{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354650233",
  "communityStandardTitle": [
    "NM_000532.5(PCCB):c.1582C>T (p.Gln528Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1448675[alleleid]",
        "alleleId": 1448675,
        "preferredName": "NM_000532.5(PCCB):c.1582C>T (p.Gln528Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1438951",
        "RCV": [
          "RCV001949114"
        ],
        "variationId": 1438951
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136048830C>T?assembly=hg19",
        "id": "chr3:g.136048830C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.136329988C>T?assembly=hg38",
        "id": "chr3:g.136329988C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1935482553",
        "rs": 1935482553
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 136329988,
          "referenceAllele": "C",
          "start": 136329987
        }
      ],
      "hgvs": [
        "NC_000003.12:g.136329988C>T",
        "CM000665.2:g.136329988C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 136048830,
          "referenceAllele": "C",
          "start": 136048829
        }
      ],
      "hgvs": [
        "NC_000003.11:g.136048830C>T",
        "CM000665.1:g.136048830C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 137531520,
          "referenceAllele": "C",
          "start": 137531519
        }
      ],
      "hgvs": [
        "NC_000003.10:g.137531520C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84664,
          "referenceAllele": "C",
          "start": 84663
        }
      ],
      "hgvs": [
        "NG_008939.1:g.84664C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001317"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1618,
          "referenceAllele": "C",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.9:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Gln528Ter",
        "hgvsWellDefined": "ENSP00000251654.4:p.Gln528_Leu539delinsArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741494",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.1582C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.1582C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Gln528Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Gln528Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000251654.8:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251654.4:p.Gln528Ter",
        "hgvsWellDefined": "ENSP00000251654.4:p.Gln528_Leu539delinsArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1534,
          "referenceAllele": "C",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000462637.5:c.1513C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420391.1:p.Gln505Ter",
        "hgvsWellDefined": "ENSP00000420391.1:p.Gln505_Leu516delinsArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000466072.5:c.1642C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420158.1:p.Gln548Ter",
        "hgvsWellDefined": "ENSP00000420158.1:p.Gln548_Leu559delinsArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000468777.5:c.1675C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419129.1:p.Gln559Ter",
        "hgvsWellDefined": "ENSP00000419129.1:p.Gln559_Leu570delinsArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1659,
          "referenceAllele": "C",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000469217.5:c.1642C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419027.1:p.Gln548Ter",
        "hgvsWellDefined": "ENSP00000419027.1:p.Gln548_Leu559delinsArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1596,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1596,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000471595.5:c.1578+4C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417549.1:n.1578+4C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1783,
          "referenceAllele": "C",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000473073.1:n.1783C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 885,
          "endIntronDirection": "-",
          "endIntronOffset": 4291,
          "referenceAllele": "C",
          "start": 885,
          "startIntronDirection": "-",
          "startIntronOffset": 4292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000478469.5:c.885-4292C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420759.1:n.885-4292C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000482086.5:c.1234C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417253.1:p.Gln412Ter",
        "hgvsWellDefined": "ENSP00000417253.1:p.Gln412_Leu423delinsArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000483687.5:c.1525C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420639.1:p.Gln509Ter",
        "hgvsWellDefined": "ENSP00000420639.1:p.Gln509_Leu520delinsArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1502,
          "referenceAllele": "C",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000484181.5:c.*263C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417937.1:n.*263C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1432,
          "referenceAllele": "C",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "ENST00000490504.5:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418307.1:p.Gln471Ter",
        "hgvsWellDefined": "ENSP00000418307.1:p.Gln471_Leu482delinsArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188225",
      "coordinates": [
        {
          "allele": "T",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.4:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Gln528Ter",
        "hgvsWellDefined": "NP_000523.2:p.Gln528_Leu539delinsArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573185261",
      "coordinates": [
        {
          "allele": "T",
          "end": 1693,
          "referenceAllele": "C",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.1:c.1642C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Gln548Ter",
        "hgvsWellDefined": "NP_001171485.1:p.Gln548_Leu559delinsArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015808"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188225",
      "coordinates": [
        {
          "allele": "T",
          "end": 1618,
          "referenceAllele": "C",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.5:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Gln528Ter",
        "hgvsWellDefined": "NP_000523.2:p.Gln528_Leu539delinsArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.1582C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.1582C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Gln528Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Gln528Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573185261",
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "C",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.2:c.1642C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Gln548Ter",
        "hgvsWellDefined": "NP_001171485.1:p.Gln548_Leu559delinsArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713549"
    }
  ],
  "type": "nucleotide"
}