{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA118087", "communityStandardTitle": [ "NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21311[alleleid]", "alleleId": 21311, "preferredName": "NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6272", "RCV": [ "RCV000006650" ], "variationId": 6272 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68181210C>T?assembly=hg19", "id": "chr11:g.68181210C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68413742C>T?assembly=hg38", "id": "chr11:g.68413742C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908663", "rs": 121908663 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 68413742, "referenceAllele": "C", "start": 68413741 } ], "hgvs": [ "NC_000011.10:g.68413742C>T", "CM000673.2:g.68413742C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 68181210, "referenceAllele": "C", "start": 68181209 } ], "hgvs": [ "NC_000011.9:g.68181210C>T", "CM000673.1:g.68181210C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 67937786, "referenceAllele": "C", "start": 67937785 } ], "hgvs": [ "NC_000011.8:g.67937786C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 106103, "referenceAllele": "C", "start": 106102 } ], "hgvs": [ "NG_015835.1:g.106103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002867" }, { "coordinates": [ { "allele": "T", "end": 106103, "referenceAllele": "C", "start": 106102 } ], "hgvs": [ "NG_015835.2:g.106103C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673645" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2681, "referenceAllele": "C", "start": 2680 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "ENST00000294304.12:c.2557C>T" ], "proteinEffect": { "hgvs": "ENSP00000294304.6:p.Gln853Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS744212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000294304.12:c.2557C>T" }, "RefSeq": { "hgvs": "NM_002335.4:c.2557C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000294304.6:p.Gln853Ter" }, "RefSeq": { "hgvs": "NP_002326.2:p.Gln853Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2663, "referenceAllele": "C", "start": 2662 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "ENST00000294304.11:c.2557C>T" ], "proteinEffect": { "hgvs": "ENSP00000294304.6:p.Gln853Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS253957" }, { "coordinates": [ { "allele": "T", "end": 2610, "referenceAllele": "C", "start": 2609 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "ENST00000529993.5:c.*1163C>T" ], "proteinEffect": { "hgvs": "ENSP00000436652.1:n.*1163C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS355316" }, { "@id": "http://reg.genome.network/allele/PA2826813176", "coordinates": [ { "allele": "T", "end": 2685, "referenceAllele": "C", "start": 2684 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "NM_001291902.1:c.814C>T" ], "proteinEffect": { "hgvs": "NP_001278831.1:p.Gln272Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS024365" }, { "@id": "http://reg.genome.network/allele/PA118088", "coordinates": [ { "allele": "T", "end": 2663, "referenceAllele": "C", "start": 2662 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "NM_002335.3:c.2557C>T" ], "proteinEffect": { "hgvs": "NP_002326.2:p.Gln853Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS027645" }, { "coordinates": [ { "allele": "T", "end": 2658, "referenceAllele": "C", "start": 2657 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XM_005273994.2:c.2557C>T" ], "proteinEffect": { "hgvs": "XP_005274051.1:p.Gln853Ter", "hgvsWellDefined": "XP_005274051.1:p.Gln853_Ser1653delinsTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProGlyLeuGlySerGlyCysMetLeuSerArgMetAlaLeuGluThrHisIleSerProThrProPheGlyLysLeuHisValGlyLeuGlyCysArgGlnTrpHisLeuTrpLysIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067793" }, { "coordinates": [ { "allele": "T", "end": 2599, "referenceAllele": "C", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XM_011545029.1:c.2584C>T" ], "proteinEffect": { "hgvs": "XP_011543331.1:p.Gln862Ter", "hgvsWellDefined": "XP_011543331.1:p.Gln862_Ser1662delinsTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProGlyLeuGlySerGlyCysMetLeuSerArgMetAlaLeuGluThrHisIleSerProThrProPheGlyLysLeuHisValGlyLeuGlyCysArgGlnTrpHisLeuTrpLysIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111936" }, { "coordinates": [ { "allele": "T", "end": 2599, "referenceAllele": "C", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XM_011545030.1:c.2584C>T" ], "proteinEffect": { "hgvs": "XP_011543332.1:p.Gln862Ter", "hgvsWellDefined": "XP_011543332.1:p.Gln862_Ser1624delinsTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111937" }, { "coordinates": [ { "allele": "T", "end": 2599, "referenceAllele": "C", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XM_011545031.1:c.2584C>T" ], "proteinEffect": { "hgvs": "XP_011543333.1:p.Gln862Ter", "hgvsWellDefined": "XP_011543333.1:p.Gln862_Val1600delinsTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProGlyLeuGlySerGlyCysMetLeuSerArgMetAlaLeuGluThrHisIleSerProThrProPheGlyLysLeuHisValGlyLeuGlyCysArgGlnTrpHisLeuTrpLysValGlnThrCysValAspProGluProAlaAlaLeuProGlyHisGlyProLeuProValGlnHisGlyHisValLeuLeuPheLysHisSerGlyHisCysGluThrValGlnAlaLeuHisHisSerArgAsnGlyAlaProAspAspAlaLeuGlnHisArgArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111938" }, { "coordinates": [ { "allele": "T", "end": 2599, "referenceAllele": "C", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XR_949925.1:n.2599C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143245" }, { "coordinates": [ { "allele": "T", "end": 2599, "referenceAllele": "C", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XR_949926.1:n.2599C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS143246" }, { "coordinates": [ { "allele": "T", "end": 879, "referenceAllele": "C", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XM_017017735.1:c.814C>T" ], "proteinEffect": { "hgvs": "XP_016873224.1:p.Gln272Ter", "hgvsWellDefined": "XP_016873224.1:p.Gln272_Ser1072delinsTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProGlyLeuGlySerGlyCysMetLeuSerArgMetAlaLeuGluThrHisIleSerProThrProPheGlyLysLeuHisValGlyLeuGlyCysArgGlnTrpHisLeuTrpLysIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569854" }, { "coordinates": [ { "allele": "T", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XM_017017736.1:c.97C>T" ], "proteinEffect": { "hgvs": "XP_016873225.1:p.Gln33Ter", "hgvsWellDefined": "XP_016873225.1:p.Gln33_Ser833delinsTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProGlyLeuGlySerGlyCysMetLeuSerArgMetAlaLeuGluThrHisIleSerProThrProPheGlyLysLeuHisValGlyLeuGlyCysArgGlnTrpHisLeuTrpLysIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569855" }, { "coordinates": [ { "allele": "T", "end": 2823, "referenceAllele": "C", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XR_001747874.1:n.2823C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595971" }, { "coordinates": [ { "allele": "T", "end": 2599, "referenceAllele": "C", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XR_949925.2:n.2599C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS615426" }, { "coordinates": [ { "allele": "T", "end": 2599, "referenceAllele": "C", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XR_949926.2:n.2599C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS615427" }, { "@id": "http://reg.genome.network/allele/PA118088", "coordinates": [ { "allele": "T", "end": 2681, "referenceAllele": "C", "start": 2680 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "NM_002335.4:c.2557C>T" ], "proteinEffect": { "hgvs": "NP_002326.2:p.Gln853Ter", "hgvsWellDefined": "NP_002326.2:p.Gln853_Ser1615delinsTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665471", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000294304.12:c.2557C>T" }, "RefSeq": { "hgvs": "NM_002335.4:c.2557C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000294304.6:p.Gln853Ter" }, "RefSeq": { "hgvs": "NP_002326.2:p.Gln853Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826813176", "coordinates": [ { "allele": "T", "end": 2703, "referenceAllele": "C", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "NM_001291902.2:c.814C>T" ], "proteinEffect": { "hgvs": "NP_001278831.1:p.Gln272Ter", "hgvsWellDefined": "NP_001278831.1:p.Gln272_Ser1034delinsTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682899" } ], "type": "nucleotide" }