{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA358176111", "communityStandardTitle": [ "NM_001371596.2(MFSD8):c.525T>A (p.Cys175Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=578701[alleleid]", "alleleId": 578701, "preferredName": "NM_001371596.2(MFSD8):c.525T>A (p.Cys175Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/587755", "RCV": [ "RCV000715016" ], "variationId": 587755 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.128863228A>T?assembly=hg19", "id": "chr4:g.128863228A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.127942073A>T?assembly=hg38", "id": "chr4:g.127942073A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/556661896", "rs": 556661896 } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 127942073, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS692983" }, { "@id": "http://reg.genome.network/allele/PA2828440455", "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "T", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371592.1:c.525T>A" ], "proteinEffect": { "hgvs": "NP_001358521.1:p.Cys175Ter", "hgvsWellDefined": 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"NP_001358524.1:p.Cys130_Glu424delinsGlnAlaLeuGlyPheIleLeuGlyProGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692987" }, { "@id": "http://reg.genome.network/allele/PA2828444281", "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "T", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_001371596.2:c.525T>A" ], "proteinEffect": { "hgvs": "NP_001358525.1:p.Cys175Ter", "hgvsWellDefined": "NP_001358525.1:p.Cys175_Glu518delinsGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692988", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000641686.2:c.525T>A" }, "RefSeq": { "hgvs": "NM_001371596.2:c.525T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493218.2:p.Cys175Ter" }, "RefSeq": { "hgvs": "NP_001358525.1:p.Cys175Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA891860184", "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "T", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.3:c.525T>A" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Cys175Ter", "hgvsWellDefined": "NP_689991.1:p.Cys175_Glu518delinsGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700257" }, { "@id": "http://reg.genome.network/allele/PA891860184", "coordinates": [ { "allele": "A", "end": 667, "referenceAllele": "T", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN028486", "geneNCBI_id": 256471, "geneSymbol": "MFSD8", "hgvs": [ "NM_152778.4:c.525T>A" ], "proteinEffect": { "hgvs": "NP_689991.1:p.Cys175Ter", "hgvsWellDefined": "NP_689991.1:p.Cys175_Glu518delinsGlnAlaLeuGlyPheIleLeuGlyProValPheGlnThrCysPheThrPheLeuGlyGluLysGlyValThrTrpAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729430" } ], "type": "nucleotide" }