{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366604225",
  "communityStandardTitle": [
    "NM_001013836.2(MAD1L1):c.175C>G (p.Arg59Gly)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=94642",
        "active": true,
        "id": "COSM94642"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2265161G>C?assembly=hg19",
        "id": "chr7:g.2265161G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2225526G>C?assembly=hg38",
        "id": "chr7:g.2225526G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908982",
        "rs": 121908982
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 2225526,
          "referenceAllele": "G",
          "start": 2225525
        }
      ],
      "hgvs": [
        "NC_000007.14:g.2225526G>C",
        "CM000669.2:g.2225526G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 2265161,
          "referenceAllele": "G",
          "start": 2265160
        }
      ],
      "hgvs": [
        "NC_000007.13:g.2265161G>C",
        "CM000669.1:g.2265161G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 2231687,
          "referenceAllele": "G",
          "start": 2231686
        }
      ],
      "hgvs": [
        "NC_000007.12:g.2231687G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12423,
          "referenceAllele": "C",
          "start": 12422
        }
      ],
      "hgvs": [
        "NG_011518.1:g.12423C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001785"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000265854.12:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265854.7:p.Arg59Gly",
        "hgvsWellDefined": "ENSP00000265854.7:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742895",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265854.12:c.175C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001013836.2:c.175C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265854.7:p.Arg59Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001013858.1:p.Arg59Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3097,
          "referenceAllele": "C",
          "start": 3096
        }
      ],
      "hgvs": [
        "ENST00000651235.1:c.*2583C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498895.1:n.*2583C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000265854.11:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265854.7:p.Arg59Gly",
        "hgvsWellDefined": "ENSP00000265854.7:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000399654.6:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382562.2:p.Arg59Gly",
        "hgvsWellDefined": "ENSP00000382562.2:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 74,
          "endIntronDirection": "-",
          "endIntronOffset": 2771,
          "referenceAllele": "C",
          "start": 74,
          "startIntronDirection": "-",
          "startIntronOffset": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000402746.5:c.-124-2772C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384155.1:n.-124-2772C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 733,
          "referenceAllele": "C",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000406869.5:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385334.1:p.Arg59Gly",
        "hgvsWellDefined": "ENSP00000385334.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 73,
          "referenceAllele": "C",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000429625.5:c.-39C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413139.1:n.-39C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 259,
          "referenceAllele": "C",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000429779.1:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395457.1:p.Arg59Gly",
        "hgvsWellDefined": "ENSP00000395457.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "endIntronDirection": "-",
          "endIntronOffset": 2771,
          "referenceAllele": "C",
          "start": 273,
          "startIntronDirection": "-",
          "startIntronOffset": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "ENST00000455998.5:c.151-2772C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390099.1:n.151-2772C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001013836.1:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013858.1:p.Arg59Gly",
        "hgvsWellDefined": "NP_001013858.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001013837.1:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013859.1:p.Arg59Gly",
        "hgvsWellDefined": "NP_001013859.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001304523.1:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291452.1:p.Arg59Gly",
        "hgvsWellDefined": "NP_001291452.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 77,
          "endIntronDirection": "-",
          "endIntronOffset": 2771,
          "referenceAllele": "C",
          "start": 77,
          "startIntronDirection": "-",
          "startIntronOffset": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001304524.1:c.-124-2772C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291453.1:n.-124-2772C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461552",
      "coordinates": [
        {
          "allele": "G",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_003550.2:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003541.2:p.Arg59Gly",
        "hgvsWellDefined": "NP_003541.2:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "endIntronDirection": "-",
          "endIntronOffset": 2771,
          "referenceAllele": "C",
          "start": 273,
          "startIntronDirection": "-",
          "startIntronOffset": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_005249877.1:c.151-2772C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249934.1:n.151-2772C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 185,
          "referenceAllele": "C",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_011515567.1:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513869.1:p.Arg59Gly",
        "hgvsWellDefined": "XP_011513869.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 185,
          "referenceAllele": "C",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_011515568.1:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513870.1:p.Arg59Gly",
        "hgvsWellDefined": "XP_011513870.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082788"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 185,
          "referenceAllele": "C",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_011515570.1:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513872.1:p.Arg59Gly",
        "hgvsWellDefined": "XP_011513872.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_011515568.3:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513870.1:p.Arg59Gly",
        "hgvsWellDefined": "XP_011513870.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_017012690.1:c.367C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868179.1:p.Arg123Gly",
        "hgvsWellDefined": "XP_016868179.1:p.Arg123Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_024446951.1:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302719.1:p.Arg59Gly",
        "hgvsWellDefined": "XP_024302719.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580588"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 452,
          "referenceAllele": "C",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "XM_024446952.1:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302720.1:p.Arg59Gly",
        "hgvsWellDefined": "XP_024302720.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580589"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001013836.2:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013858.1:p.Arg59Gly",
        "hgvsWellDefined": "NP_001013858.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675485",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265854.12:c.175C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001013836.2:c.175C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265854.7:p.Arg59Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001013858.1:p.Arg59Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001013837.2:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013859.1:p.Arg59Gly",
        "hgvsWellDefined": "NP_001013859.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 259,
          "referenceAllele": "C",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001304523.2:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291452.1:p.Arg59Gly",
        "hgvsWellDefined": "NP_001291452.1:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 74,
          "endIntronDirection": "-",
          "endIntronOffset": 2771,
          "referenceAllele": "C",
          "start": 74,
          "startIntronDirection": "-",
          "startIntronOffset": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_001304524.2:c.-124-2772C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291453.1:n.-124-2772C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461552",
      "coordinates": [
        {
          "allele": "G",
          "end": 475,
          "referenceAllele": "C",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006762",
      "geneNCBI_id": 8379,
      "geneSymbol": "MAD1L1",
      "hgvs": [
        "NM_003550.3:c.175C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003541.2:p.Arg59Gly",
        "hgvsWellDefined": "NP_003541.2:p.Arg59Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695890"
    }
  ],
  "type": "nucleotide"
}