{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9140693",
  "communityStandardTitle": [
    "NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361062[alleleid]",
        "alleleId": 361062,
        "preferredName": "NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374055",
        "RCV": [
          "RCV000414761",
          "RCV000415064",
          "RCV001268258",
          "RCV001643137",
          "RCV001861448",
          "RCV003235202"
        ],
        "variationId": 374055
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-7626395-C-T",
        "id": "19-7626395-C-T",
        "variant": "19:7626395 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.7626395C>T?assembly=hg19",
        "id": "chr19:g.7626395C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.7561509C>T?assembly=hg38",
        "id": "chr19:g.7561509C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374434303",
        "rs": 374434303
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-7626395-C-T?dataset=gnomad_r2_1",
        "id": "19-7626395-C-T",
        "variant": "19:7626395 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-7561509-C-T?dataset=gnomad_r3",
        "id": "19-7561509-C-T",
        "variant": "19:7561509 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-7561509-C-T?dataset=gnomad_r4",
        "id": "19-7561509-C-T",
        "variant": "19:7561509 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 7561509,
          "referenceAllele": "C",
          "start": 7561508
        }
      ],
      "hgvs": [
        "NC_000019.10:g.7561509C>T",
        "CM000681.2:g.7561509C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 7626395,
          "referenceAllele": "C",
          "start": 7626394
        }
      ],
      "hgvs": [
        "NC_000019.9:g.7626395C>T",
        "CM000681.1:g.7626395C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 7532395,
          "referenceAllele": "C",
          "start": 7532394
        }
      ],
      "hgvs": [
        "NC_000019.8:g.7532395C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32358,
          "referenceAllele": "C",
          "start": 32357
        }
      ],
      "hgvs": [
        "NG_013374.1:g.32358C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002823"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4117,
          "referenceAllele": "C",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "ENST00000600737.6:c.4045C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473211.1:p.Arg1349Trp",
        "hgvsWellDefined": "ENSP00000473211.1:p.Arg1349Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000600737.6:c.4045C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001166114.2:c.4045C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000473211.1:p.Arg1349Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001159586.1:p.Arg1349Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4362,
          "referenceAllele": "C",
          "start": 4361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "ENST00000221249.10:c.3931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221249.5:p.Arg1311Trp",
        "hgvsWellDefined": "ENSP00000221249.5:p.Arg1311Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4270,
          "referenceAllele": "C",
          "start": 4269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "ENST00000414982.7:c.4075C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407509.2:p.Arg1359Trp",
        "hgvsWellDefined": "ENSP00000407509.2:p.Arg1359Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4202,
          "referenceAllele": "C",
          "start": 4201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "ENST00000450331.7:c.3931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394348.2:p.Arg1311Trp",
        "hgvsWellDefined": "ENSP00000394348.2:p.Arg1311Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300653"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4250,
          "referenceAllele": "C",
          "start": 4249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "ENST00000545201.6:c.3850C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443323.1:p.Arg1284Trp",
        "hgvsWellDefined": "ENSP00000443323.1:p.Arg1284Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "ENST00000597202.1:n.403C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "ENST00000599947.1:c.414C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4128,
          "referenceAllele": "C",
          "start": 4127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "ENST00000600737.5:c.4045C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473211.1:p.Arg1349Trp",
        "hgvsWellDefined": "ENSP00000473211.1:p.Arg1349Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397419"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495465",
      "coordinates": [
        {
          "allele": "T",
          "end": 4315,
          "referenceAllele": "C",
          "start": 4314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "NM_001166111.1:c.4075C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159583.1:p.Arg1359Trp",
        "hgvsWellDefined": "NP_001159583.1:p.Arg1359Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826022182",
      "coordinates": [
        {
          "allele": "T",
          "end": 4250,
          "referenceAllele": "C",
          "start": 4249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "NM_001166112.1:c.3850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159584.1:p.Arg1284Trp",
        "hgvsWellDefined": "NP_001159584.1:p.Arg1284Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826022979",
      "coordinates": [
        {
          "allele": "T",
          "end": 4202,
          "referenceAllele": "C",
          "start": 4201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "NM_001166113.1:c.3931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159585.1:p.Arg1311Trp",
        "hgvsWellDefined": "NP_001159585.1:p.Arg1311Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826023773",
      "coordinates": [
        {
          "allele": "T",
          "end": 4131,
          "referenceAllele": "C",
          "start": 4130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "NM_001166114.1:c.4045C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159586.1:p.Arg1349Trp",
        "hgvsWellDefined": "NP_001159586.1:p.Arg1349Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829650358",
      "coordinates": [
        {
          "allele": "T",
          "end": 4214,
          "referenceAllele": "C",
          "start": 4213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "NM_006702.4:c.3931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006693.3:p.Arg1311Trp",
        "hgvsWellDefined": "NP_006693.3:p.Arg1311Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031694"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495465",
      "coordinates": [
        {
          "allele": "T",
          "end": 4281,
          "referenceAllele": "C",
          "start": 4280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "NM_001166111.2:c.4075C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159583.1:p.Arg1359Trp",
        "hgvsWellDefined": "NP_001159583.1:p.Arg1359Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826023773",
      "coordinates": [
        {
          "allele": "T",
          "end": 4117,
          "referenceAllele": "C",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "NM_001166114.2:c.4045C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159586.1:p.Arg1349Trp",
        "hgvsWellDefined": "NP_001159586.1:p.Arg1349Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678463",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000600737.6:c.4045C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001166114.2:c.4045C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000473211.1:p.Arg1349Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001159586.1:p.Arg1349Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829650358",
      "coordinates": [
        {
          "allele": "T",
          "end": 4202,
          "referenceAllele": "C",
          "start": 4201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "NM_006702.5:c.3931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006693.3:p.Arg1311Trp",
        "hgvsWellDefined": "NP_006693.3:p.Arg1311Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826022182",
      "coordinates": [
        {
          "allele": "T",
          "end": 4250,
          "referenceAllele": "C",
          "start": 4249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016268",
      "geneNCBI_id": 10908,
      "geneSymbol": "PNPLA6",
      "hgvs": [
        "NM_001166112.2:c.3850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159584.1:p.Arg1284Trp",
        "hgvsWellDefined": "NP_001159584.1:p.Arg1284Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713166"
    }
  ],
  "type": "nucleotide"
}