{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412397133", "communityStandardTitle": [ "NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6186391", "active": true, "id": "COSM6186391" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6186392", "active": true, "id": "COSM6186392" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6186393", "active": true, "id": "COSM6186393" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1677413[alleleid]", "alleleId": 1677413, "preferredName": "NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1685395", "RCV": [ "RCV002249122" ], "variationId": 1685395 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.19377734G>T?assembly=hg19", "id": "chrX:g.19377734G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.19359616G>T?assembly=hg38", "id": "chrX:g.19359616G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2147189334", "rs": 2147189334 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 19359616, "referenceAllele": "G", "start": 19359615 } ], "hgvs": [ "NC_000023.11:g.19359616G>T", "CM000685.2:g.19359616G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 19377734, "referenceAllele": "G", "start": 19377733 } ], "hgvs": [ "NC_000023.10:g.19377734G>T", "CM000685.1:g.19377734G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 19287655, "referenceAllele": "G", "start": 19287654 } ], "hgvs": [ "NC_000023.9:g.19287655G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 20724, "referenceAllele": "G", "start": 20723 } ], "hgvs": [ "NG_016781.1:g.20724G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003296" }, { "coordinates": [ { "allele": "A", "end": 160646, "referenceAllele": "C", "start": 160645 } ], "hgvs": [ "NG_021184.1:g.160646C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003463" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1268, "referenceAllele": "G", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000355808.10:c.1157G>T" ], "proteinEffect": { "hgvs": "ENSP00000348062.6:p.Gly386Val", "hgvsWellDefined": "ENSP00000348062.6:p.Gly386Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS904450" }, { "coordinates": [ { "allele": "T", "end": 1482, "referenceAllele": "G", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000379805.4:c.*828G>T" ], "proteinEffect": { "hgvs": "ENSP00000369133.3:n.*828G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS904563" }, { "coordinates": [ { "allele": "T", "end": 1295, "referenceAllele": "G", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000417819.6:c.1220G>T" ], "proteinEffect": { "hgvs": "ENSP00000404616.2:p.Gly407Val", "hgvsWellDefined": "ENSP00000404616.2:p.Gly407Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS904735" }, { "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "G", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000423505.6:c.1250G>T" ], "proteinEffect": { "hgvs": "ENSP00000406473.2:p.Gly417Val", "hgvsWellDefined": "ENSP00000406473.2:p.Gly417Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS904787" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "G", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000481733.2:n.931G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905286" }, { "coordinates": [ { "allele": "T", "end": 1069, "referenceAllele": "G", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000696704.1:c.*468G>T" ], "proteinEffect": { "hgvs": "ENSP00000512823.1:n.*468G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908149" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "G", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000696705.1:c.*591G>T" ], "proteinEffect": { "hgvs": "ENSP00000512824.1:n.*591G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908150" }, { "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "G", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000422285.7:c.1136G>T" ], "proteinEffect": { "hgvs": "ENSP00000394382.2:p.Gly379Val", "hgvsWellDefined": "ENSP00000394382.2:p.Gly379Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS754919", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000422285.7:c.1136G>T" }, "RefSeq": { "hgvs": "NM_000284.4:c.1136G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394382.2:p.Gly379Val" }, "RefSeq": { "hgvs": "NP_000275.1:p.Gly379Val" } } } }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000379804.1:c.293G>T" ], "proteinEffect": { "hgvs": "ENSP00000369132.1:p.Gly98Val", "hgvsWellDefined": "ENSP00000369132.1:p.Gly98Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS272648" }, { "coordinates": [ { "allele": "T", "end": 1395, "referenceAllele": "G", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000379806.9:c.1250G>T" ], "proteinEffect": { "hgvs": "ENSP00000369134.5:p.Gly417Val", "hgvsWellDefined": "ENSP00000369134.5:p.Gly417Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS272650" }, { "coordinates": [ { "allele": "T", "end": 1241, "referenceAllele": "G", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000422285.6:c.1136G>T" ], "proteinEffect": { "hgvs": "ENSP00000394382.2:p.Gly379Val", "hgvsWellDefined": "ENSP00000394382.2:p.Gly379Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS287199" }, { "coordinates": [ { "allele": "T", "end": 575, "referenceAllele": "G", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000478795.1:n.575G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS319319" }, { "coordinates": [ { "allele": "T", "end": 1188, "referenceAllele": "G", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000540249.5:c.1043G>T" ], "proteinEffect": { "hgvs": "ENSP00000440761.1:p.Gly348Val", "hgvsWellDefined": "ENSP00000440761.1:p.Gly348Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS362301" }, { "coordinates": [ { "allele": "T", "end": 1302, "referenceAllele": "G", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "ENST00000545074.5:c.1157G>T" ], "proteinEffect": { "hgvs": "ENSP00000438550.1:p.Gly386Val", "hgvsWellDefined": "ENSP00000438550.1:p.Gly386Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS364913" }, { "@id": "http://reg.genome.network/allele/PA2825140364", "coordinates": [ { "allele": "T", "end": 1281, "referenceAllele": "G", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_000284.3:c.1136G>T" ], "proteinEffect": { "hgvs": "NP_000275.1:p.Gly379Val", "hgvsWellDefined": "NP_000275.1:p.Gly379Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS006345" }, { "@id": "http://reg.genome.network/allele/PA2573186187", "coordinates": [ { "allele": "T", "end": 1395, "referenceAllele": "G", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_001173454.1:c.1250G>T" ], "proteinEffect": { "hgvs": "NP_001166925.1:p.Gly417Val", "hgvsWellDefined": "NP_001166925.1:p.Gly417Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS015584" }, { "@id": "http://reg.genome.network/allele/PA2826088615", "coordinates": [ { "allele": "T", "end": 1302, "referenceAllele": "G", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_001173455.1:c.1157G>T" ], "proteinEffect": { "hgvs": "NP_001166926.1:p.Gly386Val", "hgvsWellDefined": "NP_001166926.1:p.Gly386Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS015585" }, { "@id": "http://reg.genome.network/allele/PA2826089184", "coordinates": [ { "allele": "T", "end": 1188, "referenceAllele": "G", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_001173456.1:c.1043G>T" ], "proteinEffect": { "hgvs": "NP_001166927.1:p.Gly348Val", "hgvsWellDefined": "NP_001166927.1:p.Gly348Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS015586" }, { "coordinates": [ { "allele": "T", "end": 1403, "referenceAllele": "G", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "XM_011545531.1:c.1271G>T" ], "proteinEffect": { "hgvs": "XP_011543833.1:p.Gly424Val", "hgvsWellDefined": "XP_011543833.1:p.Gly424Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS112431" }, { "coordinates": [ { "allele": "T", "end": 1310, "referenceAllele": "G", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "XM_011545532.1:c.1178G>T" ], "proteinEffect": { "hgvs": "XP_011543834.1:p.Gly393Val", "hgvsWellDefined": "XP_011543834.1:p.Gly393Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS112432" }, { "coordinates": [ { "allele": "T", "end": 1289, "referenceAllele": "G", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "XM_017029574.2:c.1157G>T" ], "proteinEffect": { "hgvs": "XP_016885063.1:p.Gly386Val", "hgvsWellDefined": "XP_016885063.1:p.Gly386Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS579092" }, { "@id": "http://reg.genome.network/allele/PA2825140364", "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "G", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_000284.4:c.1136G>T" ], "proteinEffect": { "hgvs": "NP_000275.1:p.Gly379Val", "hgvsWellDefined": "NP_000275.1:p.Gly379Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS674774", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000422285.7:c.1136G>T" }, "RefSeq": { "hgvs": "NM_000284.4:c.1136G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394382.2:p.Gly379Val" }, "RefSeq": { "hgvs": "NP_000275.1:p.Gly379Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2573186187", "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "G", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_001173454.2:c.1250G>T" ], "proteinEffect": { "hgvs": "NP_001166925.1:p.Gly417Val", "hgvsWellDefined": "NP_001166925.1:p.Gly417Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS713471" }, { "@id": "http://reg.genome.network/allele/PA2826088615", "coordinates": [ { "allele": "T", "end": 1268, "referenceAllele": "G", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_001173455.2:c.1157G>T" ], "proteinEffect": { "hgvs": "NP_001166926.1:p.Gly386Val", "hgvsWellDefined": "NP_001166926.1:p.Gly386Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS713472" }, { "@id": "http://reg.genome.network/allele/PA2826089184", "coordinates": [ { "allele": "T", "end": 1154, "referenceAllele": "G", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN008806", "geneNCBI_id": 5160, "geneSymbol": "PDHA1", "hgvs": [ "NM_001173456.2:c.1043G>T" ], "proteinEffect": { "hgvs": "NP_001166927.1:p.Gly348Val", "hgvsWellDefined": "NP_001166927.1:p.Gly348Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS713473" } ], "type": "nucleotide" }