{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA201928",
  "communityStandardTitle": [
    "NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28625[alleleid]",
        "alleleId": 28625,
        "preferredName": "NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13586",
        "RCV": [
          "RCV000014555",
          "RCV000176409",
          "RCV000394923",
          "RCV001512633",
          "RCV002226647"
        ],
        "variationId": 13586
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-132206079-C-T",
        "id": "6-132206079-C-T",
        "variant": "6:132206079 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.132206079C>T?assembly=hg19",
        "id": "chr6:g.132206079C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.131884939C>T?assembly=hg38",
        "id": "chr6:g.131884939C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28933977",
        "rs": 28933977
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-132206079-C-T?dataset=gnomad_r2_1",
        "id": "6-132206079-C-T",
        "variant": "6:132206079 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-131884939-C-T?dataset=gnomad_r3",
        "id": "6-131884939-C-T",
        "variant": "6:131884939 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-131884939-C-T?dataset=gnomad_r4",
        "id": "6-131884939-C-T",
        "variant": "6:131884939 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 131884939,
          "referenceAllele": "C",
          "start": 131884938
        }
      ],
      "hgvs": [
        "NC_000006.12:g.131884939C>T",
        "CM000668.2:g.131884939C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 132206079,
          "referenceAllele": "C",
          "start": 132206078
        }
      ],
      "hgvs": [
        "NC_000006.11:g.132206079C>T",
        "CM000668.1:g.132206079C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 132247772,
          "referenceAllele": "C",
          "start": 132247771
        }
      ],
      "hgvs": [
        "NC_000006.10:g.132247772C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81924,
          "referenceAllele": "C",
          "start": 81923
        }
      ],
      "hgvs": [
        "NG_008206.1:g.81924C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000948"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "ENST00000684674.1:n.751C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2336,
          "referenceAllele": "C",
          "start": 2335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "ENST00000647893.1:c.2320C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498074.1:p.Arg774Cys",
        "hgvsWellDefined": "ENSP00000498074.1:p.Arg774Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769675",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647893.1:c.2320C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006208.3:c.2320C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498074.1:p.Arg774Cys"
          },
          "RefSeq": {
            "hgvs": "NP_006199.2:p.Arg774Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2340,
          "referenceAllele": "C",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "ENST00000360971.6:c.2320C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354238.2:p.Arg774Cys",
        "hgvsWellDefined": "ENSP00000354238.2:p.Arg774Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2296,
          "referenceAllele": "C",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "ENST00000513998.5:c.*1157C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422424.1:n.*1157C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343594"
    },
    {
      "@id": "http://reg.genome.network/allele/PA201929",
      "coordinates": [
        {
          "allele": "T",
          "end": 2340,
          "referenceAllele": "C",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "NM_006208.2:c.2320C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006199.2:p.Arg774Cys",
        "hgvsWellDefined": "NP_006199.2:p.Arg774Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1269,
          "referenceAllele": "C",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "XM_011535896.1:c.1210C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534198.1:p.Arg404Cys",
        "hgvsWellDefined": "XP_011534198.1:p.Arg404Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA201929",
      "coordinates": [
        {
          "allele": "T",
          "end": 2336,
          "referenceAllele": "C",
          "start": 2335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "NM_006208.3:c.2320C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006199.2:p.Arg774Cys",
        "hgvsWellDefined": "NP_006199.2:p.Arg774Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647893.1:c.2320C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006208.3:c.2320C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498074.1:p.Arg774Cys"
          },
          "RefSeq": {
            "hgvs": "NP_006199.2:p.Arg774Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}