{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402466113",
  "communityStandardTitle": [
    "NM_005359.6(SMAD4):c.1595C>A (p.Ala532Asp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1389109",
        "active": true,
        "id": "COSM1389109"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=814586[alleleid]",
        "alleleId": 814586,
        "preferredName": "NM_005359.6(SMAD4):c.1595C>A (p.Ala532Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/819615",
        "RCV": [
          "RCV001860701",
          "RCV002225124",
          "RCV002319165",
          "RCV003396597"
        ],
        "variationId": 819615
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.48604773C>A?assembly=hg19",
        "id": "chr18:g.48604773C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.51078403C>A?assembly=hg38",
        "id": "chr18:g.51078403C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1568211604",
        "rs": 1568211604
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 51078403,
          "referenceAllele": "C",
          "start": 51078402
        }
      ],
      "hgvs": [
        "NC_000018.10:g.51078403C>A",
        "CM000680.2:g.51078403C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 48604773,
          "referenceAllele": "C",
          "start": 48604772
        }
      ],
      "hgvs": [
        "NC_000018.9:g.48604773C>A",
        "CM000680.1:g.48604773C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 46858771,
          "referenceAllele": "C",
          "start": 46858770
        }
      ],
      "hgvs": [
        "NC_000018.8:g.46858771C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 115364,
          "referenceAllele": "C",
          "start": 115363
        }
      ],
      "hgvs": [
        "NG_013013.2:g.115364C>A",
        "LRG_318:g.115364C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002660"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1860,
          "referenceAllele": "C",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588860.6:c.1595C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465878.2:p.Ala532Asp",
        "hgvsWellDefined": "ENSP00000465878.2:p.Ala532Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1899,
          "referenceAllele": "C",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589076.6:c.1595C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466934.2:p.Ala532Asp",
        "hgvsWellDefined": "ENSP00000466934.2:p.Ala532Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2302,
          "referenceAllele": "C",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589941.2:c.1595C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465874.2:p.Ala532Asp",
        "hgvsWellDefined": "ENSP00000465874.2:p.Ala532Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1718,
          "referenceAllele": "C",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000590061.2:c.1595C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464772.2:p.Ala532Asp",
        "hgvsWellDefined": "ENSP00000464772.2:p.Ala532Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3606,
          "referenceAllele": "C",
          "start": 3605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000593223.2:c.*1592C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466118.2:n.*1592C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1835,
          "referenceAllele": "C",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000611848.2:c.*247C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478613.2:n.*247C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3610,
          "referenceAllele": "C",
          "start": 3609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000684953.1:n.3610C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3525,
          "referenceAllele": "C",
          "start": 3524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000685090.1:n.3525C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "C",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000685232.1:n.1816C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1703,
          "referenceAllele": "C",
          "start": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000688574.1:n.1703C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4556,
          "referenceAllele": "C",
          "start": 4555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000691124.1:n.4556C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2133,
          "referenceAllele": "C",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.8:c.1595C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:p.Ala532Asp",
        "hgvsWellDefined": "ENSP00000341551.3:p.Ala532Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.1595C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.1595C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:p.Ala532Asp"
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:p.Ala532Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2133,
          "referenceAllele": "C",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.7:c.1595C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:p.Ala532Asp",
        "hgvsWellDefined": "ENSP00000341551.3:p.Ala532Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1853,
          "referenceAllele": "C",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000398417.6:c.1595C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381452.1:p.Ala532Asp",
        "hgvsWellDefined": "ENSP00000381452.1:p.Ala532Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "C",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000586253.1:n.317C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588745.5:c.1307C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464901.1:p.Ala436Asp",
        "hgvsWellDefined": "ENSP00000464901.1:p.Ala436Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3596,
          "referenceAllele": "C",
          "start": 3595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000591126.5:n.3596C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392668"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000592186.5:c.1242C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468611.1:n.1242C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 908,
          "referenceAllele": "C",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000611848.1:c.908C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915995369",
      "coordinates": [
        {
          "allele": "A",
          "end": 2133,
          "referenceAllele": "C",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.5:c.1595C>A",
        "LRG_318t1:c.1595C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Ala532Asp",
        "hgvsWellDefined": "NP_005350.1:p.Ala532Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915995369",
      "coordinates": [
        {
          "allele": "A",
          "end": 2133,
          "referenceAllele": "C",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.6:c.1595C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Ala532Asp",
        "hgvsWellDefined": "NP_005350.1:p.Ala532Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696402",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.1595C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.1595C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:p.Ala532Asp"
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:p.Ala532Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}