{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140886538",
  "communityStandardTitle": [
    "NM_000098.3(CPT2):c.1342T= (p.Phe448=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315297",
        "rs": 74315297
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 53211016,
          "referenceAllele": "T",
          "start": 53211015
        }
      ],
      "hgvs": [
        "NC_000001.11:g.53211016T=",
        "CM000663.2:g.53211016T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 53676688,
          "referenceAllele": "T",
          "start": 53676687
        }
      ],
      "hgvs": [
        "NC_000001.10:g.53676688T=",
        "CM000663.1:g.53676688T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 53449276,
          "referenceAllele": "T",
          "start": 53449275
        }
      ],
      "hgvs": [
        "NC_000001.9:g.53449276T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19588,
          "referenceAllele": "T",
          "start": 19587
        }
      ],
      "hgvs": [
        "NG_008035.1:g.19588T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000792"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "T",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000371486.4:c.1342T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360541.3:p.Phe448="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371486.4:c.1342T="
          },
          "RefSeq": {
            "hgvs": "NM_000098.3:c.1342T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360541.3:p.Phe448="
          },
          "RefSeq": {
            "hgvs": "NP_000089.1:p.Phe448="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1466,
          "referenceAllele": "T",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000635862.1:c.1342T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490867.1:p.Phe448="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1671,
          "referenceAllele": "T",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000635888.1:c.*1328T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490042.1:n.*1328T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1379,
          "referenceAllele": "T",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000636239.1:c.*989T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490066.1:n.*989T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1494,
          "referenceAllele": "T",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000636867.1:c.1342T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489631.1:p.Phe448="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1486,
          "referenceAllele": "T",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000636891.1:c.1342T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490399.1:p.Phe448="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "endIntronDirection": "-",
          "endIntronOffset": 2247,
          "referenceAllele": "T",
          "start": 471,
          "startIntronDirection": "-",
          "startIntronOffset": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000636935.1:c.341-2248T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489757.1:n.341-2248T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1486,
          "referenceAllele": "T",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000637252.1:c.1342T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490492.1:p.Phe448="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3542,
          "referenceAllele": "T",
          "start": 3541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000637726.1:n.3542T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "T",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000638135.1:c.*989T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489756.1:n.*989T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1857,
          "referenceAllele": "T",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000371486.3:c.1342T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360541.3:p.Phe448="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063900205",
      "coordinates": [
        {
          "allele": "T",
          "end": 1857,
          "referenceAllele": "T",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "NM_000098.2:c.1342T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000089.1:p.Phe448="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1525,
          "referenceAllele": "T",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "XM_005270484.1:c.1342T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005270541.1:p.Phe448="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066550"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1857,
          "referenceAllele": "T",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "NM_001330589.1:c.1342T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317518.1:p.Phe448="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063900205",
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "T",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "NM_000098.3:c.1342T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000089.1:p.Phe448="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662314",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371486.4:c.1342T="
          },
          "RefSeq": {
            "hgvs": "NM_000098.3:c.1342T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360541.3:p.Phe448="
          },
          "RefSeq": {
            "hgvs": "NP_000089.1:p.Phe448="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "T",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "NM_001330589.2:c.1342T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317518.1:p.Phe448="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687019"
    }
  ],
  "type": "nucleotide"
}