{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2202994052",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.598C= (p.Gln200=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587783509",
        "rs": 587783509
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 3850497,
          "referenceAllele": "G",
          "start": 3850496
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3850497G=",
        "CM000678.2:g.3850497G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 3900498,
          "referenceAllele": "G",
          "start": 3900497
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3900498G=",
        "CM000678.1:g.3900498G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 3840499,
          "referenceAllele": "G",
          "start": 3840498
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3840499G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34624,
          "referenceAllele": "C",
          "start": 34623
        }
      ],
      "hgvs": [
        "NG_009873.1:g.34624C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35217,
          "referenceAllele": "C",
          "start": 35216
        }
      ],
      "hgvs": [
        "NG_009873.2:g.35217C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1395,
          "referenceAllele": "C",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.598C="
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.598C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Gln200="
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Gln200="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1408,
          "referenceAllele": "C",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082955960",
      "coordinates": [
        {
          "allele": "C",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 559,
          "referenceAllele": "C",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.544C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:p.Gln182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.1:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.3:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "C",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082955960",
      "coordinates": [
        {
          "allele": "C",
          "end": 1395,
          "referenceAllele": "C",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.598C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.598C="
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.598C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Gln200="
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Gln200="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}