{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10585406", "communityStandardTitle": [ "NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=246103[alleleid]", "alleleId": 246103, "preferredName": "NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/251789", "RCV": [ "RCV000237680", "RCV001389976" ], "variationId": 251789 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.11224095G>A?assembly=hg19", "id": "chr19:g.11224095G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.11113419G>A?assembly=hg38", "id": "chr19:g.11113419G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/879254866", "rs": 879254866 } ], "gnomAD_4": [ { "@id": 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"coordinates": [ { "allele": "A", "end": 29039, "referenceAllele": "G", "start": 29038 } ], "hgvs": [ "NG_009060.1:g.29039G>A", "LRG_274:g.29039G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001402" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1602, "referenceAllele": "G", "start": 1601 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000252444.10:c.1586G>A" ], "proteinEffect": { "hgvs": "ENSP00000252444.6:p.Trp529Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS913948" }, { "coordinates": [ { "allele": "A", "end": 1459, "referenceAllele": "G", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000559340.2:c.1328G>A" ], "proteinEffect": { "hgvs": "ENSP00000453696.2:p.Trp443Ter", "hgvsWellDefined": "ENSP00000453696.2:p.Trp443_Gly596delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuGlyGlnSerIleLeuAspArgTyrHisGlnArgSerHisPheGlnCysGlnProProHisArgPheArgCysGlnLeuValGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914275" }, { "coordinates": [ { "allele": "A", "end": 1293, "referenceAllele": "G", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000560467.2:c.1208G>A" ], "proteinEffect": { "hgvs": "ENSP00000453513.2:p.Trp403Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914281" }, { "coordinates": [ { "allele": "A", "end": 1414, "referenceAllele": "G", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.6:c.1328G>A" ], "proteinEffect": { "hgvs": "ENSP00000454071.1:p.Trp443Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS760238", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000558518.6:c.1328G>A" }, "RefSeq": { "hgvs": "NM_000527.5:c.1328G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000454071.1:p.Trp443Ter" }, "RefSeq": { "hgvs": "NP_000518.1:p.Trp443Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1582, "referenceAllele": "G", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000252444.9:c.1582G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS247326" }, { "coordinates": [ { "allele": "A", "end": 910, "referenceAllele": "G", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000455727.6:c.824G>A" ], "proteinEffect": { "hgvs": "ENSP00000397829.2:p.Trp275Ter", "hgvsWellDefined": "ENSP00000397829.2:p.Trp275_Ala692delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247277" }, { "coordinates": [ { "allele": "A", "end": 1291, "referenceAllele": "G", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000535915.5:c.1205G>A" ], "proteinEffect": { "hgvs": "ENSP00000440520.1:p.Trp402Ter", "hgvsWellDefined": "ENSP00000440520.1:p.Trp402_Ala819delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246643" }, { "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "G", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000545707.5:c.947G>A" ], "proteinEffect": { "hgvs": "ENSP00000437639.1:p.Trp316Ter", "hgvsWellDefined": "ENSP00000437639.1:p.Trp316_Ala682delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247253" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "G", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000557933.5:c.1328G>A" ], "proteinEffect": { "hgvs": "ENSP00000453557.1:p.Trp443Ter", "hgvsWellDefined": "ENSP00000453557.1:p.Trp443_Ser948delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleAlaThrGluLeuGlyLeuTrpSerArgGlyGlnLeuCysAspArgAlaCysLeuSerLeuGlnCysSerSerSerSerPheAlaTrpGlySerSerPheTyrGlyArgThrGlyGlyLeuArgThrSerThrAlaSerThrLeuThrThrProSerIleArgArgProGlnArgMetArgSerThrPheAlaThrThrArgThrAlaThrAlaThrProArgAspArgTrpSerValTrpArgMetThrTrpArgGluHisLeuProGlyValProSerLeuProArgThrLeuProGluThrSerProAlaLeuPheTyrSerLysThrGluLysThrLysAlaLeuProAlaArgAlaLeuPheTyrIlePheIleHisLeuGlyGlyArgThrGlyPheGlyGlnCysProCysAsnGlyLeuGlyTrpAspPheGlyPhePheLeuSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247231" }, { "coordinates": [ { "allele": "A", "end": 1399, "referenceAllele": "G", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558013.5:c.1328G>A" ], "proteinEffect": { "hgvs": "ENSP00000453346.1:p.Trp443Ter", "hgvsWellDefined": "ENSP00000453346.1:p.Trp443_Ala858delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247327" }, { "coordinates": [ { "allele": "A", "end": 1515, "referenceAllele": "G", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.5:c.1328G>A" ], "proteinEffect": { "hgvs": "ENSP00000454071.1:p.Trp443Ter", "hgvsWellDefined": "ENSP00000454071.1:p.Trp443_Ala860delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246630" }, { "coordinates": [ { "allele": "A", "end": 49, "referenceAllele": "G", "start": 48 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000559340.1:c.49G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS374505" }, { "coordinates": [ { "allele": "A", "end": 327, "referenceAllele": "G", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000560173.1:n.327G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS375154" }, { "coordinates": [ { "allele": "A", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000560467.1:c.808G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS247257" }, { "@id": "http://reg.genome.network/allele/PA645378477", "coordinates": [ { "allele": "A", "end": 1515, "referenceAllele": "G", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.4:c.1328G>A", "LRG_274t1:c.1328G>A" ], "proteinEffect": { "hgvs": "NP_000518.1:p.Trp443Ter", "hgvsWellDefined": "NP_000518.1:p.Trp443_Ala860delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006584" }, { "@id": "http://reg.genome.network/allele/PA916000014", "coordinates": [ { "allele": "A", "end": 1515, "referenceAllele": "G", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.1:c.1328G>A" ], "proteinEffect": { "hgvs": "NP_001182727.1:p.Trp443Ter", "hgvsWellDefined": "NP_001182727.1:p.Trp443_Ala858delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016674" }, { "@id": "http://reg.genome.network/allele/PA2826213188", "coordinates": [ { "allele": "A", "end": 1392, "referenceAllele": "G", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.1:c.1205G>A" ], "proteinEffect": { "hgvs": "NP_001182728.1:p.Trp402Ter", "hgvsWellDefined": "NP_001182728.1:p.Trp402_Ala819delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016675" }, { "@id": "http://reg.genome.network/allele/PA2826214968", "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "G", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.1:c.824G>A" ], "proteinEffect": { "hgvs": "NP_001182729.1:p.Trp275Ter", "hgvsWellDefined": "NP_001182729.1:p.Trp275_Ala692delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016676" }, { "@id": "http://reg.genome.network/allele/PA2826216668", "coordinates": [ { "allele": "A", "end": 1134, "referenceAllele": "G", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.1:c.947G>A" ], "proteinEffect": { "hgvs": "NP_001182732.1:p.Trp316Ter", "hgvsWellDefined": "NP_001182732.1:p.Trp316_Ala682delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016677" }, { "coordinates": [ { "allele": "A", "end": 1478, "referenceAllele": "G", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.1:c.1328G>A" ], "proteinEffect": { "hgvs": "XP_011526312.1:p.Trp443Ter", "hgvsWellDefined": "XP_011526312.1:p.Trp443_Ala834delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095090" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "G", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528011.1:c.947G>A" ], "proteinEffect": { "hgvs": "XP_011526313.1:p.Trp316Ter", "hgvsWellDefined": "XP_011526313.1:p.Trp316_Ala733delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095091" }, { "coordinates": [ { "allele": "A", "end": 1478, "referenceAllele": "G", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_244074.2:n.1478G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116667" }, { "coordinates": [ { "allele": "A", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.2:c.1328G>A" ], "proteinEffect": { "hgvs": "XP_011526312.1:p.Trp443Ter", "hgvsWellDefined": "XP_011526312.1:p.Trp443_Ala834delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548934" }, { "coordinates": [ { "allele": "A", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753685.2:n.1445G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600154" }, { "coordinates": [ { "allele": "A", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753686.2:n.1445G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600155" }, { "@id": "http://reg.genome.network/allele/PA645378477", "coordinates": [ { "allele": "A", "end": 1414, "referenceAllele": "G", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.5:c.1328G>A" ], "proteinEffect": { "hgvs": "NP_000518.1:p.Trp443Ter", "hgvsWellDefined": "NP_000518.1:p.Trp443_Ala860delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674880", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000558518.6:c.1328G>A" }, "RefSeq": { "hgvs": "NM_000527.5:c.1328G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000454071.1:p.Trp443Ter" }, "RefSeq": { "hgvs": "NP_000518.1:p.Trp443Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916000014", "coordinates": [ { "allele": "A", "end": 1414, "referenceAllele": "G", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.2:c.1328G>A" ], "proteinEffect": { "hgvs": "NP_001182727.1:p.Trp443Ter", "hgvsWellDefined": "NP_001182727.1:p.Trp443_Ala858delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679343" }, { "@id": "http://reg.genome.network/allele/PA2826213188", "coordinates": [ { "allele": "A", "end": 1291, "referenceAllele": "G", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.2:c.1205G>A" ], "proteinEffect": { "hgvs": "NP_001182728.1:p.Trp402Ter", "hgvsWellDefined": "NP_001182728.1:p.Trp402_Ala819delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679344" }, { "@id": "http://reg.genome.network/allele/PA2826214968", "coordinates": [ { "allele": "A", "end": 910, "referenceAllele": "G", "start": 909 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.2:c.824G>A" ], "proteinEffect": { "hgvs": "NP_001182729.1:p.Trp275Ter", "hgvsWellDefined": "NP_001182729.1:p.Trp275_Ala692delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679345" }, { "@id": "http://reg.genome.network/allele/PA2826216668", "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "G", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.2:c.947G>A" ], "proteinEffect": { "hgvs": "NP_001182732.1:p.Trp316Ter", "hgvsWellDefined": "NP_001182732.1:p.Trp316_Ala682delinsSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679346" } ], "type": "nucleotide" }