{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10860165",
  "communityStandardTitle": [
    "NM_018662.3(DISC1):c.2042+13180C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.232107814C>T?assembly=hg19",
        "id": "chr1:g.232107814C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.231972068C>T?assembly=hg38",
        "id": "chr1:g.231972068C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4658971",
        "rs": 4658971
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-232107814-C-T?dataset=gnomad_r2_1",
        "id": "1-232107814-C-T",
        "variant": "1:232107814 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-231972068-C-T?dataset=gnomad_r3",
        "id": "1-231972068-C-T",
        "variant": "1:231972068 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-231972068-C-T?dataset=gnomad_r4",
        "id": "1-231972068-C-T",
        "variant": "1:231972068 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 231972068,
          "referenceAllele": "C",
          "start": 231972067
        }
      ],
      "hgvs": [
        "NC_000001.11:g.231972068C>T",
        "CM000663.2:g.231972068C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 232107814,
          "referenceAllele": "C",
          "start": 232107813
        }
      ],
      "hgvs": [
        "NC_000001.10:g.232107814C>T",
        "CM000663.1:g.232107814C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 230174437,
          "referenceAllele": "C",
          "start": 230174436
        }
      ],
      "hgvs": [
        "NC_000001.9:g.230174437C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350254,
          "referenceAllele": "C",
          "start": 350253
        }
      ],
      "hgvs": [
        "NG_011681.1:g.350254C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350254,
          "referenceAllele": "C",
          "start": 350253
        }
      ],
      "hgvs": [
        "NG_011681.2:g.350254C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673554"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2095,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2095,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "ENST00000366637.8:c.2042+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355597.6:n.2042+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2120,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2120,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "ENST00000439617.8:c.2042+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403888.4:n.2042+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755758",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439617.8:c.2042+13180C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018662.3:c.2042+13180C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403888.4:n.2042+13180C>T"
          },
          "RefSeq": {
            "hgvs": "NP_061132.2:n.2042+13180C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2095,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2095,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "ENST00000366637.7:c.2042+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355597.5:n.2042+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2069,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2069,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "ENST00000422590.6:c.*1903+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415147.2:n.*1903+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "ENST00000427560.1:n.307+13180C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2095,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2095,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "ENST00000439617.6:c.2042+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403888.2:n.2042+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2034,
          "endIntronDirection": "-",
          "endIntronOffset": 36716,
          "referenceAllele": "C",
          "start": 2034,
          "startIntronDirection": "-",
          "startIntronOffset": 36717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "ENST00000535983.5:c.1982-36717C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443996.1:n.1982-36717C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1729,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 1729,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "ENST00000620189.3:c.1676+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482174.1:n.1676+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1965,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 1965,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "ENST00000622252.4:c.*583+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481791.1:n.*583+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2095,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2095,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_001012957.1:c.2042+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012975.1:n.2042+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2191,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2191,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_001164537.1:c.2138+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158009.1:n.2138+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2095,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2095,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_001164538.1:c.2042+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158010.1:n.2042+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1729,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 1729,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_001164540.1:c.1676+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158012.1:n.1676+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2034,
          "endIntronDirection": "-",
          "endIntronOffset": 36716,
          "referenceAllele": "C",
          "start": 2034,
          "startIntronDirection": "-",
          "startIntronOffset": 36717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_001164541.1:c.1982-36717C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158013.1:n.1982-36717C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1748,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 1748,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_001164547.1:c.*15+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158019.1:n.*15+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2095,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2095,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_018662.2:c.2042+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061132.2:n.2042+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2708,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2708,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049177",
      "geneNCBI_id": 100303453,
      "geneSymbol": "TSNAX-DISC1",
      "hgvs": [
        "NR_028393.1:n.2708+13180C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2120,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2120,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_001012957.2:c.2042+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012975.1:n.2042+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2216,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2216,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_001164537.2:c.2138+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158009.1:n.2138+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2120,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2120,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_001164538.2:c.2042+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158010.1:n.2042+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1754,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 1754,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_001164540.2:c.1676+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158012.1:n.1676+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2059,
          "endIntronDirection": "-",
          "endIntronOffset": 36716,
          "referenceAllele": "C",
          "start": 2059,
          "startIntronDirection": "-",
          "startIntronOffset": 36717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_001164541.2:c.1982-36717C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158013.1:n.1982-36717C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 1773,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_001164547.2:c.*15+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158019.1:n.*15+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2120,
          "endIntronDirection": "+",
          "endIntronOffset": 13180,
          "referenceAllele": "C",
          "start": 2120,
          "startIntronDirection": "+",
          "startIntronOffset": 13179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002888",
      "geneNCBI_id": 27185,
      "geneSymbol": "DISC1",
      "hgvs": [
        "NM_018662.3:c.2042+13180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061132.2:n.2042+13180C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698069",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439617.8:c.2042+13180C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018662.3:c.2042+13180C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403888.4:n.2042+13180C>T"
          },
          "RefSeq": {
            "hgvs": "NP_061132.2:n.2042+13180C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}