{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2631690", "communityStandardTitle": [ "NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259751[alleleid]", "alleleId": 259751, "preferredName": "NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265422", "RCV": [ "RCV000255741", "RCV000613658", "RCV001814133" ], "variationId": 265422 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/3-135975430-C-T", "id": "3-135975430-C-T", "variant": "3:135975430 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.135975430C>T?assembly=hg19", "id": "chr3:g.135975430C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.136256588C>T?assembly=hg38", "id": "chr3:g.136256588C>T" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS249758" }, { "coordinates": [ { "allele": "T", "end": 221, "referenceAllele": "C", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000459873.1:c.88C>T" ], "proteinEffect": { "hgvs": "ENSP00000419293.1:p.Arg30Ter", "hgvsWellDefined": "ENSP00000419293.1:p.Arg30_Val134del" }, "referenceSequence": "http://reg.genome.network/refseq/RS304743" }, { "coordinates": [ { "allele": "T", "end": 204, "referenceAllele": "C", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000462542.5:c.204C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS306770" }, { "coordinates": [ { "allele": "T", "end": 324, "endIntronDirection": "+", "endIntronOffset": 613, "referenceAllele": "C", "start": 324, "startIntronDirection": "+", "startIntronOffset": 612 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000462637.5:c.303+613C>T" ], "proteinEffect": { "hgvs": "ENSP00000420391.1:n.303+613C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS306841" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000465176.5:n.299C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308837" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000465423.5:c.424C>T" ], "proteinEffect": { "hgvs": "ENSP00000419263.1:p.Arg142Ter", "hgvsWellDefined": "ENSP00000419263.1:p.Arg142_Gly192del" }, "referenceSequence": "http://reg.genome.network/refseq/RS309030" }, { "coordinates": [ { 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"ENSP00000420158.1:p.Arg113_Leu559delinsIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS309530" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000468777.5:c.337C>T" ], "proteinEffect": { "hgvs": "ENSP00000419129.1:p.Arg113Ter", "hgvsWellDefined": "ENSP00000419129.1:p.Arg113_Leu570delinsIleAsnGlyArgLeuValTyrValPheSerGlnIleArgAlaSerAlaMetSerProArgLeuValSerAspSerTrpThrGlnAlaIleHisLeuProTrpProProLysValLeuGlyLeuGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS311613" }, { "coordinates": [ { "allele": "T", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000469217.5:c.337C>T" ], "proteinEffect": { "hgvs": "ENSP00000419027.1:p.Arg113Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS311954" }, { "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000471595.5:c.337C>T" ], "proteinEffect": { "hgvs": "ENSP00000417549.1:p.Arg113Ter", "hgvsWellDefined": "ENSP00000417549.1:p.Arg113_Trp550delinsIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValArgValGlnGluValPheHisGlnValValGlnSerGlyHisArgAspGlyArgGlyAlaValArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS313756" }, { "coordinates": [ { "allele": "T", "end": 168, "endIntronDirection": "+", "endIntronOffset": 6030, "referenceAllele": "C", "start": 168, "startIntronDirection": "+", "startIntronOffset": 6029 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000474833.5:n.168+6030C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS316247" }, { "coordinates": [ { "allele": "T", "end": 251, "referenceAllele": "C", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000475214.5:n.251C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS316544" }, { "coordinates": [ { "allele": "T", "end": 338, "referenceAllele": "C", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000478469.5:c.337C>T" ], "proteinEffect": { "hgvs": "ENSP00000420759.1:p.Arg113Ter", "hgvsWellDefined": "ENSP00000420759.1:p.Arg113_His303delinsIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerProThrPheCysLeuTrpLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS319072" }, { "coordinates": [ { "allele": "T", "end": 114, "endIntronDirection": "-", "endIntronOffset": 5375, "referenceAllele": "C", "start": 114, "startIntronDirection": "-", "startIntronOffset": 5376 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000482086.5:c.94-5376C>T" ], "proteinEffect": { "hgvs": "ENSP00000417253.1:n.94-5376C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS321866" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000483687.5:c.337C>T" ], "proteinEffect": { "hgvs": "ENSP00000420639.1:p.Arg113Ter", "hgvsWellDefined": "ENSP00000420639.1:p.Arg113_Leu520delinsIleAsnGlyArgLeuValTyrValPheSerGlnIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323097" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000484181.5:c.337C>T" ], "proteinEffect": { "hgvs": "ENSP00000417937.1:p.Arg113Ter", "hgvsWellDefined": "ENSP00000417937.1:p.Arg113_Leu405delinsIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyLeuTrpArgCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323492" }, { "coordinates": [ { "allele": "T", "end": 358, "referenceAllele": "C", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000490504.5:c.337C>T" ], "proteinEffect": { "hgvs": "ENSP00000418307.1:p.Arg113Ter", "hgvsWellDefined": "ENSP00000418307.1:p.Arg113_Leu482delinsIleAsnGlyArgLeuValTyrValPheSerGlnArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS328307" }, { "coordinates": [ { "allele": "T", "end": 381, "referenceAllele": "C", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000494742.5:c.88C>T" ], "proteinEffect": { "hgvs": "ENSP00000418020.1:p.Arg30Ter", "hgvsWellDefined": "ENSP00000418020.1:p.Arg30Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS331597" }, { "@id": "http://reg.genome.network/allele/PA645434341", "coordinates": [ { "allele": "T", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_000532.4:c.337C>T" ], "proteinEffect": { "hgvs": "NP_000523.2:p.Arg113Ter", "hgvsWellDefined": "NP_000523.2:p.Arg113_Leu539delinsIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006590" }, { "@id": "http://reg.genome.network/allele/PA915994178", "coordinates": [ { "allele": "T", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_001178014.1:c.337C>T" ], "proteinEffect": { "hgvs": "NP_001171485.1:p.Arg113Ter", "hgvsWellDefined": "NP_001171485.1:p.Arg113_Leu559delinsIleAsnGlyArgLeuValTyrValPheSerGlnGlnIleIleGlyTrpAlaGlnTrpLeuProLeuValIleSerAlaLeuTrpGluAlaGluAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015808" }, { "coordinates": [ { "allele": "T", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.1:c.337C>T" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Arg113Ter", "hgvsWellDefined": "XP_011511175.1:p.Arg113_Pro387delinsIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080128" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.2:c.337C>T" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Arg113Ter", "hgvsWellDefined": "XP_011511175.1:p.Arg113_Pro387delinsIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542709" }, { "@id": "http://reg.genome.network/allele/PA645434341", "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_000532.5:c.337C>T" ], "proteinEffect": { "hgvs": "NP_000523.2:p.Arg113Ter", "hgvsWellDefined": "NP_000523.2:p.Arg113_Leu539delinsIleAsnGlyArgLeuValTyrValPheSerGlnAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662476", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251654.9:c.337C>T" }, "RefSeq": { "hgvs": "NM_000532.5:c.337C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251654.4:p.Arg113Ter" }, "RefSeq": { "hgvs": "NP_000523.2:p.Arg113Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915994178", "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_001178014.2:c.337C>T" ], "proteinEffect": { "hgvs": "NP_001171485.1:p.Arg113Ter", "hgvsWellDefined": "NP_001171485.1:p.Arg113_Leu559delinsIleAsnGlyArgLeuValTyrValPheSerGlnGlnIleIleGlyTrpAlaGlnTrpLeuProLeuValIleSerAlaLeuTrpGluAlaGluAspPheThrValPheGlyGlySerLeuSerGlyAlaHisAlaGlnLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713549" } ], "type": "nucleotide" }