{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA404086227", "communityStandardTitle": [ "NM_000527.5(LDLR):c.1467C>A (p.Tyr489Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=434298[alleleid]", "alleleId": 434298, "preferredName": "NM_000527.5(LDLR):c.1467C>A (p.Tyr489Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/440647", "RCV": [ "RCV000508795" ], "variationId": 440647 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.11224319C>A?assembly=hg19", "id": "chr19:g.11224319C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.11113643C>A?assembly=hg38", "id": "chr19:g.11113643C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/370777955", "rs": 370777955 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 11113643, "referenceAllele": "C", "start": 11113642 } ], "hgvs": [ "NC_000019.10:g.11113643C>A", "CM000681.2:g.11113643C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 11224319, "referenceAllele": "C", "start": 11224318 } ], "hgvs": [ "NC_000019.9:g.11224319C>A", "CM000681.1:g.11224319C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 11085319, "referenceAllele": "C", "start": 11085318 } ], "hgvs": [ "NC_000019.8:g.11085319C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 29263, "referenceAllele": "C", "start": 29262 } ], "hgvs": [ "NG_009060.1:g.29263C>A", "LRG_274:g.29263C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001402" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1741, "referenceAllele": "C", "start": 1740 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000252444.10:c.1725C>A" ], "proteinEffect": { "hgvs": "ENSP00000252444.6:p.Tyr575Ter", "hgvsWellDefined": "ENSP00000252444.6:p.Tyr575_Ala946delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS913948" }, { "coordinates": [ { "allele": "A", "end": 1598, "referenceAllele": "C", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000559340.2:c.1467C>A" ], "proteinEffect": { "hgvs": "ENSP00000453696.2:p.Tyr489Ter", "hgvsWellDefined": "ENSP00000453696.2:p.Tyr489_Gly596delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuGlyGlnSerIleLeuAspArgTyrHisGlnArgSerHisPheGlnCysGlnProProHisArgPheArgCysGlnLeuValGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914275" }, { "coordinates": [ { "allele": "A", "end": 1432, "referenceAllele": "C", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000560467.2:c.1347C>A" ], "proteinEffect": { "hgvs": "ENSP00000453513.2:p.Tyr449Ter", "hgvsWellDefined": "ENSP00000453513.2:p.Tyr449_Ala820delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914281" }, { "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "C", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.6:c.1467C>A" ], "proteinEffect": { "hgvs": "ENSP00000454071.1:p.Tyr489Ter", "hgvsWellDefined": "ENSP00000454071.1:p.Tyr489_Ala860delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760238", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000558518.6:c.1467C>A" }, "RefSeq": { "hgvs": "NM_000527.5:c.1467C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000454071.1:p.Tyr489Ter" }, "RefSeq": { "hgvs": "NP_000518.1:p.Tyr489Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1721, "referenceAllele": "C", "start": 1720 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000252444.9:c.1721C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS247326" }, { "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000455727.6:c.963C>A" ], "proteinEffect": { "hgvs": "ENSP00000397829.2:p.Tyr321Ter", "hgvsWellDefined": "ENSP00000397829.2:p.Tyr321_Ala692delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247277" }, { "coordinates": [ { "allele": "A", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000535915.5:c.1344C>A" ], "proteinEffect": { "hgvs": "ENSP00000440520.1:p.Tyr448Ter", "hgvsWellDefined": "ENSP00000440520.1:p.Tyr448_Ala819delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246643" }, { "coordinates": [ { "allele": "A", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000545707.5:c.1086C>A" ], "proteinEffect": { "hgvs": "ENSP00000437639.1:p.Tyr362Ter", "hgvsWellDefined": "ENSP00000437639.1:p.Tyr362_Ala682delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247253" }, { "coordinates": [ { "allele": "A", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000557933.5:c.1467C>A" ], "proteinEffect": { "hgvs": "ENSP00000453557.1:p.Tyr489Ter", "hgvsWellDefined": "ENSP00000453557.1:p.Tyr489_Ser948delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleAlaThrGluLeuGlyLeuTrpSerArgGlyGlnLeuCysAspArgAlaCysLeuSerLeuGlnCysSerSerSerSerPheAlaTrpGlySerSerPheTyrGlyArgThrGlyGlyLeuArgThrSerThrAlaSerThrLeuThrThrProSerIleArgArgProGlnArgMetArgSerThrPheAlaThrThrArgThrAlaThrAlaThrProArgAspArgTrpSerValTrpArgMetThrTrpArgGluHisLeuProGlyValProSerLeuProArgThrLeuProGluThrSerProAlaLeuPheTyrSerLysThrGluLysThrLysAlaLeuProAlaArgAlaLeuPheTyrIlePheIleHisLeuGlyGlyArgThrGlyPheGlyGlnCysProCysAsnGlyLeuGlyTrpAspPheGlyPhePheLeuSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247231" }, { "coordinates": [ { "allele": "A", "end": 1538, "referenceAllele": "C", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558013.5:c.1467C>A" ], "proteinEffect": { "hgvs": "ENSP00000453346.1:p.Tyr489Ter", "hgvsWellDefined": "ENSP00000453346.1:p.Tyr489_Ala858delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247327" }, { "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000558518.5:c.1467C>A" ], "proteinEffect": { "hgvs": "ENSP00000454071.1:p.Tyr489Ter", "hgvsWellDefined": "ENSP00000454071.1:p.Tyr489_Ala860delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246630" }, { "coordinates": [ { "allele": "A", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "ENST00000559340.1:c.188C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS374505" }, { "@id": "http://reg.genome.network/allele/PA211594", "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.4:c.1467C>A", "LRG_274t1:c.1467C>A" ], "proteinEffect": { "hgvs": "NP_000518.1:p.Tyr489Ter", "hgvsWellDefined": "NP_000518.1:p.Tyr489_Ala860delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006584" }, { "@id": "http://reg.genome.network/allele/PA916000211", "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "C", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.1:c.1467C>A" ], "proteinEffect": { "hgvs": "NP_001182727.1:p.Tyr489Ter", "hgvsWellDefined": "NP_001182727.1:p.Tyr489_Ala858delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016674" }, { "@id": "http://reg.genome.network/allele/PA2826213306", "coordinates": [ { "allele": "A", "end": 1531, "referenceAllele": "C", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.1:c.1344C>A" ], "proteinEffect": { "hgvs": "NP_001182728.1:p.Tyr448Ter", "hgvsWellDefined": "NP_001182728.1:p.Tyr448_Ala819delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016675" }, { "@id": "http://reg.genome.network/allele/PA2826215084", "coordinates": [ { "allele": "A", "end": 1150, "referenceAllele": "C", "start": 1149 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.1:c.963C>A" ], "proteinEffect": { "hgvs": "NP_001182729.1:p.Tyr321Ter", "hgvsWellDefined": "NP_001182729.1:p.Tyr321_Ala692delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016676" }, { "@id": "http://reg.genome.network/allele/PA2826216787", "coordinates": [ { "allele": "A", "end": 1273, "referenceAllele": "C", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.1:c.1086C>A" ], "proteinEffect": { "hgvs": "NP_001182732.1:p.Tyr362Ter", "hgvsWellDefined": "NP_001182732.1:p.Tyr362_Ala682delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016677" }, { "coordinates": [ { "allele": "A", "end": 1617, "referenceAllele": "C", "start": 1616 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.1:c.1467C>A" ], "proteinEffect": { "hgvs": "XP_011526312.1:p.Tyr489Ter", "hgvsWellDefined": "XP_011526312.1:p.Tyr489_Ala834delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095090" }, { "coordinates": [ { "allele": "A", "end": 1268, "referenceAllele": "C", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528011.1:c.1086C>A" ], "proteinEffect": { "hgvs": "XP_011526313.1:p.Tyr362Ter", "hgvsWellDefined": "XP_011526313.1:p.Tyr362_Ala733delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095091" }, { "coordinates": [ { "allele": "A", "end": 1617, "referenceAllele": "C", "start": 1616 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_244074.2:n.1617C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116667" }, { "coordinates": [ { "allele": "A", "end": 1584, "referenceAllele": "C", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XM_011528010.2:c.1467C>A" ], "proteinEffect": { "hgvs": "XP_011526312.1:p.Tyr489Ter", "hgvsWellDefined": "XP_011526312.1:p.Tyr489_Ala834delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548934" }, { "coordinates": [ { "allele": "A", "end": 1584, "referenceAllele": "C", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753685.2:n.1584C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600154" }, { "coordinates": [ { "allele": "A", "end": 1584, "referenceAllele": "C", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "XR_001753686.2:n.1584C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS600155" }, { "@id": "http://reg.genome.network/allele/PA211594", "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "C", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_000527.5:c.1467C>A" ], "proteinEffect": { "hgvs": "NP_000518.1:p.Tyr489Ter", "hgvsWellDefined": "NP_000518.1:p.Tyr489_Ala860delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674880", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000558518.6:c.1467C>A" }, "RefSeq": { "hgvs": "NM_000527.5:c.1467C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000454071.1:p.Tyr489Ter" }, "RefSeq": { "hgvs": "NP_000518.1:p.Tyr489Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916000211", "coordinates": [ { "allele": "A", "end": 1553, "referenceAllele": "C", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195798.2:c.1467C>A" ], "proteinEffect": { "hgvs": "NP_001182727.1:p.Tyr489Ter", "hgvsWellDefined": "NP_001182727.1:p.Tyr489_Ala858delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679343" }, { "@id": "http://reg.genome.network/allele/PA2826213306", "coordinates": [ { "allele": "A", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195799.2:c.1344C>A" ], "proteinEffect": { "hgvs": "NP_001182728.1:p.Tyr448Ter", "hgvsWellDefined": "NP_001182728.1:p.Tyr448_Ala819delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679344" }, { "@id": "http://reg.genome.network/allele/PA2826215084", "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195800.2:c.963C>A" ], "proteinEffect": { "hgvs": "NP_001182729.1:p.Tyr321Ter", "hgvsWellDefined": "NP_001182729.1:p.Tyr321_Ala692delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGlyValAsnTrpCysGluArgThrThrLeuSerAsnGlyGlyCysGlnTyrLeuCysLeuProAlaProGlnIleAsnProHisSerProLysPheThrCysAlaCysProAspGlyMetLeuLeuAlaArgAspMetArgSerCysLeuThrGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679345" }, { "@id": "http://reg.genome.network/allele/PA2826216787", "coordinates": [ { "allele": "A", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN006547", "geneNCBI_id": 3949, "geneSymbol": "LDLR", "hgvs": [ "NM_001195803.2:c.1086C>A" ], "proteinEffect": { "hgvs": "NP_001182732.1:p.Tyr362Ter", "hgvsWellDefined": "NP_001182732.1:p.Tyr362_Ala682delinsTrpThrAspSerValLeuGlyThrValSerValAlaAspThrLysGlyValLysArgLysThrLeuPheArgGluAsnGlySerLysProArgAlaIleValValAspProValHisGlyPheMetTyrTrpThrAspTrpGlyThrProAlaLysIleLysLysGlyGlyLeuAsnGlyValAspIleTyrSerLeuValThrGluAsnIleGlnTrpProAsnGlyIleThrLeuAspLeuLeuSerGlyArgLeuTyrTrpValAspSerLysLeuHisSerIleSerSerIleAspValAsnGlyGlyAsnArgLysThrIleLeuGluAspGluLysArgLeuAlaHisProPheSerLeuAlaValPheGluAspLysValPheTrpThrAspIleIleAsnGluAlaIlePheSerAlaAsnArgLeuThrGlySerAspValAsnLeuLeuAlaGluAsnLeuLeuSerProGluAspMetValLeuPheHisAsnLeuThrGlnProArgGluAlaGluAlaAlaValAlaThrGlnGluThrSerThrValArgLeuLysValSerSerThrAlaValArgThrGlnHisThrThrThrArgProValProAspThrSerArgLeuProGlyAlaThrProGlyLeuThrThrValGluIleValThrMetSerHisGlnAlaLeuGlyAspValAlaGlyArgGlyAsnGluLysLysProSerSerValArgAlaLeuSerIleValLeuProIleValLeuLeuValPheLeuCysLeuGlyValPheLeuLeuTrpLysAsnTrpArgLeuLysAsnIleAsnSerIleAsnPheAspAsnProValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyrProSerArgGlnMetValSerLeuGluAspAspValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679346" } ], "type": "nucleotide" }