{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3182733621",
  "communityStandardTitle": [
    "NM_001876.4(CPT1A):c.222C= (p.Tyr74=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123654",
        "rs": 398123654
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68812496,
          "referenceAllele": "G",
          "start": 68812495
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68812496G=",
        "CM000673.2:g.68812496G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68579964,
          "referenceAllele": "G",
          "start": 68579963
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68579964G=",
        "CM000673.1:g.68579964G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 68336540,
          "referenceAllele": "G",
          "start": 68336539
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68336540G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34436,
          "referenceAllele": "C",
          "start": 34435
        }
      ],
      "hgvs": [
        "NG_011801.1:g.34436C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001982"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000265641.10:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265641.4:p.Tyr74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265641.10:c.222C="
          },
          "RefSeq": {
            "hgvs": "NM_001876.4:c.222C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265641.4:p.Tyr74="
          },
          "RefSeq": {
            "hgvs": "NP_001867.2:p.Tyr74="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000265641.9:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265641.4:p.Tyr74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000376618.6:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365803.2:p.Tyr74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271241"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000539743.5:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446108.1:p.Tyr74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362030"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000540367.5:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439084.1:p.Tyr74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 501,
          "referenceAllele": "C",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000561996.1:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457663.1:p.Tyr74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 329,
          "referenceAllele": "C",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000565318.5:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457826.1:p.Tyr74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000569129.5:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455116.1:p.Tyr74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381258"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825357678",
      "coordinates": [
        {
          "allele": "C",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001031847.2:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001027017.1:p.Tyr74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829352928",
      "coordinates": [
        {
          "allele": "C",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001876.3:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001867.2:p.Tyr74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273762.1:c.318C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273819.1:p.Tyr106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273763.1:c.318C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273820.1:p.Tyr106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273762.3:c.318C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273819.1:p.Tyr106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 501,
          "referenceAllele": "C",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_017017220.1:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016872709.1:p.Tyr74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829352928",
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001876.4:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001867.2:p.Tyr74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265641.10:c.222C="
          },
          "RefSeq": {
            "hgvs": "NM_001876.4:c.222C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265641.4:p.Tyr74="
          },
          "RefSeq": {
            "hgvs": "NP_001867.2:p.Tyr74="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825357678",
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001031847.3:c.222C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001027017.1:p.Tyr74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711494"
    }
  ],
  "type": "nucleotide"
}