{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2202953675",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.1270C= (p.Arg424=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587783464",
        "rs": 587783464
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 3792041,
          "referenceAllele": "G",
          "start": 3792040
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3792041G=",
        "CM000678.2:g.3792041G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 3842042,
          "referenceAllele": "G",
          "start": 3842041
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3842042G=",
        "CM000678.1:g.3842042G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 3782043,
          "referenceAllele": "G",
          "start": 3782042
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3782043G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 93080,
          "referenceAllele": "C",
          "start": 93079
        }
      ],
      "hgvs": [
        "NG_009873.1:g.93080C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 93673,
          "referenceAllele": "C",
          "start": 93672
        }
      ],
      "hgvs": [
        "NG_009873.2:g.93673C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2067,
          "referenceAllele": "C",
          "start": 2066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.1270C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Arg424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.1270C="
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.1270C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Arg424="
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Arg424="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2080,
          "referenceAllele": "C",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.1270C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Arg424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1420,
          "endIntronDirection": "+",
          "endIntronOffset": 1345,
          "referenceAllele": "C",
          "start": 1420,
          "startIntronDirection": "+",
          "startIntronOffset": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.1216+1345C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:n.1216+1345C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1420,
          "endIntronDirection": "+",
          "endIntronOffset": 1345,
          "referenceAllele": "C",
          "start": 1420,
          "startIntronDirection": "+",
          "startIntronOffset": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.1216+1345C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:n.1216+1345C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082955970",
      "coordinates": [
        {
          "allele": "C",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.1270C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Arg424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.1270C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Arg424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.1270C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Arg424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.1270C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Arg424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.1216C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:p.Arg406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 532,
          "referenceAllele": "C",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.517C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Arg173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.1:c.1270C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Arg424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.1270C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Arg424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.1270C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Arg424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.1270C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Arg424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 963,
          "referenceAllele": "C",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.517C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Arg173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.3:c.1270C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Arg424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.1270C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:p.Arg424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082955970",
      "coordinates": [
        {
          "allele": "C",
          "end": 2067,
          "referenceAllele": "C",
          "start": 2066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.1270C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Arg424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.1270C="
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.1270C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Arg424="
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Arg424="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}