{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA118093", "communityStandardTitle": [ "NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21317[alleleid]", "alleleId": 21317, "preferredName": "NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6278", "RCV": [ "RCV000006656" ], "variationId": 6278 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68177492G>A?assembly=hg19", "id": "chr11:g.68177492G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.68410024G>A?assembly=hg38", "id": "chr11:g.68410024G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908667", "rs": 121908667 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68410024-G-A?dataset=gnomad_r3", "id": "11-68410024-G-A", "variant": "11:68410024 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-68410024-G-A?dataset=gnomad_r4", "id": "11-68410024-G-A", "variant": "11:68410024 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 68410024, "referenceAllele": "G", "start": 68410023 } ], "hgvs": [ "NC_000011.10:g.68410024G>A", "CM000673.2:g.68410024G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 68177492, "referenceAllele": "G", "start": 68177491 } ], "hgvs": [ "NC_000011.9:g.68177492G>A", "CM000673.1:g.68177492G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 67934068, "referenceAllele": "G", "start": 67934067 } ], "hgvs": [ "NC_000011.8:g.67934068G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 102385, "referenceAllele": "G", "start": 102384 } ], "hgvs": [ "NG_015835.1:g.102385G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002867" }, { "coordinates": [ { "allele": "A", "end": 102385, "referenceAllele": "G", "start": 102384 } ], "hgvs": [ "NG_015835.2:g.102385G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673645" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2326, "referenceAllele": "G", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "ENST00000294304.12:c.2202G>A" ], "proteinEffect": { "hgvs": "ENSP00000294304.6:p.Trp734Ter", "hgvsWellDefined": "ENSP00000294304.6:p.Trp734_Ser1615delinsAlaAspThrGlyThrAsnArgIleGluValAlaArgLeuAspGlyGlnPheArgGlnValLeuValTrpArgAspLeuAspAsnProArgSerLeuAlaLeuAspProThrLysGlyTyrIleTyrTrpThrGluTrpGlyGlyLysProArgIleValArgAlaPheMetAspGlyThrAsnCysMetThrLeuValAspLysValGlyArgAlaAsnAspLeuThrIleAspTyrAlaAspGlnArgLeuTyrTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000294304.12:c.2202G>A" }, "RefSeq": { "hgvs": "NM_002335.4:c.2202G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000294304.6:p.Trp734Ter" }, "RefSeq": { "hgvs": "NP_002326.2:p.Trp734Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2308, "referenceAllele": "G", "start": 2307 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "ENST00000294304.11:c.2202G>A" ], "proteinEffect": { "hgvs": "ENSP00000294304.6:p.Trp734Ter", "hgvsWellDefined": "ENSP00000294304.6:p.Trp734_Ser1615delinsAlaAspThrGlyThrAsnArgIleGluValAlaArgLeuAspGlyGlnPheArgGlnValLeuValTrpArgAspLeuAspAsnProArgSerLeuAlaLeuAspProThrLysGlyTyrIleTyrTrpThrGluTrpGlyGlyLysProArgIleValArgAlaPheMetAspGlyThrAsnCysMetThrLeuValAspLysValGlyArgAlaAsnAspLeuThrIleAspTyrAlaAspGlnArgLeuTyrTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253957" }, { "coordinates": [ { "allele": "A", "end": 2255, "referenceAllele": "G", "start": 2254 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "ENST00000529993.5:c.*808G>A" ], "proteinEffect": { "hgvs": "ENSP00000436652.1:n.*808G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS355316" }, { "@id": "http://reg.genome.network/allele/PA2826813051", "coordinates": [ { "allele": "A", "end": 2330, "referenceAllele": "G", "start": 2329 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "NM_001291902.1:c.459G>A" ], "proteinEffect": { "hgvs": "NP_001278831.1:p.Trp153Ter", "hgvsWellDefined": "NP_001278831.1:p.Trp153_Ser1034delinsAlaAspThrGlyThrAsnArgIleGluValAlaArgLeuAspGlyGlnPheArgGlnValLeuValTrpArgAspLeuAspAsnProArgSerLeuAlaLeuAspProThrLysGlyTyrIleTyrTrpThrGluTrpGlyGlyLysProArgIleValArgAlaPheMetAspGlyThrAsnCysMetThrLeuValAspLysValGlyArgAlaAsnAspLeuThrIleAspTyrAlaAspGlnArgLeuTyrTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024365" }, { "@id": "http://reg.genome.network/allele/PA118094", "coordinates": [ { "allele": "A", "end": 2308, "referenceAllele": "G", "start": 2307 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "NM_002335.3:c.2202G>A" ], "proteinEffect": { "hgvs": "NP_002326.2:p.Trp734Ter", "hgvsWellDefined": "NP_002326.2:p.Trp734_Ser1615delinsAlaAspThrGlyThrAsnArgIleGluValAlaArgLeuAspGlyGlnPheArgGlnValLeuValTrpArgAspLeuAspAsnProArgSerLeuAlaLeuAspProThrLysGlyTyrIleTyrTrpThrGluTrpGlyGlyLysProArgIleValArgAlaPheMetAspGlyThrAsnCysMetThrLeuValAspLysValGlyArgAlaAsnAspLeuThrIleAspTyrAlaAspGlnArgLeuTyrTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027645" }, { "coordinates": [ { "allele": "A", "end": 2303, "referenceAllele": "G", "start": 2302 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XM_005273994.2:c.2202G>A" ], "proteinEffect": { "hgvs": "XP_005274051.1:p.Trp734Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS067793" }, { "coordinates": [ { "allele": "A", "end": 2244, "referenceAllele": "G", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XM_011545029.1:c.2229G>A" ], "proteinEffect": { "hgvs": "XP_011543331.1:p.Trp743Ter", "hgvsWellDefined": "XP_011543331.1:p.Trp743_Ser1662delinsAlaAspThrGlyThrAsnArgIleGluValAlaArgLeuAspGlyGlnPheArgGlnValLeuValTrpArgAspLeuAspAsnProArgSerLeuAlaLeuAspProThrLysGlyTyrIleTyrTrpThrGluTrpGlyGlyLysProArgIleValArgAlaPheMetAspGlyThrAsnCysMetThrLeuValAspLysValGlyArgAlaAsnAspLeuThrIleAspTyrAlaAspGlnArgLeuTyrTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProGlyLeuGlySerGlyCysMetLeuSerArgMetAlaLeuGluThrHisIleSerProThrProPheGlyLysLeuHisValGlyLeuGlyCysArgGlnTrpHisLeuTrpLysIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111936" }, { "coordinates": [ { "allele": "A", "end": 2244, "referenceAllele": "G", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XM_011545030.1:c.2229G>A" ], "proteinEffect": { "hgvs": "XP_011543332.1:p.Trp743Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS111937" }, { "coordinates": [ { "allele": "A", "end": 2244, "referenceAllele": "G", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XM_011545031.1:c.2229G>A" ], "proteinEffect": { "hgvs": "XP_011543333.1:p.Trp743Ter", "hgvsWellDefined": "XP_011543333.1:p.Trp743_Val1600delinsAlaAspThrGlyThrAsnArgIleGluValAlaArgLeuAspGlyGlnPheArgGlnValLeuValTrpArgAspLeuAspAsnProArgSerLeuAlaLeuAspProThrLysGlyTyrIleTyrTrpThrGluTrpGlyGlyLysProArgIleValArgAlaPheMetAspGlyThrAsnCysMetThrLeuValAspLysValGlyArgAlaAsnAspLeuThrIleAspTyrAlaAspGlnArgLeuTyrTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProGlyLeuGlySerGlyCysMetLeuSerArgMetAlaLeuGluThrHisIleSerProThrProPheGlyLysLeuHisValGlyLeuGlyCysArgGlnTrpHisLeuTrpLysValGlnThrCysValAspProGluProAlaAlaLeuProGlyHisGlyProLeuProValGlnHisGlyHisValLeuLeuPheLysHisSerGlyHisCysGluThrValGlnAlaLeuHisHisSerArgAsnGlyAlaProAspAspAlaLeuGlnHisArgArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111938" }, { "coordinates": [ { "allele": "A", "end": 2244, "referenceAllele": "G", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XR_949925.1:n.2244G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143245" }, { "coordinates": [ { "allele": "A", "end": 2244, "referenceAllele": "G", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XR_949926.1:n.2244G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS143246" }, { "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XM_017017735.1:c.459G>A" ], "proteinEffect": { "hgvs": "XP_016873224.1:p.Trp153Ter", "hgvsWellDefined": "XP_016873224.1:p.Trp153_Ser1072delinsAlaAspThrGlyThrAsnArgIleGluValAlaArgLeuAspGlyGlnPheArgGlnValLeuValTrpArgAspLeuAspAsnProArgSerLeuAlaLeuAspProThrLysGlyTyrIleTyrTrpThrGluTrpGlyGlyLysProArgIleValArgAlaPheMetAspGlyThrAsnCysMetThrLeuValAspLysValGlyArgAlaAsnAspLeuThrIleAspTyrAlaAspGlnArgLeuTyrTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProGlyLeuGlySerGlyCysMetLeuSerArgMetAlaLeuGluThrHisIleSerProThrProPheGlyLysLeuHisValGlyLeuGlyCysArgGlnTrpHisLeuTrpLysIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS569854" }, { "coordinates": [ { "allele": "A", "end": 2244, "referenceAllele": "G", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XR_001747874.1:n.2244G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595971" }, { "coordinates": [ { "allele": "A", "end": 2244, "referenceAllele": "G", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XR_949925.2:n.2244G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS615426" }, { "coordinates": [ { "allele": "A", "end": 2244, "referenceAllele": "G", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "XR_949926.2:n.2244G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS615427" }, { "@id": "http://reg.genome.network/allele/PA118094", "coordinates": [ { "allele": "A", "end": 2326, "referenceAllele": "G", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "NM_002335.4:c.2202G>A" ], "proteinEffect": { "hgvs": "NP_002326.2:p.Trp734Ter", "hgvsWellDefined": "NP_002326.2:p.Trp734_Ser1615delinsAlaAspThrGlyThrAsnArgIleGluValAlaArgLeuAspGlyGlnPheArgGlnValLeuValTrpArgAspLeuAspAsnProArgSerLeuAlaLeuAspProThrLysGlyTyrIleTyrTrpThrGluTrpGlyGlyLysProArgIleValArgAlaPheMetAspGlyThrAsnCysMetThrLeuValAspLysValGlyArgAlaAsnAspLeuThrIleAspTyrAlaAspGlnArgLeuTyrTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665471", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000294304.12:c.2202G>A" }, "RefSeq": { "hgvs": "NM_002335.4:c.2202G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000294304.6:p.Trp734Ter" }, "RefSeq": { "hgvs": "NP_002326.2:p.Trp734Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826813051", "coordinates": [ { "allele": "A", "end": 2348, "referenceAllele": "G", "start": 2347 } ], "gene": "http://reg.genome.network/gene/GN006697", "geneNCBI_id": 4041, "geneSymbol": "LRP5", "hgvs": [ "NM_001291902.2:c.459G>A" ], "proteinEffect": { "hgvs": "NP_001278831.1:p.Trp153Ter", "hgvsWellDefined": "NP_001278831.1:p.Trp153_Ser1034delinsAlaAspThrGlyThrAsnArgIleGluValAlaArgLeuAspGlyGlnPheArgGlnValLeuValTrpArgAspLeuAspAsnProArgSerLeuAlaLeuAspProThrLysGlyTyrIleTyrTrpThrGluTrpGlyGlyLysProArgIleValArgAlaPheMetAspGlyThrAsnCysMetThrLeuValAspLysValGlyArgAlaAsnAspLeuThrIleAspTyrAlaAspGlnArgLeuTyrTrpThrAspLeuAspThrAsnMetIleGluSerSerAsnMetLeuGlyGlnGluArgValValIleAlaAspAspLeuProHisProPheGlyLeuThrGlnTyrSerAspTyrIleTyrTrpThrAspTrpAsnLeuHisSerIleGluArgAlaAspLysThrSerGlyArgAsnArgThrLeuIleGlnGlyHisLeuAspPheValMetAspIleLeuValPheHisSerSerArgGlnAspGlyLeuAsnAspCysMetHisAsnAsnGlyGlnCysGlyGlnLeuCysLeuAlaIleProGlyGlyHisArgCysGlyCysAlaSerHisTyrThrLeuAspProSerSerArgAsnCysSerProProThrThrPheLeuLeuPheSerGlnLysSerAlaIleSerArgMetIleProAspAspGlnHisSerProAspLeuIleLeuProLeuHisGlyLeuArgAsnValLysAlaIleAspTyrAspProLeuAspLysPheIleTyrTrpValAspGlyArgGlnAsnIleLysArgAlaLysAspAspGlyThrGlnProPheValLeuThrSerLeuSerGlnGlyGlnAsnProAspArgGlnProHisAspLeuSerIleAspIleTyrSerArgThrLeuPheTrpThrCysGluAlaThrAsnThrIleAsnValHisArgLeuSerGlyGluAlaMetGlyValValLeuArgGlyAspArgAspLysProArgAlaIleValValAsnAlaGluArgGlyTyrLeuTyrPheThrAsnMetGlnAspArgAlaAlaLysIleGluArgAlaAlaLeuAspGlyThrGluArgGluValLeuPheThrThrGlyLeuIleArgProValAlaLeuValValAspAsnThrLeuGlyLysLeuPheTrpValAspAlaAspLeuLysArgIleGluSerCysAspLeuSerGlyAlaAsnArgLeuThrLeuGluAspAlaAsnIleValGlnProLeuGlyLeuThrIleLeuGlyLysHisLeuTyrTrpIleAspArgGlnGlnGlnMetIleGluArgValGluLysThrThrGlyAspLysArgThrArgIleGlnGlyArgValAlaHisLeuThrGlyIleHisAlaValGluGluValSerLeuGluGluPheSerAlaHisProCysAlaArgAspAsnGlyGlyCysSerHisIleCysIleAlaLysGlyAspGlyThrProArgCysSerCysProValHisLeuValLeuLeuGlnAsnLeuLeuThrCysGlyGluProProThrCysSerProAspGlnPheAlaCysAlaThrGlyGluIleAspCysIleProGlyAlaTrpArgCysAspGlyPheProGluCysAspAspGlnSerAspGluGluGlyCysProValCysSerAlaAlaGlnPheProCysAlaArgGlyGlnCysValAspLeuArgLeuArgCysAspGlyGluAlaAspCysGlnAspArgSerAspGluAlaAspCysAspAlaIleCysLeuProAsnGlnPheArgCysAlaSerGlyGlnCysValLeuIleLysGlnGlnCysAspSerPheProAspCysIleAspGlySerAspGluLeuMetCysGluIleThrLysProProSerAspAspSerProAlaHisSerSerAlaIleGlyProValIleGlyIleIleLeuSerLeuPheValMetGlyGlyValTyrPheValCysGlnArgValValCysGlnArgTyrAlaGlyAlaAsnGlyProPheProHisGluTyrValSerGlyThrProHisValProLeuAsnPheIleAlaProGlyGlySerGlnHisGlyProPheThrGlyIleAlaCysGlyLysSerMetMetSerSerValSerLeuMetGlyGlyArgGlyGlyValProLeuTyrAspArgAsnHisValThrGlyAlaSerSerSerSerSerSerSerThrLysAlaThrLeuTyrProProIleLeuAsnProProProSerProAlaThrAspProSerLeuTyrAsnMetAspMetPheTyrSerSerAsnIleProAlaThrAlaArgProTyrArgProTyrIleIleArgGlyMetAlaProProThrThrProCysSerThrAspValCysAspSerAspTyrSerAlaSerArgTrpLysAlaSerLysTyrTyrLeuAspLeuAsnSerAspSerAspProTyrProProProProThrProHisSerGlnTyrLeuSerAlaGluAspSerCysProProSerProAlaThrGluArgSerTyrPheHisLeuPheProProProProSerProCysThrAspSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682899" } ], "type": "nucleotide" }