{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6152513",
  "communityStandardTitle": [
    "NM_001876.4(CPT1A):c.817G>A (p.Gly273Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5839435",
        "active": true,
        "id": "COSM5839435"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5839436",
        "active": true,
        "id": "COSM5839436"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1880845[alleleid]",
        "alleleId": 1880845,
        "preferredName": "NM_001876.4(CPT1A):c.817G>A (p.Gly273Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2148517",
        "RCV": [
          "RCV003068842"
        ],
        "variationId": 2148517
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-68562334-C-T",
        "id": "11-68562334-C-T",
        "variant": "11:68562334 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68562334C>T?assembly=hg19",
        "id": "chr11:g.68562334C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68794866C>T?assembly=hg38",
        "id": "chr11:g.68794866C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144347513",
        "rs": 144347513
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68562334-C-T?dataset=gnomad_r2_1",
        "id": "11-68562334-C-T",
        "variant": "11:68562334 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68794866-C-T?dataset=gnomad_r3",
        "id": "11-68794866-C-T",
        "variant": "11:68794866 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-68794866-C-T?dataset=gnomad_r4",
        "id": "11-68794866-C-T",
        "variant": "11:68794866 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68794866,
          "referenceAllele": "C",
          "start": 68794865
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68794866C>T",
        "CM000673.2:g.68794866C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68562334,
          "referenceAllele": "C",
          "start": 68562333
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68562334C>T",
        "CM000673.1:g.68562334C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 68318910,
          "referenceAllele": "C",
          "start": 68318909
        }
      ],
      "hgvs": [
        "NC_000011.8:g.68318910C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 52066,
          "referenceAllele": "G",
          "start": 52065
        }
      ],
      "hgvs": [
        "NG_011801.1:g.52066G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001982"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 972,
          "referenceAllele": "G",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000265641.10:c.817G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265641.4:p.Gly273Ser",
        "hgvsWellDefined": "ENSP00000265641.4:p.Gly273Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265641.10:c.817G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001876.4:c.817G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265641.4:p.Gly273Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001867.2:p.Gly273Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 972,
          "referenceAllele": "G",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000265641.9:c.817G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265641.4:p.Gly273Ser",
        "hgvsWellDefined": "ENSP00000265641.4:p.Gly273Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000376618.6:c.817G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365803.2:p.Gly273Ser",
        "hgvsWellDefined": "ENSP00000365803.2:p.Gly273Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000538994.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454332.1:p.Gly25Ser",
        "hgvsWellDefined": "ENSP00000454332.1:p.Gly25Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361615"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000539743.5:c.817G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446108.1:p.Gly273Ser",
        "hgvsWellDefined": "ENSP00000446108.1:p.Gly273Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "ENST00000540367.5:c.817G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439084.1:p.Gly273Ser",
        "hgvsWellDefined": "ENSP00000439084.1:p.Gly273Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825357979",
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001031847.2:c.817G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027017.1:p.Gly273Ser",
        "hgvsWellDefined": "NP_001027017.1:p.Gly273Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580260217",
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001876.3:c.817G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001867.2:p.Gly273Ser",
        "hgvsWellDefined": "NP_001867.2:p.Gly273Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 963,
          "referenceAllele": "G",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273762.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273819.1:p.Gly305Ser",
        "hgvsWellDefined": "XP_005273819.1:p.Gly305Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 963,
          "referenceAllele": "G",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273763.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273820.1:p.Gly305Ser",
        "hgvsWellDefined": "XP_005273820.1:p.Gly305Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 963,
          "referenceAllele": "G",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_005273762.3:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273819.1:p.Gly305Ser",
        "hgvsWellDefined": "XP_005273819.1:p.Gly305Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "XM_017017220.1:c.817G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872709.1:p.Gly273Ser",
        "hgvsWellDefined": "XP_016872709.1:p.Gly273Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580260217",
      "coordinates": [
        {
          "allele": "A",
          "end": 972,
          "referenceAllele": "G",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001876.4:c.817G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001867.2:p.Gly273Ser",
        "hgvsWellDefined": "NP_001867.2:p.Gly273Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265641.10:c.817G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001876.4:c.817G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265641.4:p.Gly273Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001867.2:p.Gly273Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825357979",
      "coordinates": [
        {
          "allele": "A",
          "end": 972,
          "referenceAllele": "G",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002328",
      "geneNCBI_id": 1374,
      "geneSymbol": "CPT1A",
      "hgvs": [
        "NM_001031847.3:c.817G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001027017.1:p.Gly273Ser",
        "hgvsWellDefined": "NP_001027017.1:p.Gly273Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711494"
    }
  ],
  "type": "nucleotide"
}