{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA399498740", "communityStandardTitle": [ "NM_002230.4(JUP):c.1121G>A (p.Trp374Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3114701[alleleid]", "alleleId": 3114701, "preferredName": "NM_002230.4(JUP):c.1121G>A (p.Trp374Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2953146", "RCV": [ "RCV003810264" ], "variationId": 2953146 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.39921002C>T?assembly=hg19", "id": "chr17:g.39921002C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41764750C>T?assembly=hg38", "id": "chr17:g.41764750C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2544127550", "rs": 2544127550 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 41764750, "referenceAllele": "C", "start": 41764749 } ], "hgvs": [ "NC_000017.11:g.41764750C>T", "CM000679.2:g.41764750C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 39921002, "referenceAllele": "C", "start": 39921001 } ], "hgvs": [ "NC_000017.10:g.39921002C>T", "CM000679.1:g.39921002C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 37174528, "referenceAllele": "C", "start": 37174527 } ], "hgvs": [ "NC_000017.9:g.37174528C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 26963, "referenceAllele": "G", "start": 26962 } ], "hgvs": [ "NG_009090.2:g.26963G>A", "LRG_401:g.26963G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001423" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1253, "referenceAllele": "G", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.8:c.1121G>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Trp374Ter", "hgvsWellDefined": "ENSP00000377508.3:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753190", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.1121G>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.1121G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Trp374Ter" }, "RefSeq": { "hgvs": "NP_002221.1:p.Trp374Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "G", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000310706.9:c.1121G>A" ], "proteinEffect": { "hgvs": "ENSP00000311113.5:p.Trp374Ter", "hgvsWellDefined": "ENSP00000311113.5:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256405" }, { "coordinates": [ { "allele": "A", "end": 1338, "referenceAllele": "G", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393930.5:c.1121G>A" ], "proteinEffect": { "hgvs": "ENSP00000377507.1:p.Trp374Ter", "hgvsWellDefined": "ENSP00000377507.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275885" }, { "coordinates": [ { "allele": "A", "end": 1240, "referenceAllele": "G", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "ENST00000393931.7:c.1121G>A" ], "proteinEffect": { "hgvs": "ENSP00000377508.3:p.Trp374Ter", "hgvsWellDefined": "ENSP00000377508.3:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275886" }, { "@id": "http://reg.genome.network/allele/PA2829368710", "coordinates": [ { "allele": "A", "end": 1254, "referenceAllele": "G", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.2:c.1121G>A", "LRG_401t2:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Trp374Ter", "hgvsWellDefined": "NP_002221.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027550" }, { "@id": "http://reg.genome.network/allele/PA2741981202", "coordinates": [ { "allele": "A", "end": 1254, "referenceAllele": "G", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.2:c.1121G>A", "LRG_401t1:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Trp374Ter", "hgvsWellDefined": "NP_068831.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037134" }, { "coordinates": [ { "allele": "A", "end": 1362, "referenceAllele": "G", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721873.1:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_006721936.1:p.Trp374Ter", "hgvsWellDefined": "XP_006721936.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074292" }, { "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "G", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.1:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Trp374Ter", "hgvsWellDefined": "XP_006721937.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074293" }, { "coordinates": [ { "allele": "A", "end": 1336, "referenceAllele": "G", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721875.1:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_006721938.1:p.Trp374Ter", "hgvsWellDefined": "XP_006721938.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074294" }, { "coordinates": [ { "allele": "A", "end": 1317, "referenceAllele": "G", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721878.1:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_006721941.1:p.Trp374Ter", "hgvsWellDefined": "XP_006721941.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074295" }, { "coordinates": [ { "allele": "A", "end": 1545, "referenceAllele": "G", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.1:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Trp374Ter", "hgvsWellDefined": "XP_011523055.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091874" }, { "coordinates": [ { "allele": "A", "end": 1442, "referenceAllele": "G", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524754.1:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_011523056.1:p.Trp374Ter", "hgvsWellDefined": "XP_011523056.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091875" }, { "coordinates": [ { "allele": "A", "end": 1249, "referenceAllele": "G", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524755.1:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_011523057.1:p.Trp374Ter", "hgvsWellDefined": "XP_011523057.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091876" }, { "coordinates": [ { "allele": "A", "end": 1147, "referenceAllele": "G", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524756.1:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_011523058.1:p.Trp374Ter", "hgvsWellDefined": "XP_011523058.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091877" }, { "coordinates": [ { "allele": "A", "end": 1143, "referenceAllele": "G", "start": 1142 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524757.1:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_011523059.1:p.Trp374Ter", "hgvsWellDefined": "XP_011523059.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091878" }, { "coordinates": [ { "allele": "A", "end": 1143, "referenceAllele": "G", "start": 1142 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524758.1:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_011523060.1:p.Trp374Ter", "hgvsWellDefined": "XP_011523060.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091879" }, { "@id": "http://reg.genome.network/allele/PA2827677799", "coordinates": [ { "allele": "A", "end": 1332, "referenceAllele": "G", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.1:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Trp374Ter", "hgvsWellDefined": "NP_001339702.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521173" }, { "@id": "http://reg.genome.network/allele/PA2827678667", "coordinates": [ { "allele": "A", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.1:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Trp374Ter", "hgvsWellDefined": "NP_001339703.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521174" }, { "@id": "http://reg.genome.network/allele/PA2827679535", "coordinates": [ { "allele": "A", "end": 1329, "referenceAllele": "G", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.1:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Trp374Ter", "hgvsWellDefined": "NP_001339704.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521175" }, { "@id": "http://reg.genome.network/allele/PA2827680403", "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "G", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.1:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Trp374Ter", "hgvsWellDefined": "NP_001339705.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521176" }, { "@id": "http://reg.genome.network/allele/PA2827681271", "coordinates": [ { "allele": "A", "end": 1322, "referenceAllele": "G", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.1:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Trp374Ter", "hgvsWellDefined": "NP_001339706.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521177" }, { "@id": "http://reg.genome.network/allele/PA2829368710", "coordinates": [ { "allele": "A", "end": 1310, "referenceAllele": "G", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.3:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Trp374Ter", "hgvsWellDefined": "NP_002221.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524974" }, { "@id": "http://reg.genome.network/allele/PA2741981202", "coordinates": [ { "allele": "A", "end": 1310, "referenceAllele": "G", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.3:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Trp374Ter", "hgvsWellDefined": "NP_068831.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526070" }, { "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "G", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_006721874.3:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_006721937.1:p.Trp374Ter", "hgvsWellDefined": "XP_006721937.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540404" }, { "coordinates": [ { "allele": "A", "end": 1540, "referenceAllele": "G", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_011524753.2:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_011523055.1:p.Trp374Ter", "hgvsWellDefined": "XP_011523055.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547581" }, { "coordinates": [ { "allele": "A", "end": 1237, "referenceAllele": "G", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024588.2:c.1172G>A" ], "proteinEffect": { "hgvs": "XP_016880077.1:p.Trp391Ter", "hgvsWellDefined": "XP_016880077.1:p.Trp391_Ala762delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575127" }, { "coordinates": [ { "allele": "A", "end": 1143, "referenceAllele": "G", "start": 1142 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "XM_017024590.1:c.1121G>A" ], "proteinEffect": { "hgvs": "XP_016880079.1:p.Trp374Ter", "hgvsWellDefined": "XP_016880079.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575128" }, { "@id": "http://reg.genome.network/allele/PA2829368710", "coordinates": [ { "allele": "A", "end": 1253, "referenceAllele": "G", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_002230.4:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_002221.1:p.Trp374Ter", "hgvsWellDefined": "NP_002221.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393931.8:c.1121G>A" }, "RefSeq": { "hgvs": "NM_002230.4:c.1121G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377508.3:p.Trp374Ter" }, "RefSeq": { "hgvs": "NP_002221.1:p.Trp374Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827677799", "coordinates": [ { "allele": "A", "end": 1275, "referenceAllele": "G", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352773.2:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_001339702.1:p.Trp374Ter", "hgvsWellDefined": "NP_001339702.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720131" }, { "@id": "http://reg.genome.network/allele/PA2827678667", "coordinates": [ { "allele": "A", "end": 1250, "referenceAllele": "G", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352774.2:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_001339703.1:p.Trp374Ter", "hgvsWellDefined": "NP_001339703.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720132" }, { "@id": "http://reg.genome.network/allele/PA2827679535", "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352775.2:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_001339704.1:p.Trp374Ter", "hgvsWellDefined": "NP_001339704.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720133" }, { "@id": "http://reg.genome.network/allele/PA2827680403", "coordinates": [ { "allele": "A", "end": 1362, "referenceAllele": "G", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352776.2:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_001339705.1:p.Trp374Ter", "hgvsWellDefined": "NP_001339705.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720134" }, { "@id": "http://reg.genome.network/allele/PA2827681271", "coordinates": [ { "allele": "A", "end": 1203, "referenceAllele": "G", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_001352777.2:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_001339706.1:p.Trp374Ter", "hgvsWellDefined": "NP_001339706.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720135" }, { "@id": "http://reg.genome.network/allele/PA2741981202", "coordinates": [ { "allele": "A", "end": 1253, "referenceAllele": "G", "start": 1252 } ], "gene": "http://reg.genome.network/gene/GN006207", "geneNCBI_id": 3728, "geneSymbol": "JUP", "hgvs": [ "NM_021991.4:c.1121G>A" ], "proteinEffect": { "hgvs": "NP_068831.1:p.Trp374Ter", "hgvsWellDefined": "NP_068831.1:p.Trp374_Ala745delinsThrLeuArgAsnLeuSerAspValAlaThrLysGlnGluGlyLeuGluSerValLeuLysIleLeuValAsnGlnLeuSerValAspAspValAsnValLeuThrCysAlaThrGlyThrLeuSerAsnLeuThrCysAsnAsnSerLysAsnLysThrLeuValThrGlnAsnSerGlyValGluAlaLeuIleHisAlaIleLeuArgAlaGlyAspLysAspAspIleThrGluProAlaValCysAlaLeuArgHisLeuThrSerArgHisProGluAlaGluMetAlaGlnAsnSerValArgLeuAsnTyrGlyIleProAlaIleValLysLeuLeuAsnGlnProAsnGlnTrpProLeuValLysAlaThrIleGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuGlnGluAlaAlaValIleProArgLeuValGlnLeuLeuValLysAlaHisGlnAspAlaGlnArgHisValAlaAlaGlyThrGlnGlnProTyrThrAspGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspProMetAsnArgMetGluIlePheArgLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerSerValGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaAspAlaIleAspAlaGluGlyAlaSerAlaProLeuMetGluLeuLeuHisSerArgAsnGluGlyThrAlaThrTyrAlaAlaAlaValLeuPheArgIleSerGluAspLysAsnProAspTyrArgLysArgValSerValGluLeuThrAsnSerLeuPheLysHisAspProAlaAlaTrpGluAlaAlaGlnSerMetIleProIleAsnGluProTyrGlyAspAspMetAspAlaThrTyrArgProMetTyrSerSerAspValProLeuAspProLeuGluMetHisMetAspMetAspGlyAspTyrProIleAspThrTyrSerAspGlyLeuArgProProTyrProThrAlaAspHisMetLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728559" } ], "type": "nucleotide" }