{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA354739416", "communityStandardTitle": [ "NM_000532.5(PCCB):c.427A>T (p.Lys143Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2916648[alleleid]", "alleleId": 2916648, "preferredName": "NM_000532.5(PCCB):c.427A>T (p.Lys143Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2754180", "RCV": [ "RCV003511807" ], "variationId": 2754180 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.135979375A>T?assembly=hg19", "id": "chr3:g.135979375A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.136260533A>T?assembly=hg38", "id": "chr3:g.136260533A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2108144496", "rs": 2108144496 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-136260533-A-T?dataset=gnomad_r4", "id": "3-136260533-A-T", "variant": "3:136260533 A / T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 136260533, "referenceAllele": "A", "start": 136260532 } ], "hgvs": [ "NC_000003.12:g.136260533A>T", "CM000665.2:g.136260533A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 135979375, "referenceAllele": "A", "start": 135979374 } ], "hgvs": [ "NC_000003.11:g.135979375A>T", "CM000665.1:g.135979375A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 137462065, "referenceAllele": "A", "start": 137462064 } ], "hgvs": [ "NC_000003.10:g.137462065A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 15209, "referenceAllele": "A", "start": 15208 } ], "hgvs": [ "NG_008939.1:g.15209A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001317" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "A", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000251654.9:c.427A>T" ], "proteinEffect": { "hgvs": "ENSP00000251654.4:p.Lys143Ter", "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.427A>T" }, "RefSeq": { "hgvs": "NM_000532.5:c.427A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251654.4:p.Lys143Ter" }, "RefSeq": { "hgvs": "NP_000523.2:p.Lys143Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 497, "referenceAllele": "A", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000251654.8:c.427A>T" ], "proteinEffect": { "hgvs": "ENSP00000251654.4:p.Lys143Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS249758" }, { "coordinates": [ { "allele": "T", "end": 311, "referenceAllele": "A", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000459873.1:c.178A>T" ], "proteinEffect": { "hgvs": "ENSP00000419293.1:p.Lys60Ter", "hgvsWellDefined": "ENSP00000419293.1:p.Lys60_Val134del" }, "referenceSequence": "http://reg.genome.network/refseq/RS304743" }, { "coordinates": [ { "allele": "T", "end": 294, "referenceAllele": "A", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000462542.5:c.294A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS306770" }, { "coordinates": [ { "allele": "T", "end": 379, "referenceAllele": "A", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000462637.5:c.358A>T" ], "proteinEffect": { "hgvs": "ENSP00000420391.1:p.Lys120Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS306841" }, { "coordinates": [ { "allele": "T", "end": 389, "referenceAllele": "A", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000465176.5:n.389A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308837" }, { "coordinates": [ { "allele": "T", "end": 521, "referenceAllele": "A", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000465423.5:c.514A>T" ], "proteinEffect": { "hgvs": "ENSP00000419263.1:p.Lys172Ter", "hgvsWellDefined": "ENSP00000419263.1:p.Lys172_Gly192del" }, "referenceSequence": "http://reg.genome.network/refseq/RS309030" }, { "coordinates": [ { "allele": "T", "end": 448, "referenceAllele": "A", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000466072.5:c.427A>T" ], "proteinEffect": { "hgvs": "ENSP00000420158.1:p.Lys143Ter", "hgvsWellDefined": "ENSP00000420158.1:p.Lys143_Leu559delinsIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS309530" }, { "coordinates": [ { "allele": "T", "end": 541, "referenceAllele": "A", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000468777.5:c.520A>T" ], "proteinEffect": { "hgvs": "ENSP00000419129.1:p.Lys174Ter", "hgvsWellDefined": "ENSP00000419129.1:p.Lys174_Leu570delinsIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS311613" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "A", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000469217.5:c.487A>T" ], "proteinEffect": { "hgvs": "ENSP00000419027.1:p.Lys163Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS311954" }, { "coordinates": [ { "allele": "T", "end": 445, "referenceAllele": "A", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000471595.5:c.427A>T" ], "proteinEffect": { "hgvs": "ENSP00000417549.1:p.Lys143Ter", "hgvsWellDefined": 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"ENSP00000417937.1:p.Lys143_Leu405delinsIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyLeuTrpArgCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS323492" }, { "coordinates": [ { "allele": "T", "end": 393, "endIntronDirection": "+", "endIntronOffset": 3910, "referenceAllele": "A", "start": 393, "startIntronDirection": "+", "startIntronOffset": 3909 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000490504.5:c.372+3910A>T" ], "proteinEffect": { "hgvs": "ENSP00000418307.1:n.372+3910A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS328307" }, { "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "A", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000494742.5:c.178A>T" ], "proteinEffect": { "hgvs": "ENSP00000418020.1:p.Lys60Ter", "hgvsWellDefined": "ENSP00000418020.1:p.Lys60Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS331597" }, { "@id": "http://reg.genome.network/allele/PA2825187341", "coordinates": [ { "allele": "T", "end": 478, "referenceAllele": "A", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_000532.4:c.427A>T" ], "proteinEffect": { "hgvs": "NP_000523.2:p.Lys143Ter", "hgvsWellDefined": "NP_000523.2:p.Lys143_Leu539delinsIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006590" }, { "@id": "http://reg.genome.network/allele/PA2741844349", "coordinates": [ { "allele": "T", "end": 538, "referenceAllele": "A", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_001178014.1:c.487A>T" ], "proteinEffect": { "hgvs": "NP_001171485.1:p.Lys163Ter", "hgvsWellDefined": "NP_001171485.1:p.Lys163_Leu559delinsIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015808" }, { "coordinates": [ { "allele": "T", "end": 478, "referenceAllele": "A", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.1:c.427A>T" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Lys143Ter", "hgvsWellDefined": "XP_011511175.1:p.Lys143_Pro387delinsIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080128" }, { "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "A", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.2:c.427A>T" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Lys143Ter", "hgvsWellDefined": "XP_011511175.1:p.Lys143_Pro387delinsIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542709" }, { "@id": "http://reg.genome.network/allele/PA2825187341", "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "A", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_000532.5:c.427A>T" ], "proteinEffect": { "hgvs": "NP_000523.2:p.Lys143Ter", "hgvsWellDefined": "NP_000523.2:p.Lys143_Leu539delinsIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662476", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251654.9:c.427A>T" }, "RefSeq": { "hgvs": "NM_000532.5:c.427A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251654.4:p.Lys143Ter" }, "RefSeq": { "hgvs": "NP_000523.2:p.Lys143Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741844349", "coordinates": [ { "allele": "T", "end": 523, "referenceAllele": "A", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_001178014.2:c.487A>T" ], "proteinEffect": { "hgvs": "NP_001171485.1:p.Lys163Ter", "hgvsWellDefined": "NP_001171485.1:p.Lys163_Leu559delinsIleMetAspGlnAlaIleThrValGlyAlaProValIleGlyLeuAsnAspSerGlyGlyAlaArgIleGlnGluGlyValGluSerLeuAlaGlyTyrAlaAspIlePheLeuArgAsnValThrAlaSerGlyValIleProGlnIleSerLeuIleMetGlyProCysAlaGlyGlyAlaValTyrSerProAlaLeuThrAspPheThrPheMetValLysAspThrSerTyrLeuPheIleThrGlyProAspValValLysSerValThrAsnGluAspValThrGlnGluGluLeuGlyGlyAlaLysThrHisThrThrMetSerGlyValAlaHisArgAlaPheGluAsnAspValAspAlaLeuCysAsnLeuArgAspPhePheAsnTyrLeuProLeuSerSerGlnAspProAlaProValArgGluCysHisAspProSerAspArgLeuValProGluLeuAspThrIleValProLeuGluSerThrLysAlaTyrAsnMetValAspIleIleHisSerValValAspGluArgGluPhePheGluIleMetProAsnTyrAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713549" } ], "type": "nucleotide" }