSP00000357283.4:p.Gln360_Met664delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750181", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368300.9:c.1078C>T" }, "RefSeq": { "hgvs": "NM_170707.4:c.1078C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357283.4:p.Gln360Ter" }, "RefSeq": { "hgvs": "NP_733821.1:p.Gln360Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000496738.6:n.1453C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757845" }, { "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "C", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674518.1:c.*428C>T" ], "proteinEffect": { "hgvs": "ENSP00000502261.1:n.*428C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774474" }, { "coordinates": [ { "allele": "T", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674600.1:c.*877C>T" ], "proteinEffect": { "hgvs": "ENSP00000501666.1:n.*877C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774544" }, { "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000674720.1:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000502798.1:p.Gln360Ter", "hgvsWellDefined": "ENSP00000502798.1:p.Gln360_Cys516delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluValGlySerCysSerGlySerLysGlyIleGlnLeuHisGlnGlyGluSerGlyLysThrGluGlyTrpHisValGluArgGlyThrSerLeuProSerGluGlyGlyProGlyThrSerProTrpAlaIleGlyArgSerSerAlaArgMetGluMetIleProCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774644" }, { "coordinates": [ { "allele": "T", "end": 771, "referenceAllele": "C", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675431.1:n.771C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775256" }, { "coordinates": [ { "allele": "T", "end": 1197, "referenceAllele": "C", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675455.1:c.*878C>T" ], "proteinEffect": { "hgvs": "ENSP00000501795.1:n.*878C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775275" }, { "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675667.1:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000501803.1:p.Gln360Ter", "hgvsWellDefined": "ENSP00000501803.1:p.Gln360_Val729delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnValSerCysLeuCysPheValSerLysSerCysArgArgValProGlyHisArgGlyValGlyArgGlyGlyLeuAlaGlyGlyArgAlaCysLeuLeuPheArgSerProGlyGluTrpGluProProProHisSerLeuSerProArgGlnProThrSerAlaSerCysProSerCysLeuSerProArgLeuGluGlyArgGlyArgAlaGlyValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775456" }, { "coordinates": [ { "allele": "T", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675874.1:c.*549C>T" ], "proteinEffect": { "hgvs": "ENSP00000501851.1:n.*549C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775638" }, { "coordinates": [ { "allele": "T", "end": 1326, "referenceAllele": "C", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675881.1:c.*89C>T" ], "proteinEffect": { "hgvs": "ENSP00000501670.1:n.*89C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775644" }, { "coordinates": [ { "allele": "T", "end": 1297, "referenceAllele": "C", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675939.1:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000502256.1:p.Gln360Ter", "hgvsWellDefined": "ENSP00000502256.1:p.Gln360_Met664delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775693" }, { "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000675989.1:n.1453C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775733" }, { "coordinates": [ { "allele": "T", "end": 1336, "referenceAllele": "C", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676208.1:c.*89C>T" ], "proteinEffect": { "hgvs": "ENSP00000502468.1:n.*89C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775924" }, { "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676283.1:n.1453C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775987" }, { "coordinates": [ { "allele": "T", "end": 1919, "referenceAllele": "C", "start": 1918 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676385.2:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000502091.1:p.Gln360Ter", "hgvsWellDefined": "ENSP00000502091.1:p.Gln360_Met634delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776075" }, { "coordinates": [ { "allele": "T", "end": 1336, "referenceAllele": "C", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000676434.1:c.*89C>T" ], "proteinEffect": { "hgvs": "ENSP00000501648.1:n.*89C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776116" }, { "coordinates": [ { "allele": "T", "end": 1286, "referenceAllele": "C", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000677389.1:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000503633.1:p.Gln360Ter", "hgvsWellDefined": "ENSP00000503633.1:p.Gln360_Arg572delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS777051", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677389.1:c.1078C>T" }, "RefSeq": { "hgvs": "NM_005572.4:c.1078C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503633.1:p.Gln360Ter" }, "RefSeq": { "hgvs": "NP_005563.1:p.Gln360Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000347559.6:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000292304.3:p.Gln360Ter", "hgvsWellDefined": "ENSP00000292304.3:p.Gln360_Met634delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247316" }, { "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000361308.8:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000355292.5:p.Gln360Ter", "hgvsWellDefined": "ENSP00000355292.5:p.Gln360_Arg487delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247226" }, { "coordinates": [ { "allele": "T", "end": 937, "referenceAllele": "C", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368297.5:c.835C>T" ], "proteinEffect": { "hgvs": "ENSP00000357280.1:p.Gln279Ter", "hgvsWellDefined": "ENSP00000357280.1:p.Gln279_Arg491delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247394" }, { "coordinates": [ { "allele": "T", "end": 342, "referenceAllele": "C", "start": 341 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368298.2:n.342C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS266891" }, { "coordinates": [ { "allele": "T", "end": 1275, "referenceAllele": "C", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368299.7:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000357282.3:p.Gln360Ter", "hgvsWellDefined": "ENSP00000357282.3:p.Gln360_Met614delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247280" }, { "coordinates": [ { "allele": "T", "end": 1290, "referenceAllele": "C", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368300.8:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000357283.4:p.Gln360Ter", "hgvsWellDefined": "ENSP00000357283.4:p.Gln360_Met664delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247209" }, { "coordinates": [ { "allele": "T", "end": 1719, "referenceAllele": "C", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000368301.6:c.1078C>T" ], "proteinEffect": { "hgvs": "ENSP00000357284.2:p.Gln360Ter", "hgvsWellDefined": "ENSP00000357284.2:p.Gln360_Arg572delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246645" }, { "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "C", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000448611.6:c.742C>T" ], "proteinEffect": { "hgvs": "ENSP00000395597.2:p.Gln248Ter", "hgvsWellDefined": "ENSP00000395597.2:p.Gln248_Pro574delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleIleGlnGluMetGlyMetArgTrpGluValGluGluGlyArgArgLysValSerLeuSerCysLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247357" }, { "coordinates": [ { "allele": "T", "end": 901, "referenceAllele": "C", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000473598.6:c.781C>T" ], "proteinEffect": { "hgvs": "ENSP00000421821.1:p.Gln261Ter", "hgvsWellDefined": "ENSP00000421821.1:p.Gln261_Met565delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247207" }, { "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000496738.5:n.463C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS333133" }, { "coordinates": [ { "allele": "T", "end": 310, "referenceAllele": "C", "start": 309 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "ENST00000498722.2:n.310C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS334667" }, { "@id": "http://reg.genome.network/allele/PA2826443389", "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001257374.2:c.742C>T" ], "proteinEffect": { "hgvs": "NP_001244303.1:p.Gln248Ter", "hgvsWellDefined": "NP_001244303.1:p.Gln248_Pro574delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleIleGlnGluMetGlyMetArgTrpGluValGluGluGlyArgArgLysValSerLeuSerCysLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019616" }, { "@id": "http://reg.genome.network/allele/PA2826657802", "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282624.1:c.835C>T" ], "proteinEffect": { "hgvs": "NP_001269553.1:p.Gln279Ter", "hgvsWellDefined": "NP_001269553.1:p.Gln279_Arg491delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022104" }, { "@id": "http://reg.genome.network/allele/PA2826659063", "coordinates": [ { "allele": "T", "end": 1751, "referenceAllele": "C", "start": 1750 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282625.1:c.1078C>T" ], "proteinEffect": { "hgvs": "NP_001269554.1:p.Gln360Ter", "hgvsWellDefined": "NP_001269554.1:p.Gln360_Arg572delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022105" }, { "@id": "http://reg.genome.network/allele/PA2826660322", "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282626.1:c.1078C>T" ], "proteinEffect": { "hgvs": "NP_001269555.1:p.Gln360Ter", "hgvsWellDefined": "NP_001269555.1:p.Gln360_Met614delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022106" }, { "@id": "http://reg.genome.network/allele/PA2829603580", "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_005572.3:c.1078C>T", "LRG_254t1:c.1078C>T" ], "proteinEffect": { "hgvs": "NP_005563.1:p.Gln360Ter", "hgvsWellDefined": "NP_005563.1:p.Gln360_Arg572delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030662" }, { "@id": "http://reg.genome.network/allele/PA2830327327", "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170707.3:c.1078C>T" ], "proteinEffect": { "hgvs": "NP_733821.1:p.Gln360Ter", "hgvsWellDefined": "NP_733821.1:p.Gln360_Met664delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042563" }, { "@id": "http://reg.genome.network/allele/PA645457769", "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170708.3:c.1078C>T" ], "proteinEffect": { "hgvs": "NP_733822.1:p.Gln360Ter", "hgvsWellDefined": "NP_733822.1:p.Gln360_Met634delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042564" }, { "coordinates": [ { "allele": "T", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509533.1:c.742C>T" ], "proteinEffect": { "hgvs": "XP_011507835.1:p.Gln248Ter", "hgvsWellDefined": "XP_011507835.1:p.Gln248_Met552delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076800" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "C", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509534.1:c.454C>T" ], "proteinEffect": { "hgvs": "XP_011507836.1:p.Gln152Ter", "hgvsWellDefined": "XP_011507836.1:p.Gln152_Met456delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076801" }, { "coordinates": [ { "allele": "T", "end": 1367, "referenceAllele": "C", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XR_921781.1:n.1367C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118967" }, { "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XM_011509534.2:c.454C>T" ], "proteinEffect": { "hgvs": "XP_011507836.1:p.Gln152Ter", "hgvsWellDefined": "XP_011507836.1:p.Gln152_Met456delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541310" }, { "coordinates": [ { "allele": "T", "end": 1365, "referenceAllele": "C", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "XR_921781.2:n.1365C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606864" }, { "@id": "http://reg.genome.network/allele/PA2830327327", "coordinates": [ { "allele": "T", "end": 1286, "referenceAllele": "C", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170707.4:c.1078C>T" ], "proteinEffect": { "hgvs": "NP_733821.1:p.Gln360Ter", "hgvsWellDefined": "NP_733821.1:p.Gln360_Met664delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672588", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368300.9:c.1078C>T" }, "RefSeq": { "hgvs": "NM_170707.4:c.1078C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357283.4:p.Gln360Ter" }, "RefSeq": { "hgvs": "NP_733821.1:p.Gln360Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826443389", "coordinates": [ { "allele": "T", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001257374.3:c.742C>T" ], "proteinEffect": { "hgvs": "NP_001244303.1:p.Gln248Ter", "hgvsWellDefined": "NP_001244303.1:p.Gln248_Pro574delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleIleGlnGluMetGlyMetArgTrpGluValGluGluGlyArgArgLysValSerLeuSerCysLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680726" }, { "@id": "http://reg.genome.network/allele/PA2826660322", "coordinates": [ { "allele": "T", "end": 1286, "referenceAllele": "C", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282626.2:c.1078C>T" ], "proteinEffect": { "hgvs": "NP_001269555.1:p.Gln360Ter", "hgvsWellDefined": "NP_001269555.1:p.Gln360_Met614delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681840" }, { "@id": "http://reg.genome.network/allele/PA2826657802", "coordinates": [ { "allele": "T", "end": 956, "referenceAllele": "C", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282624.2:c.835C>T" ], "proteinEffect": { "hgvs": "NP_001269553.1:p.Gln279Ter", "hgvsWellDefined": "NP_001269553.1:p.Gln279_Arg491delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715878" }, { "@id": "http://reg.genome.network/allele/PA2826659063", "coordinates": [ { "allele": "T", "end": 1724, "referenceAllele": "C", "start": 1723 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_001282625.2:c.1078C>T" ], "proteinEffect": { "hgvs": "NP_001269554.1:p.Gln360Ter", "hgvsWellDefined": "NP_001269554.1:p.Gln360_Arg572delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715879" }, { "@id": "http://reg.genome.network/allele/PA2829603580", "coordinates": [ { "allele": "T", "end": 1286, "referenceAllele": "C", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_005572.4:c.1078C>T" ], "proteinEffect": { "hgvs": "NP_005563.1:p.Gln360Ter", "hgvsWellDefined": "NP_005563.1:p.Gln360_Arg572delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727649", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677389.1:c.1078C>T" }, "RefSeq": { "hgvs": "NM_005572.4:c.1078C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000503633.1:p.Gln360Ter" }, "RefSeq": { "hgvs": "NP_005563.1:p.Gln360Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA645457769", "coordinates": [ { "allele": "T", "end": 1286, "referenceAllele": "C", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN006636", "geneNCBI_id": 4000, "geneSymbol": "LMNA", "hgvs": [ "NM_170708.4:c.1078C>T" ], "proteinEffect": { "hgvs": "NP_733822.1:p.Gln360Ter", "hgvsWellDefined": "NP_733822.1:p.Gln360_Met634delinsGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729502" } ], "type": "nucleotide" }