{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA354738762", "communityStandardTitle": [ "NM_000532.5(PCCB):c.365T>C (p.Phe122Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=625839[alleleid]", "alleleId": 625839, "preferredName": "NM_000532.5(PCCB):c.365T>C (p.Phe122Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/638034", "RCV": [ "RCV000790497" ], "variationId": 638034 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.135975458T>C?assembly=hg19", "id": "chr3:g.135975458T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.136256616T>C?assembly=hg38", "id": "chr3:g.136256616T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1576402832", "rs": 1576402832 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 136256616, "referenceAllele": "T", "start": 136256615 } ], "hgvs": [ "NC_000003.12:g.136256616T>C", "CM000665.2:g.136256616T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 135975458, "referenceAllele": "T", "start": 135975457 } ], "hgvs": [ "NC_000003.11:g.135975458T>C", "CM000665.1:g.135975458T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "C", "end": 137458148, "referenceAllele": "T", "start": 137458147 } ], "hgvs": [ "NC_000003.10:g.137458148T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "C", "end": 11292, "referenceAllele": "T", "start": 11291 } ], "hgvs": [ "NG_008939.1:g.11292T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001317" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 401, "referenceAllele": "T", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000251654.9:c.365T>C" ], "proteinEffect": { "hgvs": "ENSP00000251654.4:p.Phe122Ser", "hgvsWellDefined": "ENSP00000251654.4:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS741494", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251654.9:c.365T>C" }, "RefSeq": { "hgvs": "NM_000532.5:c.365T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251654.4:p.Phe122Ser" }, "RefSeq": { "hgvs": "NP_000523.2:p.Phe122Ser" } } } }, { "coordinates": [ { "allele": "C", "end": 435, "referenceAllele": "T", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000251654.8:c.365T>C" ], "proteinEffect": { "hgvs": "ENSP00000251654.4:p.Phe122Ser", "hgvsWellDefined": "ENSP00000251654.4:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS249758" }, { "coordinates": [ { "allele": "C", "end": 249, "referenceAllele": "T", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000459873.1:c.116T>C" ], "proteinEffect": { "hgvs": "ENSP00000419293.1:p.Phe39Ser", "hgvsWellDefined": "ENSP00000419293.1:p.Phe39Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS304743" }, { "coordinates": [ { "allele": "C", "end": 232, "referenceAllele": "T", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000462542.5:c.232T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS306770" }, { "coordinates": [ { "allele": "C", "end": 324, "endIntronDirection": "+", "endIntronOffset": 641, "referenceAllele": "T", "start": 324, "startIntronDirection": "+", "startIntronOffset": 640 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000462637.5:c.303+641T>C" ], "proteinEffect": { "hgvs": "ENSP00000420391.1:n.303+641T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS306841" }, { "coordinates": [ { "allele": "C", "end": 327, "referenceAllele": "T", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000465176.5:n.327T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS308837" }, { "coordinates": [ { "allele": "C", "end": 459, "referenceAllele": "T", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000465423.5:c.452T>C" ], "proteinEffect": { "hgvs": "ENSP00000419263.1:p.Phe151Ser", "hgvsWellDefined": "ENSP00000419263.1:p.Phe151Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS309030" }, { "coordinates": [ { "allele": "C", "end": 386, "referenceAllele": "T", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000466072.5:c.365T>C" ], "proteinEffect": { "hgvs": "ENSP00000420158.1:p.Phe122Ser", "hgvsWellDefined": "ENSP00000420158.1:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS309530" }, { "coordinates": [ { "allele": "C", "end": 386, "referenceAllele": "T", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000468777.5:c.365T>C" ], "proteinEffect": { "hgvs": "ENSP00000419129.1:p.Phe122Ser", "hgvsWellDefined": "ENSP00000419129.1:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS311613" }, { "coordinates": [ { "allele": "C", "end": 382, "referenceAllele": "T", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000469217.5:c.365T>C" ], "proteinEffect": { "hgvs": "ENSP00000419027.1:p.Phe122Ser", "hgvsWellDefined": "ENSP00000419027.1:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS311954" }, { "coordinates": [ { "allele": "C", "end": 383, "referenceAllele": "T", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000471595.5:c.365T>C" ], "proteinEffect": { "hgvs": "ENSP00000417549.1:p.Phe122Ser", "hgvsWellDefined": "ENSP00000417549.1:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS313756" }, { "coordinates": [ { "allele": "C", "end": 168, "endIntronDirection": "+", "endIntronOffset": 6058, "referenceAllele": "T", "start": 168, "startIntronDirection": "+", "startIntronOffset": 6057 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000474833.5:n.168+6058T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS316247" }, { "coordinates": [ { "allele": "C", "end": 279, "referenceAllele": "T", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000475214.5:n.279T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS316544" }, { "coordinates": [ { "allele": "C", "end": 366, "referenceAllele": "T", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000478469.5:c.365T>C" ], "proteinEffect": { "hgvs": "ENSP00000420759.1:p.Phe122Ser", "hgvsWellDefined": "ENSP00000420759.1:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS319072" }, { "coordinates": [ { "allele": "C", "end": 114, "endIntronDirection": "-", "endIntronOffset": 5347, "referenceAllele": "T", "start": 114, "startIntronDirection": "-", "startIntronOffset": 5348 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000482086.5:c.94-5348T>C" ], "proteinEffect": { "hgvs": "ENSP00000417253.1:n.94-5348T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS321866" }, { "coordinates": [ { "allele": "C", "end": 386, "referenceAllele": "T", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000483687.5:c.365T>C" ], "proteinEffect": { "hgvs": "ENSP00000420639.1:p.Phe122Ser", "hgvsWellDefined": "ENSP00000420639.1:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS323097" }, { "coordinates": [ { "allele": "C", "end": 386, "referenceAllele": "T", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000484181.5:c.365T>C" ], "proteinEffect": { "hgvs": "ENSP00000417937.1:p.Phe122Ser", "hgvsWellDefined": "ENSP00000417937.1:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS323492" }, { "coordinates": [ { "allele": "C", "end": 386, "referenceAllele": "T", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000490504.5:c.365T>C" ], "proteinEffect": { "hgvs": "ENSP00000418307.1:p.Phe122Ser", "hgvsWellDefined": "ENSP00000418307.1:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS328307" }, { "coordinates": [ { "allele": "C", "end": 409, "referenceAllele": "T", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "ENST00000494742.5:c.116T>C" ], "proteinEffect": { "hgvs": "ENSP00000418020.1:p.Phe39Ser", "hgvsWellDefined": "ENSP00000418020.1:p.Phe39Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS331597" }, { "@id": "http://reg.genome.network/allele/PA2825187275", "coordinates": [ { "allele": "C", "end": 416, "referenceAllele": "T", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_000532.4:c.365T>C" ], "proteinEffect": { "hgvs": "NP_000523.2:p.Phe122Ser", "hgvsWellDefined": "NP_000523.2:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006590" }, { "@id": "http://reg.genome.network/allele/PA915994199", "coordinates": [ { "allele": "C", "end": 416, "referenceAllele": "T", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_001178014.1:c.365T>C" ], "proteinEffect": { "hgvs": "NP_001171485.1:p.Phe122Ser", "hgvsWellDefined": "NP_001171485.1:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS015808" }, { "coordinates": [ { "allele": "C", "end": 416, "referenceAllele": "T", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.1:c.365T>C" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Phe122Ser", "hgvsWellDefined": "XP_011511175.1:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS080128" }, { "coordinates": [ { "allele": "C", "end": 401, "referenceAllele": "T", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "XM_011512873.2:c.365T>C" ], "proteinEffect": { "hgvs": "XP_011511175.1:p.Phe122Ser", "hgvsWellDefined": "XP_011511175.1:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS542709" }, { "@id": "http://reg.genome.network/allele/PA2825187275", "coordinates": [ { "allele": "C", "end": 401, "referenceAllele": "T", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_000532.5:c.365T>C" ], "proteinEffect": { "hgvs": "NP_000523.2:p.Phe122Ser", "hgvsWellDefined": "NP_000523.2:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS662476", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251654.9:c.365T>C" }, "RefSeq": { "hgvs": "NM_000532.5:c.365T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251654.4:p.Phe122Ser" }, "RefSeq": { "hgvs": "NP_000523.2:p.Phe122Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA915994199", "coordinates": [ { "allele": "C", "end": 401, "referenceAllele": "T", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN008654", "geneNCBI_id": 5096, "geneSymbol": "PCCB", "hgvs": [ "NM_001178014.2:c.365T>C" ], "proteinEffect": { "hgvs": "NP_001171485.1:p.Phe122Ser", "hgvsWellDefined": "NP_001171485.1:p.Phe122Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS713549" } ], "type": "nucleotide" }