{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10585144", "communityStandardTitle": [ "NM_000527.5(LDLR):c.810C>A (p.Cys270Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4887983", "active": true, "id": "COSM4887983" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=245801[alleleid]", "alleleId": 245801, "preferredName": "NM_000527.5(LDLR):c.810C>A (p.Cys270Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/251465", "RCV": [ "RCV000238441", "RCV001854891" ], "variationId": 251465 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.11217356C>A?assembly=hg19", "id": "chr19:g.11217356C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.11106680C>A?assembly=hg38", "id": "chr19:g.11106680C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/773328511", "rs": 773328511 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-11106680-C-A?dataset=gnomad_r4", "id": "19-11106680-C-A", "variant": "19:11106680 C / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 11106680, "referenceAllele": "C", "start": 11106679 } ], "hgvs": [ "NC_000019.10:g.11106680C>A", "CM000681.2:g.11106680C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 11217356, "referenceAllele": "C", "start": 11217355 } ], "hgvs": [ "NC_000019.9:g.11217356C>A", "CM000681.1:g.11217356C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 11078356, "referenceAllele": "C", "start": 11078355 } ], "hgvs": [ "NC_000019.8:g.11078356C>A" ], 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}, "referenceSequence": "http://reg.genome.network/refseq/RS913948" }, { "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "C", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000559340.2:c.810C>A" ], "proteinEffect": { "hgvs": "ENSP00000453696.2:p.Cys270Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914275" }, { "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000560467.2:c.810C>A" ], "proteinEffect": { "hgvs": "ENSP00000453513.2:p.Cys270Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914281" }, { "coordinates": [ { "allele": "A", "end": 896, "referenceAllele": "C", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.6:c.810C>A" ], "proteinEffect": { "hgvs": "ENSP00000454071.1:p.Cys270Ter", "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.810C>A" }, "RefSeq": { "hgvs": "NM_000527.5:c.810C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000454071.1:p.Cys270Ter" }, "RefSeq": { "hgvs": "NP_000518.1:p.Cys270Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1064, "referenceAllele": "C", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000252444.9:c.1064C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS247326" }, { "coordinates": [ { "allele": "A", "end": 399, "endIntronDirection": "-", "endIntronOffset": 711, "referenceAllele": "C", "start": 399, "startIntronDirection": "-", "startIntronOffset": 712 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000455727.6:c.314-712C>A" ], "proteinEffect": { "hgvs": "ENSP00000397829.2:n.314-712C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247277" }, { "coordinates": [ { "allele": "A", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000535915.5:c.687C>A" ], "proteinEffect": { "hgvs": "ENSP00000440520.1:p.Cys229Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS246643" }, { "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000545707.5:c.429C>A" ], "proteinEffect": { "hgvs": "ENSP00000437639.1:p.Cys143Ter", "hgvsWellDefined": "ENSP00000437639.1:p.Cys143_Ala682delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247253" }, { "coordinates": [ { "allele": "A", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000557933.5:c.810C>A" ], "proteinEffect": { "hgvs": "ENSP00000453557.1:p.Cys270Ter", "hgvsWellDefined": "ENSP00000453557.1:p.Cys270_Ser948delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleAlaThrGluLeuGlyLeuTrpSerArgGlyGlnLeuCysAspArgAlaCysLeuSerLeuGlnCysSerSerSerSerPheAlaTrpGlySerSerPheTyrGlyArgThrGlyGlyLeuArgThrSerThrAlaSerThrLeuThrThrProSerIleArgArgProGlnArgMetArgSerThrPheAlaThrThrArgThrAlaThrAlaThrProArgAspArgTrpSerValTrpArgMetThrTrpArgGluHisLeuProGlyValProSerLeuProArgThrLeuProGluThrSerProAlaLeuPheTyrSerLysThrGluLysThrLysAlaLeuProAlaArgAlaLeuPheTyrIlePheIleHisLeuGlyGlyArgThrGlyPheGlyGlnCysProCysAsnGlyLeuGlyTrpAspPheGlyPhePheLeuSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247231" }, { "coordinates": [ { "allele": "A", "end": 881, "referenceAllele": "C", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558013.5:c.810C>A" ], "proteinEffect": { "hgvs": "ENSP00000453346.1:p.Cys270Ter", "hgvsWellDefined": "ENSP00000453346.1:p.Cys270_Ala858delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247327" }, { "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "C", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.5:c.810C>A" ], "proteinEffect": { "hgvs": "ENSP00000454071.1:p.Cys270Ter", "hgvsWellDefined": "ENSP00000454071.1:p.Cys270_Ala860delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246630" }, { "coordinates": [ { "allele": "A", "end": 325, "referenceAllele": "C", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558528.1:n.325C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS373868" }, { "coordinates": [ { "allele": "A", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000560467.1:c.410C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS247257" }, { "@id": "http://reg.genome.network/allele/PA645377263", "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "C", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.4:c.810C>A", "LRG_274t1:c.810C>A" ], "proteinEffect": { "hgvs": "NP_000518.1:p.Cys270Ter", "hgvsWellDefined": "NP_000518.1:p.Cys270_Ala860delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006584" }, { "@id": "http://reg.genome.network/allele/PA915999056", "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "C", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.1:c.810C>A" ], "proteinEffect": { "hgvs": "NP_001182727.1:p.Cys270Ter", "hgvsWellDefined": "NP_001182727.1:p.Cys270_Ala858delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016674" }, { "@id": "http://reg.genome.network/allele/PA2826212640", "coordinates": [ { "allele": "A", "end": 874, "referenceAllele": "C", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.1:c.687C>A" ], "proteinEffect": { "hgvs": "NP_001182728.1:p.Cys229Ter", "hgvsWellDefined": "NP_001182728.1:p.Cys229_Ala819delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016675" }, { "coordinates": [ { "allele": "A", "end": 500, "endIntronDirection": "-", "endIntronOffset": 711, "referenceAllele": "C", "start": 500, "startIntronDirection": "-", "startIntronOffset": 712 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.1:c.314-712C>A" ], "proteinEffect": { "hgvs": "NP_001182729.1:n.314-712C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS016676" }, { "@id": "http://reg.genome.network/allele/PA2826216123", "coordinates": [ { "allele": "A", "end": 616, "referenceAllele": "C", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.1:c.429C>A" ], "proteinEffect": { "hgvs": "NP_001182732.1:p.Cys143Ter", "hgvsWellDefined": "NP_001182732.1:p.Cys143_Ala682delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016677" }, { "coordinates": [ { "allele": "A", "end": 960, "referenceAllele": "C", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.1:c.810C>A" ], "proteinEffect": { "hgvs": "XP_011526312.1:p.Cys270Ter", "hgvsWellDefined": "XP_011526312.1:p.Cys270_Ala834delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095090" }, { "coordinates": [ { "allele": "A", "end": 611, "referenceAllele": "C", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528011.1:c.429C>A" ], "proteinEffect": { "hgvs": "XP_011526313.1:p.Cys143Ter", "hgvsWellDefined": "XP_011526313.1:p.Cys143_Ala733delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095091" }, { "coordinates": [ { "allele": "A", "end": 960, "referenceAllele": "C", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_244074.2:n.960C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116667" }, { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.2:c.810C>A" ], "proteinEffect": { "hgvs": "XP_011526312.1:p.Cys270Ter", "hgvsWellDefined": "XP_011526312.1:p.Cys270_Ala834delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548934" }, { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753685.2:n.927C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600154" }, { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753686.2:n.927C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600155" }, { "@id": "http://reg.genome.network/allele/PA645377263", "coordinates": [ { "allele": "A", "end": 896, "referenceAllele": "C", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.5:c.810C>A" ], "proteinEffect": { "hgvs": "NP_000518.1:p.Cys270Ter", "hgvsWellDefined": "NP_000518.1:p.Cys270_Ala860delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674880", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000558518.6:c.810C>A" }, "RefSeq": { "hgvs": "NM_000527.5:c.810C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000454071.1:p.Cys270Ter" }, "RefSeq": { "hgvs": "NP_000518.1:p.Cys270Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915999056", "coordinates": [ { "allele": "A", "end": 896, "referenceAllele": "C", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.2:c.810C>A" ], "proteinEffect": { "hgvs": "NP_001182727.1:p.Cys270Ter", "hgvsWellDefined": "NP_001182727.1:p.Cys270_Ala858delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679343" }, { "@id": "http://reg.genome.network/allele/PA2826212640", "coordinates": [ { "allele": "A", "end": 773, "referenceAllele": "C", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.2:c.687C>A" ], "proteinEffect": { "hgvs": "NP_001182728.1:p.Cys229Ter", "hgvsWellDefined": "NP_001182728.1:p.Cys229_Ala819delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679344" }, { "coordinates": [ { "allele": "A", "end": 399, "endIntronDirection": "-", "endIntronOffset": 711, "referenceAllele": "C", "start": 399, "startIntronDirection": "-", "startIntronOffset": 712 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.2:c.314-712C>A" ], "proteinEffect": { "hgvs": "NP_001182729.1:n.314-712C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS679345" }, { "@id": "http://reg.genome.network/allele/PA2826216123", "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.2:c.429C>A" ], "proteinEffect": { "hgvs": "NP_001182732.1:p.Cys143Ter", "hgvsWellDefined": "NP_001182732.1:p.Cys143_Ala682delinsValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679346" } ], "type": "nucleotide" }