{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2202940782",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.4133G= (p.Arg1378=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434626",
        "rs": 121434626
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3740399,
          "referenceAllele": "C",
          "start": 3740398
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3740399C=",
        "CM000678.2:g.3740399C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3790400,
          "referenceAllele": "C",
          "start": 3790399
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3790400C=",
        "CM000678.1:g.3790400C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3730401,
          "referenceAllele": "C",
          "start": 3730400
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3730401C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 144722,
          "referenceAllele": "G",
          "start": 144721
        }
      ],
      "hgvs": [
        "NG_009873.1:g.144722G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 145315,
          "referenceAllele": "G",
          "start": 145314
        }
      ],
      "hgvs": [
        "NG_009873.2:g.145315G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4930,
          "referenceAllele": "G",
          "start": 4929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.4133G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Arg1378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.4133G="
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.4133G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Arg1378="
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Arg1378="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4943,
          "referenceAllele": "G",
          "start": 4942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.4133G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Arg1378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4223,
          "referenceAllele": "G",
          "start": 4222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.4019G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:p.Arg1340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2768,
          "referenceAllele": "G",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000570939.2:c.2768G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461002.2:p.Arg923="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000573517.6:c.439G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 215,
          "referenceAllele": "G",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000574740.1:n.215G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3070,
          "referenceAllele": "G",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000576720.1:n.3070G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4223,
          "referenceAllele": "G",
          "start": 4222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.4019G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:p.Arg1340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082819255",
      "coordinates": [
        {
          "allele": "G",
          "end": 4337,
          "referenceAllele": "G",
          "start": 4336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.4133G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Arg1378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4161,
          "referenceAllele": "G",
          "start": 4160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.4088G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Arg1363="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3789,
          "referenceAllele": "G",
          "start": 3788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.3716G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Arg1239="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4206,
          "referenceAllele": "G",
          "start": 4205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.4133G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Arg1378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4094,
          "referenceAllele": "G",
          "start": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.4079G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:p.Arg1360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3395,
          "referenceAllele": "G",
          "start": 3394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.3380G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Arg1127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4899,
          "referenceAllele": "G",
          "start": 4898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.4088G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Arg1363="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4527,
          "referenceAllele": "G",
          "start": 4526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.3716G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Arg1239="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4944,
          "referenceAllele": "G",
          "start": 4943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.4133G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Arg1378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3826,
          "referenceAllele": "G",
          "start": 3825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.3380G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Arg1127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4938,
          "referenceAllele": "G",
          "start": 4937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.4127G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:p.Arg1376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082819255",
      "coordinates": [
        {
          "allele": "G",
          "end": 4930,
          "referenceAllele": "G",
          "start": 4929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.4133G="
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Arg1378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.4133G="
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.4133G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Arg1378="
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Arg1378="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}