{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA354739529", "communityStandardTitle": [ "NM_000532.5(PCCB):c.439C>T (p.Gln147Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3034497[alleleid]", "alleleId": 3034497, "preferredName": "NM_000532.5(PCCB):c.439C>T (p.Gln147Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2871319", "RCV": [ "RCV003623956" ], "variationId": 2871319 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.135980803C>T?assembly=hg19", "id": "chr3:g.135980803C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.136261961C>T?assembly=hg38", "id": "chr3:g.136261961C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1941839852", "rs": 1941839852 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-136261961-C-T?dataset=gnomad_r4", "id": "3-136261961-C-T", "variant": "3:136261961 C / T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 136261961, "referenceAllele": "C", "start": 136261960 } ], "hgvs": [ "NC_000003.12:g.136261961C>T", "CM000665.2:g.136261961C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 135980803, "referenceAllele": "C", "start": 135980802 } ], "hgvs": [ "NC_000003.11:g.135980803C>T", "CM000665.1:g.135980803C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 137463493, "referenceAllele": "C", "start": 137463492 } ], "hgvs": [ "NC_000003.10:g.137463493C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 16637, "referenceAllele": "C", "start": 16636 } ], "hgvs": [ "NG_008939.1:g.16637C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001317" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "C", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000251654.9:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000251654.4:p.Gln147Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS741494", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251654.9:c.439C>T" }, "RefSeq": { "hgvs": "NM_000532.5:c.439C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251654.4:p.Gln147Ter" }, "RefSeq": { "hgvs": "NP_000523.2:p.Gln147Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000251654.8:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000251654.4:p.Gln147Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS249758" }, { "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "C", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000459873.1:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000419293.1:p.Gln64Ter", "hgvsWellDefined": "ENSP00000419293.1:p.Gln64_Val134del" }, "referenceSequence": "http://reg.genome.network/refseq/RS304743" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000462542.5:c.306C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS306770" }, { "coordinates": [ { "allele": "T", "end": 391, "referenceAllele": "C", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000462637.5:c.370C>T" ], "proteinEffect": { "hgvs": "ENSP00000420391.1:p.Gln124Ter", "hgvsWellDefined": "ENSP00000420391.1:p.Gln124_Leu516delinsAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" 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"ENST00000466072.5:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000420158.1:p.Gln147Ter", "hgvsWellDefined": "ENSP00000420158.1:p.Gln147_Leu559delinsAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS309530" }, { "coordinates": [ { "allele": "T", "end": 553, "referenceAllele": "C", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000468777.5:c.532C>T" ], "proteinEffect": { "hgvs": "ENSP00000419129.1:p.Gln178Ter", "hgvsWellDefined": "ENSP00000419129.1:p.Gln178_Leu570delinsAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS311613" }, { "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "C", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000469217.5:c.499C>T" ], "proteinEffect": { "hgvs": "ENSP00000419027.1:p.Gln167Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS311954" }, { "coordinates": [ { "allele": "T", "end": 457, "referenceAllele": "C", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000471595.5:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000417549.1:p.Gln147Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS316544" }, { "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000478469.5:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000420759.1:p.Gln147Ter", "hgvsWellDefined": "ENSP00000420759.1:p.Gln147_His303delinsAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerProThrPheCysLeuTrpLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS319072" }, { "coordinates": [ { "allele": "T", "end": 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"ENSP00000420639.1:p.Gln128_Leu520delinsAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323097" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000484181.5:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000417937.1:p.Gln147Ter", "hgvsWellDefined": "ENSP00000417937.1:p.Gln147_Leu405delinsAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyLeuTrpArgCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323492" }, { "coordinates": [ { "allele": "T", "end": 393, "endIntronDirection": "+", "endIntronOffset": 5338, "referenceAllele": "C", "start": 393, "startIntronDirection": "+", "startIntronOffset": 5337 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000490504.5:c.372+5338C>T" ], "proteinEffect": { "hgvs": "ENSP00000418307.1:n.372+5338C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS328307" }, { "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000494742.5:c.190C>T" ], "proteinEffect": { "hgvs": "ENSP00000418020.1:p.Gln64Ter", "hgvsWellDefined": "ENSP00000418020.1:p.Gln64Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS331597" }, { "@id": "http://reg.genome.network/allele/PA2825187350", "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_000532.4:c.439C>T" ], "proteinEffect": { "hgvs": "NP_000523.2:p.Gln147Ter", "hgvsWellDefined": "NP_000523.2:p.Gln147_Leu539delinsAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006590" }, { "@id": "http://reg.genome.network/allele/PA2741844351", "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_001178014.1:c.499C>T" ], "proteinEffect": { "hgvs": "NP_001171485.1:p.Gln167Ter", "hgvsWellDefined": "NP_001171485.1:p.Gln167_Leu559delinsAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015808" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.1:c.439C>T" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Gln147Ter", "hgvsWellDefined": "XP_011511175.1:p.Gln147_Pro387delinsAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080128" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "C", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.2:c.439C>T" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Gln147Ter", "hgvsWellDefined": "XP_011511175.1:p.Gln147_Pro387delinsAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542709" }, { "@id": "http://reg.genome.network/allele/PA2825187350", "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "C", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_000532.5:c.439C>T" ], "proteinEffect": { "hgvs": "NP_000523.2:p.Gln147Ter", "hgvsWellDefined": "NP_000523.2:p.Gln147_Leu539delinsAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662476", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251654.9:c.439C>T" }, "RefSeq": { "hgvs": "NM_000532.5:c.439C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251654.4:p.Gln147Ter" }, "RefSeq": { "hgvs": "NP_000523.2:p.Gln147Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741844351", "coordinates": [ { "allele": "T", "end": 535, "referenceAllele": "C", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_001178014.2:c.499C>T" ], "proteinEffect": { "hgvs": "NP_001171485.1:p.Gln167Ter", "hgvsWellDefined": "NP_001171485.1:p.Gln167_Leu559delinsAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713549" } ], "type": "nucleotide" }