{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA396324431",
  "communityStandardTitle": [
    "NM_006565.4(CTCF):c.1999+1G>T"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5752724",
        "active": true,
        "id": "COSM5752724"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1312332[alleleid]",
        "alleleId": 1312332,
        "preferredName": "NM_006565.4(CTCF):c.1999+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1322014",
        "RCV": [
          "RCV001780088"
        ],
        "variationId": 1322014
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.67670755G>T?assembly=hg19",
        "id": "chr16:g.67670755G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.67636852G>T?assembly=hg38",
        "id": "chr16:g.67636852G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2142887335",
        "rs": 2142887335
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 67636852,
          "referenceAllele": "G",
          "start": 67636851
        }
      ],
      "hgvs": [
        "NC_000016.10:g.67636852G>T",
        "CM000678.2:g.67636852G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 67670755,
          "referenceAllele": "G",
          "start": 67670754
        }
      ],
      "hgvs": [
        "NC_000016.9:g.67670755G>T",
        "CM000678.1:g.67670755G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 66228256,
          "referenceAllele": "G",
          "start": 66228255
        }
      ],
      "hgvs": [
        "NC_000016.8:g.66228256G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79446,
          "referenceAllele": "G",
          "start": 79445
        }
      ],
      "hgvs": [
        "NG_033892.1:g.79446G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005578"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2324,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2324,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000264010.10:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264010.4:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742599",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264010.10:c.1999+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006565.4:c.1999+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264010.4:n.1999+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_006556.1:n.1999+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1316,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1316,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000401394.6:c.1015+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384707.1:n.1015+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 688,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 688,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000642420.1:n.688+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2500,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2500,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000642819.1:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494408.1:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2306,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2306,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000643892.1:c.*200+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494358.1:n.*200+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2225,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2225,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000644753.1:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493495.1:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1347,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1347,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000644950.1:n.1347+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2192,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2192,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000645306.1:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495218.1:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2919,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2919,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000645409.1:n.2919+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2242,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2242,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000645699.1:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495348.1:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2500,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2500,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000646076.1:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494538.1:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2483,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2483,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000646566.1:n.2483+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2261,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2261,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000646771.1:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494443.1:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2443,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2443,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000264010.8:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264010.4:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1482,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "ENST00000401394.5:c.1015+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384707.1:n.1015+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1482,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "NM_001191022.1:c.1015+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177951.1:n.1015+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2443,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2443,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "NM_006565.3:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006556.1:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2443,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2443,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "XM_005255775.2:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255832.1:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2193,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2193,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "NM_001363916.1:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350845.1:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523653"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2324,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2324,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "XM_005255775.4:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255832.1:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2193,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2193,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "XM_017022868.1:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878357.1:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2324,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2324,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "NM_006565.4:c.1999+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006556.1:n.1999+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667521",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264010.10:c.1999+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006565.4:c.1999+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264010.4:n.1999+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_006556.1:n.1999+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1363,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1363,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013723",
      "geneNCBI_id": 10664,
      "geneSymbol": "CTCF",
      "hgvs": [
        "NM_001191022.2:c.1015+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177951.1:n.1015+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679167"
    }
  ],
  "type": "nucleotide"
}