{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340397868",
  "communityStandardTitle": [
    "NM_000098.3(CPT2):c.1891C>G (p.Arg631Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.53679181C>G?assembly=hg19",
        "id": "chr1:g.53679181C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.53213509C>G?assembly=hg38",
        "id": "chr1:g.53213509C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315293",
        "rs": 74315293
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-53213509-C-G?dataset=gnomad_r4",
        "id": "1-53213509-C-G",
        "variant": "1:53213509 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 53213509,
          "referenceAllele": "C",
          "start": 53213508
        }
      ],
      "hgvs": [
        "NC_000001.11:g.53213509C>G",
        "CM000663.2:g.53213509C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 53679181,
          "referenceAllele": "C",
          "start": 53679180
        }
      ],
      "hgvs": [
        "NC_000001.10:g.53679181C>G",
        "CM000663.1:g.53679181C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 53451769,
          "referenceAllele": "C",
          "start": 53451768
        }
      ],
      "hgvs": [
        "NC_000001.9:g.53451769C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22081,
          "referenceAllele": "C",
          "start": 22080
        }
      ],
      "hgvs": [
        "NG_008035.1:g.22081C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000792"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2011,
          "referenceAllele": "C",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000371486.4:c.1891C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360541.3:p.Arg631Gly",
        "hgvsWellDefined": "ENSP00000360541.3:p.Arg631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371486.4:c.1891C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000098.3:c.1891C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360541.3:p.Arg631Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000089.1:p.Arg631Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000635862.1:c.1858C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490867.1:p.Arg620Gly",
        "hgvsWellDefined": "ENSP00000490867.1:p.Arg620Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2220,
          "referenceAllele": "C",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000635888.1:c.*1877C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490042.1:n.*1877C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000636239.1:c.*1538C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490066.1:n.*1538C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1974,
          "referenceAllele": "C",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000636867.1:c.1822C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489631.1:p.Arg608Gly",
        "hgvsWellDefined": "ENSP00000489631.1:p.Arg608Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2085,
          "referenceAllele": "C",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000636891.1:c.*144C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490399.1:n.*144C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763461"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 717,
          "referenceAllele": "C",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000636935.1:c.586C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489757.1:p.Arg196Gly",
        "hgvsWellDefined": "ENSP00000489757.1:p.Arg196Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2071,
          "referenceAllele": "C",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000637252.1:c.1927C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490492.1:p.Arg643Gly",
        "hgvsWellDefined": "ENSP00000490492.1:p.Arg643Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000638135.1:c.*1538C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489756.1:n.*1538C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2406,
          "referenceAllele": "C",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "ENST00000371486.3:c.1891C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360541.3:p.Arg631Gly",
        "hgvsWellDefined": "ENSP00000360541.3:p.Arg631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063900208",
      "coordinates": [
        {
          "allele": "G",
          "end": 2406,
          "referenceAllele": "C",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "NM_000098.2:c.1891C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000089.1:p.Arg631Gly",
        "hgvsWellDefined": "NP_000089.1:p.Arg631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2005,
          "referenceAllele": "C",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "XM_005270484.1:c.1822C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270541.1:p.Arg608Gly",
        "hgvsWellDefined": "XP_005270541.1:p.Arg608Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066550"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2337,
          "referenceAllele": "C",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "NM_001330589.1:c.1822C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317518.1:p.Arg608Gly",
        "hgvsWellDefined": "NP_001317518.1:p.Arg608Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063900208",
      "coordinates": [
        {
          "allele": "G",
          "end": 2011,
          "referenceAllele": "C",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "NM_000098.3:c.1891C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000089.1:p.Arg631Gly",
        "hgvsWellDefined": "NP_000089.1:p.Arg631Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662314",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371486.4:c.1891C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000098.3:c.1891C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360541.3:p.Arg631Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000089.1:p.Arg631Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1942,
          "referenceAllele": "C",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "NM_001330589.2:c.1822C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317518.1:p.Arg608Gly",
        "hgvsWellDefined": "NP_001317518.1:p.Arg608Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687019"
    }
  ],
  "type": "nucleotide"
}