{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA354739373", "communityStandardTitle": [ "NM_000532.5(PCCB):c.415C>T (p.Gln139Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2836395[alleleid]", "alleleId": 2836395, "preferredName": "NM_000532.5(PCCB):c.415C>T (p.Gln139Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2677519", "RCV": [ "RCV003463231" ], "variationId": 2677519 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.135979363C>T?assembly=hg19", "id": "chr3:g.135979363C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.136260521C>T?assembly=hg38", "id": "chr3:g.136260521C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1191525733", "rs": 1191525733 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-136260521-C-T?dataset=gnomad_r4", 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"start": 15196 } ], "hgvs": [ "NG_008939.1:g.15197C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001317" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000251654.9:c.415C>T" ], "proteinEffect": { "hgvs": "ENSP00000251654.4:p.Gln139Ter", "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.415C>T" }, "RefSeq": { "hgvs": "NM_000532.5:c.415C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251654.4:p.Gln139Ter" }, "RefSeq": { "hgvs": "NP_000523.2:p.Gln139Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 485, "referenceAllele": "C", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000251654.8:c.415C>T" ], "proteinEffect": { "hgvs": "ENSP00000251654.4:p.Gln139Ter", "hgvsWellDefined": "ENSP00000251654.4:p.Gln139_Leu539delinsLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249758" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000459873.1:c.166C>T" ], "proteinEffect": { "hgvs": "ENSP00000419293.1:p.Gln56Ter", "hgvsWellDefined": "ENSP00000419293.1:p.Gln56_Val134del" }, "referenceSequence": "http://reg.genome.network/refseq/RS304743" }, { "coordinates": [ { "allele": "T", "end": 282, "referenceAllele": "C", "start": 281 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000462542.5:c.282C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS306770" }, { "coordinates": [ { "allele": "T", "end": 367, "referenceAllele": "C", "start": 366 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000462637.5:c.346C>T" ], "proteinEffect": { "hgvs": "ENSP00000420391.1:p.Gln116Ter", "hgvsWellDefined": "ENSP00000420391.1:p.Gln116_Leu516delinsLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS306841" }, { "coordinates": [ { "allele": "T", "end": 377, "referenceAllele": "C", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000465176.5:n.377C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308837" }, { "coordinates": [ { "allele": "T", "end": 509, "referenceAllele": "C", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000465423.5:c.502C>T" ], "proteinEffect": { "hgvs": "ENSP00000419263.1:p.Gln168Ter", "hgvsWellDefined": "ENSP00000419263.1:p.Gln168_Gly192del" }, "referenceSequence": "http://reg.genome.network/refseq/RS309030" }, { "coordinates": [ { "allele": "T", "end": 436, "referenceAllele": "C", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ 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"ENSP00000420158.1:p.Gln139_Leu559delinsLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS309530" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000468777.5:c.508C>T" ], "proteinEffect": { "hgvs": "ENSP00000419129.1:p.Gln170Ter", "hgvsWellDefined": "ENSP00000419129.1:p.Gln170_Leu570delinsLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS311613" }, { "coordinates": [ { "allele": "T", "end": 492, "referenceAllele": "C", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000469217.5:c.475C>T" ], "proteinEffect": { "hgvs": "ENSP00000419027.1:p.Gln159Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS311954" }, { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000471595.5:c.415C>T" ], "proteinEffect": { "hgvs": "ENSP00000417549.1:p.Gln139Ter", "hgvsWellDefined": 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"ENSP00000417937.1:p.Gln139_Leu405delinsLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyLeuTrpArgCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323492" }, { "coordinates": [ { "allele": "T", "end": 393, "endIntronDirection": "+", "endIntronOffset": 3898, "referenceAllele": "C", "start": 393, "startIntronDirection": "+", "startIntronOffset": 3897 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000490504.5:c.372+3898C>T" ], "proteinEffect": { "hgvs": "ENSP00000418307.1:n.372+3898C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS328307" }, { "coordinates": [ { "allele": "T", "end": 459, "referenceAllele": "C", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000494742.5:c.166C>T" ], "proteinEffect": { "hgvs": "ENSP00000418020.1:p.Gln56Ter", "hgvsWellDefined": "ENSP00000418020.1:p.Gln56Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS331597" }, { "@id": "http://reg.genome.network/allele/PA2825187336", "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_000532.4:c.415C>T" ], "proteinEffect": { "hgvs": "NP_000523.2:p.Gln139Ter", "hgvsWellDefined": "NP_000523.2:p.Gln139_Leu539delinsLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006590" }, { "@id": "http://reg.genome.network/allele/PA2741844348", "coordinates": [ { "allele": "T", "end": 526, "referenceAllele": "C", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_001178014.1:c.475C>T" ], "proteinEffect": { "hgvs": "NP_001171485.1:p.Gln159Ter", "hgvsWellDefined": "NP_001171485.1:p.Gln159_Leu559delinsLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015808" }, { "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.1:c.415C>T" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Gln139Ter", "hgvsWellDefined": "XP_011511175.1:p.Gln139_Pro387delinsLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080128" }, { "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.2:c.415C>T" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Gln139Ter", "hgvsWellDefined": "XP_011511175.1:p.Gln139_Pro387delinsLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542709" }, { "@id": "http://reg.genome.network/allele/PA2825187336", "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_000532.5:c.415C>T" ], "proteinEffect": { "hgvs": "NP_000523.2:p.Gln139Ter", "hgvsWellDefined": "NP_000523.2:p.Gln139_Leu539delinsLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662476", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251654.9:c.415C>T" }, "RefSeq": { "hgvs": "NM_000532.5:c.415C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251654.4:p.Gln139Ter" }, "RefSeq": { "hgvs": "NP_000523.2:p.Gln139Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741844348", "coordinates": [ { "allele": "T", "end": 511, "referenceAllele": "C", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_001178014.2:c.475C>T" ], "proteinEffect": { "hgvs": "NP_001171485.1:p.Gln159Ter", "hgvsWellDefined": "NP_001171485.1:p.Gln159_Leu559delinsLysIleCysLysIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713549" } ], "type": "nucleotide" }