{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10584746", "communityStandardTitle": [ "NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=245364[alleleid]", "alleleId": 245364, "preferredName": "NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/251009", "RCV": [ "RCV000237744", "RCV000775250", "RCV002429161" ], "variationId": 251009 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.11210912C>A?assembly=hg19", "id": "chr19:g.11210912C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.11100236C>A?assembly=hg38", "id": "chr19:g.11100236C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2228671", "rs": 2228671 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 11100236, "referenceAllele": "C", "start": 11100235 } ], "hgvs": [ "NC_000019.10:g.11100236C>A", "CM000681.2:g.11100236C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 11210912, "referenceAllele": "C", "start": 11210911 } ], "hgvs": [ "NC_000019.9:g.11210912C>A", "CM000681.1:g.11210912C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 11071912, "referenceAllele": "C", "start": 11071911 } ], "hgvs": [ "NC_000019.8:g.11071912C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 15856, "referenceAllele": "C", "start": 15855 } ], "hgvs": [ "NG_009060.1:g.15856C>A", "LRG_274:g.15856C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001402" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000252444.10:c.339C>A" ], "proteinEffect": { "hgvs": "ENSP00000252444.6:p.Cys113Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914275" }, { "coordinates": [ { "allele": "A", "end": 166, "referenceAllele": "C", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000560467.2:c.81C>A" ], "proteinEffect": { "hgvs": "ENSP00000453513.2:p.Cys27Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914281" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "C", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.6:c.81C>A" ], "proteinEffect": { "hgvs": "ENSP00000454071.1:p.Cys27Ter", "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.81C>A" }, "RefSeq": { "hgvs": "NM_000527.5:c.81C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000454071.1:p.Cys27Ter" }, "RefSeq": { "hgvs": "NP_000518.1:p.Cys27Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 335, "referenceAllele": "C", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000252444.9:c.335C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS247326" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "C", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000455727.6:c.81C>A" ], "proteinEffect": { "hgvs": "ENSP00000397829.2:p.Cys27Ter", "hgvsWellDefined": "ENSP00000397829.2:p.Cys27_Ala692delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysLeuThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247277" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "C", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000535915.5:c.81C>A" ], "proteinEffect": { "hgvs": "ENSP00000440520.1:p.Cys27Ter", "hgvsWellDefined": "ENSP00000440520.1:p.Cys27_Ala819delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysSerProLysThrCysSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246643" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "C", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000545707.5:c.81C>A" ], "proteinEffect": { "hgvs": "ENSP00000437639.1:p.Cys27Ter", "hgvsWellDefined": "ENSP00000437639.1:p.Cys27_Ala682delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysProValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247253" }, { "coordinates": [ { "allele": "A", "end": 168, "referenceAllele": "C", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000557933.5:c.81C>A" ], "proteinEffect": { "hgvs": "ENSP00000453557.1:p.Cys27Ter", "hgvsWellDefined": "ENSP00000453557.1:p.Cys27_Ser948delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysProProLysThrCysSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleAlaThrGluLeuGlyLeuTrpSerArgGlyGlnLeuCysAspArgAlaCysLeuSerLeuGlnCysSerSerSerSerPheAlaTrpGlySerSerPheTyrGlyArgThrGlyGlyLeuArgThrSerThrAlaSerThrLeuThrThrProSerIleArgArgProGlnArgMetArgSerThrPheAlaThrThrArgThrAlaThrAlaThrProArgAspArgTrpSerValTrpArgMetThrTrpArgGluHisLeuProGlyValProSerLeuProArgThrLeuProGluThrSerProAlaLeuPheTyrSerLysThrGluLysThrLysAlaLeuProAlaArgAlaLeuPheTyrIlePheIleHisLeuGlyGlyArgThrGlyPheGlyGlnCysProCysAsnGlyLeuGlyTrpAspPheGlyPhePheLeuSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247231" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "C", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000557958.1:n.167C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS373444" }, { "coordinates": [ { "allele": "A", "end": 152, "referenceAllele": "C", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558013.5:c.81C>A" ], "proteinEffect": { "hgvs": "ENSP00000453346.1:p.Cys27Ter", "hgvsWellDefined": "ENSP00000453346.1:p.Cys27_Ala858delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysProProLysThrCysSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247327" }, { "coordinates": [ { "allele": "A", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.5:c.81C>A" ], "proteinEffect": { "hgvs": "ENSP00000454071.1:p.Cys27Ter", "hgvsWellDefined": "ENSP00000454071.1:p.Cys27_Ala860delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysProProLysThrCysSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246630" }, { "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "C", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000560502.5:n.167C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS375392" }, { "@id": "http://reg.genome.network/allele/PA645375255", "coordinates": [ { "allele": "A", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.4:c.81C>A", "LRG_274t1:c.81C>A" ], "proteinEffect": { "hgvs": "NP_000518.1:p.Cys27Ter", "hgvsWellDefined": "NP_000518.1:p.Cys27_Ala860delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysProProLysThrCysSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006584" }, { "@id": "http://reg.genome.network/allele/PA2826211253", "coordinates": [ { "allele": "A", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.1:c.81C>A" ], "proteinEffect": { "hgvs": "NP_001182727.1:p.Cys27Ter", "hgvsWellDefined": "NP_001182727.1:p.Cys27_Ala858delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysProProLysThrCysSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016674" }, { "@id": "http://reg.genome.network/allele/PA2826212101", "coordinates": [ { "allele": "A", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.1:c.81C>A" ], "proteinEffect": { "hgvs": "NP_001182728.1:p.Cys27Ter", "hgvsWellDefined": "NP_001182728.1:p.Cys27_Ala819delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysSerProLysThrCysSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016675" }, { "@id": "http://reg.genome.network/allele/PA2826214222", "coordinates": [ { "allele": "A", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.1:c.81C>A" ], "proteinEffect": { "hgvs": "NP_001182729.1:p.Cys27Ter", "hgvsWellDefined": "NP_001182729.1:p.Cys27_Ala692delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysLeuThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016676" }, { "@id": "http://reg.genome.network/allele/PA916001649", "coordinates": [ { "allele": "A", "end": 268, "referenceAllele": "C", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.1:c.81C>A" ], "proteinEffect": { "hgvs": "NP_001182732.1:p.Cys27Ter", "hgvsWellDefined": "NP_001182732.1:p.Cys27_Ala682delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysProValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016677" }, { "coordinates": [ { "allele": "A", "end": 231, "referenceAllele": "C", "start": 230 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.1:c.81C>A" ], "proteinEffect": { "hgvs": "XP_011526312.1:p.Cys27Ter", "hgvsWellDefined": "XP_011526312.1:p.Cys27_Ala834delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysProProLysThrCysSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095090" }, { "coordinates": [ { "allele": "A", "end": 263, "referenceAllele": "C", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528011.1:c.81C>A" ], "proteinEffect": { "hgvs": "XP_011526313.1:p.Cys27Ter", "hgvsWellDefined": "XP_011526313.1:p.Cys27_Ala733delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysProValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095091" }, { "coordinates": [ { "allele": "A", "end": 231, "referenceAllele": "C", "start": 230 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_244074.2:n.231C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116667" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "C", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.2:c.81C>A" ], "proteinEffect": { "hgvs": "XP_011526312.1:p.Cys27Ter", "hgvsWellDefined": "XP_011526312.1:p.Cys27_Ala834delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysProProLysThrCysSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548934" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "C", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753685.2:n.198C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600154" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "C", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753686.2:n.198C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600155" }, { "@id": "http://reg.genome.network/allele/PA645375255", "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "C", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.5:c.81C>A" ], "proteinEffect": { "hgvs": "NP_000518.1:p.Cys27Ter", "hgvsWellDefined": "NP_000518.1:p.Cys27_Ala860delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysProProLysThrCysSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674880", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000558518.6:c.81C>A" }, "RefSeq": { "hgvs": "NM_000527.5:c.81C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000454071.1:p.Cys27Ter" }, "RefSeq": { "hgvs": "NP_000518.1:p.Cys27Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826211253", "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "C", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.2:c.81C>A" ], "proteinEffect": { "hgvs": "NP_001182727.1:p.Cys27Ter", "hgvsWellDefined": "NP_001182727.1:p.Cys27_Ala858delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysProProLysThrCysSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679343" }, { "@id": "http://reg.genome.network/allele/PA2826212101", "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "C", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.2:c.81C>A" ], "proteinEffect": { "hgvs": "NP_001182728.1:p.Cys27Ter", "hgvsWellDefined": "NP_001182728.1:p.Cys27_Ala819delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysSerProLysThrCysSerGlnAspGluPheArgCysHisAspGlyLysCysIleSerArgGlnPheValCysAspSerAspArgAspCysLeuAspGlySerAspGluAlaSerCysProValLeuThrCysGlyProAlaSerPheGlnCysAsnSerSerThrCysIleProGlnLeuTrpAlaCysAspAsnAspProAspCysGluAspGlySerAspGluTrpProGlnArgCysArgGlyLeuTyrValPheGlnGlyAspSerSerProCysSerAlaPheGluPheHisCysLeuSerGlyGluCysIleHisSerSerTrpArgCysAspGlyGlyProAspCysLysAspLysSerAspGluGluAsnCysAlaValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679344" }, { "@id": "http://reg.genome.network/allele/PA2826214222", "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "C", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.2:c.81C>A" ], "proteinEffect": { "hgvs": "NP_001182729.1:p.Cys27Ter", "hgvsWellDefined": "NP_001182729.1:p.Cys27_Ala692delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysLeuThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679345" }, { "@id": "http://reg.genome.network/allele/PA916001649", "coordinates": [ { "allele": "A", "end": 167, "referenceAllele": "C", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.2:c.81C>A" ], "proteinEffect": { "hgvs": "NP_001182732.1:p.Cys27Ter", "hgvsWellDefined": "NP_001182732.1:p.Cys27_Ala682delinsGluArgAsnGluPheGlnCysGlnAspGlyLysCysIleSerTyrLysTrpValCysAspGlySerAlaGluCysGlnAspGlySerAspGluSerGlnGluThrCysLeuSerValThrCysLysSerGlyAspPheSerCysGlyGlyArgValAsnArgCysIleProGlnPheTrpArgCysAspGlyGlnValAspCysAspAsnGlySerAspGluGlnGlyCysProValAlaThrCysArgProAspGluPheGlnCysSerAspGlyAsnCysIleHisGlySerArgGlnCysAspArgGluTyrAspCysLysAspMetSerAspGluValGlyCysValAsnValThrLeuCysGluGlyProAsnLysPheLysCysHisSerGlyGluCysIleThrLeuAspLysValCysAsnMetAlaArgAspCysArgAspTrpSerAspGluProIleLysGluCysGlyThrAsnGluCysLeuAspAsnAsnGlyGlyCysSerHisValCysAsnAspLeuLysIleGlyTyrGluCysLeuCysProAspGlyPheGlnLeuValAlaGlnArgArgCysGluAspIleAspGluCysGlnAspProAspThrCysSerGlnLeuCysValAsnLeuGluGlyGlyTyrLysCysGlnCysGluGluGlyPheGlnLeuAspProHisThrLysAlaCysLysAlaValGlySerIleAlaTyrLeuPhePheThrAsnArgHisGluValArgLysMetThrLeuAspArgSerGluTyrThrSerLeuIleProAsnLeuArgAsnValValAlaLeuAspThrGluValAlaSerAsnArgIleTyrTrpSerAspLeuSerGlnArgMetIleCysSerThrGlnLeuAspArgAlaHisGlyValSerSerTyrAspThrValIleSerArgAspIleGlnAlaProAspGlyLeuAlaValAspTrpIleHisSerAsnIleTyrTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679346" } ], "type": "nucleotide" }