{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3777677",
  "communityStandardTitle": [
    "NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361957[alleleid]",
        "alleleId": 361957,
        "preferredName": "NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375256",
        "RCV": [
          "RCV000504558",
          "RCV000845143",
          "RCV003324746"
        ],
        "variationId": 375256
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-36259309-T-C",
        "id": "6-36259309-T-C",
        "variant": "6:36259309 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.36259309T>C?assembly=hg19",
        "id": "chr6:g.36259309T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.36291532T>C?assembly=hg38",
        "id": "chr6:g.36291532T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/781053760",
        "rs": 781053760
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-36259309-T-C?dataset=gnomad_r2_1",
        "id": "6-36259309-T-C",
        "variant": "6:36259309 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-36291532-T-C?dataset=gnomad_r3",
        "id": "6-36291532-T-C",
        "variant": "6:36291532 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-36291532-T-C?dataset=gnomad_r4",
        "id": "6-36291532-T-C",
        "variant": "6:36291532 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 36291532,
          "referenceAllele": "T",
          "start": 36291531
        }
      ],
      "hgvs": [
        "NC_000006.12:g.36291532T>C",
        "CM000668.2:g.36291532T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 36259309,
          "referenceAllele": "T",
          "start": 36259308
        }
      ],
      "hgvs": [
        "NC_000006.11:g.36259309T>C",
        "CM000668.1:g.36259309T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 36367287,
          "referenceAllele": "T",
          "start": 36367286
        }
      ],
      "hgvs": [
        "NC_000006.10:g.36367287T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 53365,
          "referenceAllele": "T",
          "start": 53364
        }
      ],
      "hgvs": [
        "NG_032813.1:g.53365T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005231"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 818,
          "referenceAllele": "T",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "ENST00000636260.2:c.418T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490785.2:p.Ser140Pro",
        "hgvsWellDefined": "ENSP00000490785.2:p.Ser140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762993",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636260.2:c.418T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001374623.1:c.418T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490785.2:p.Ser140Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001361552.1:p.Ser140Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 272,
          "referenceAllele": "T",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "ENST00000312917.9:c.133T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321116.5:p.Ser45Pro",
        "hgvsWellDefined": "ENSP00000321116.5:p.Ser45Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 272,
          "referenceAllele": "T",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "ENST00000388715.7:c.133T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373367.3:p.Ser45Pro",
        "hgvsWellDefined": "ENSP00000373367.3:p.Ser45Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "referenceAllele": "T",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "ENST00000394571.3:c.418T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378072.2:p.Ser140Pro",
        "hgvsWellDefined": "ENSP00000378072.2:p.Ser140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "referenceAllele": "T",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "ENST00000457797.5:c.418T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391868.1:p.Ser140Pro",
        "hgvsWellDefined": "ENSP00000391868.1:p.Ser140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825898946",
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "referenceAllele": "T",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "NM_001145716.2:c.133T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139188.1:p.Ser45Pro",
        "hgvsWellDefined": "NP_001139188.1:p.Ser45Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825899058",
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "referenceAllele": "T",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "NM_001145717.1:c.418T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139189.2:p.Ser140Pro",
        "hgvsWellDefined": "NP_001139189.2:p.Ser140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645377107",
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "referenceAllele": "T",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "NM_173676.2:c.133T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_775947.2:p.Ser45Pro",
        "hgvsWellDefined": "NP_775947.2:p.Ser45Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "T",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "XM_011514519.1:c.418T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512821.1:p.Ser140Pro",
        "hgvsWellDefined": "XP_011512821.1:p.Ser140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 800,
          "referenceAllele": "T",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "XM_011514520.1:c.133T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512822.1:p.Ser45Pro",
        "hgvsWellDefined": "XP_011512822.1:p.Ser45Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081745"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "referenceAllele": "T",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "XM_011514521.1:c.133T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512823.1:p.Ser45Pro",
        "hgvsWellDefined": "XP_011512823.1:p.Ser45Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 237,
          "referenceAllele": "T",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "XM_011514522.1:c.133T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512824.1:p.Ser45Pro",
        "hgvsWellDefined": "XP_011512824.1:p.Ser45Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 114,
          "referenceAllele": "T",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "XM_011514524.1:c.24T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512826.1:p.Arg8="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 812,
          "referenceAllele": "T",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "XM_011514525.1:c.418T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512827.1:p.Ser140Pro",
        "hgvsWellDefined": "XP_011512827.1:p.Ser140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 814,
          "referenceAllele": "T",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "XM_011514526.1:c.418T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512828.1:p.Ser140Pro",
        "hgvsWellDefined": "XP_011512828.1:p.Ser140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "referenceAllele": "T",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "XM_011514519.2:c.418T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512821.1:p.Ser140Pro",
        "hgvsWellDefined": "XP_011512821.1:p.Ser140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 952,
          "referenceAllele": "T",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "XM_011514520.2:c.133T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512822.1:p.Ser45Pro",
        "hgvsWellDefined": "XP_011512822.1:p.Ser45Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1054,
          "referenceAllele": "T",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "XM_017010776.1:c.418T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866265.1:p.Ser140Pro",
        "hgvsWellDefined": "XP_016866265.1:p.Ser140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1053,
          "referenceAllele": "T",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "XM_017010777.2:c.418T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866266.1:p.Ser140Pro",
        "hgvsWellDefined": "XP_016866266.1:p.Ser140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 952,
          "referenceAllele": "T",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "XM_017010778.1:c.133T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866267.1:p.Ser45Pro",
        "hgvsWellDefined": "XP_016866267.1:p.Ser45Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564755"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828530273",
      "coordinates": [
        {
          "allele": "C",
          "end": 818,
          "referenceAllele": "T",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021246",
      "geneNCBI_id": 285848,
      "geneSymbol": "PNPLA1",
      "hgvs": [
        "NM_001374623.1:c.418T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361552.1:p.Ser140Pro",
        "hgvsWellDefined": "NP_001361552.1:p.Ser140Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693331",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636260.2:c.418T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001374623.1:c.418T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490785.2:p.Ser140Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001361552.1:p.Ser140Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}