{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394557172",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.5324G>C (p.Cys1775Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3779724C>G?assembly=hg19",
        "id": "chr16:g.3779724C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3729723C>G?assembly=hg38",
        "id": "chr16:g.3729723C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2151311685",
        "rs": 2151311685
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 3729723,
          "referenceAllele": "C",
          "start": 3729722
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3729723C>G",
        "CM000678.2:g.3729723C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 3779724,
          "referenceAllele": "C",
          "start": 3779723
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3779724C>G",
        "CM000678.1:g.3779724C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 3719725,
          "referenceAllele": "C",
          "start": 3719724
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3719725C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 155398,
          "referenceAllele": "G",
          "start": 155397
        }
      ],
      "hgvs": [
        "NG_009873.1:g.155398G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 155991,
          "referenceAllele": "G",
          "start": 155990
        }
      ],
      "hgvs": [
        "NG_009873.2:g.155991G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6121,
          "referenceAllele": "G",
          "start": 6120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.5324G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Cys1775Ser",
        "hgvsWellDefined": "ENSP00000262367.5:p.Cys1775Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.5324G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.5324G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Cys1775Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Cys1775Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6134,
          "referenceAllele": "G",
          "start": 6133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.5324G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Cys1775Ser",
        "hgvsWellDefined": "ENSP00000262367.5:p.Cys1775Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5414,
          "referenceAllele": "G",
          "start": 5413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.5210G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:p.Cys1737Ser",
        "hgvsWellDefined": "ENSP00000371502.3:p.Cys1737Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5414,
          "referenceAllele": "G",
          "start": 5413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.5210G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:p.Cys1737Ser",
        "hgvsWellDefined": "NP_001073315.1:p.Cys1737Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083289260",
      "coordinates": [
        {
          "allele": "C",
          "end": 5528,
          "referenceAllele": "G",
          "start": 5527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.5324G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Cys1775Ser",
        "hgvsWellDefined": "NP_004371.2:p.Cys1775Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5352,
          "referenceAllele": "G",
          "start": 5351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.5279G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Cys1760Ser",
        "hgvsWellDefined": "XP_005255181.1:p.Cys1760Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4980,
          "referenceAllele": "G",
          "start": 4979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.4907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Cys1636Ser",
        "hgvsWellDefined": "XP_005255182.1:p.Cys1636Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5136,
          "referenceAllele": "G",
          "start": 5135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.5063G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Cys1688Ser",
        "hgvsWellDefined": "XP_006720911.1:p.Cys1688Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5285,
          "referenceAllele": "G",
          "start": 5284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.5270G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:p.Cys1757Ser",
        "hgvsWellDefined": "XP_011520682.1:p.Cys1757Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4586,
          "referenceAllele": "G",
          "start": 4585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.4571G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Cys1524Ser",
        "hgvsWellDefined": "XP_011520683.1:p.Cys1524Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6090,
          "referenceAllele": "G",
          "start": 6089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.5279G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Cys1760Ser",
        "hgvsWellDefined": "XP_005255181.1:p.Cys1760Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5718,
          "referenceAllele": "G",
          "start": 5717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.4907G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Cys1636Ser",
        "hgvsWellDefined": "XP_005255182.1:p.Cys1636Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5874,
          "referenceAllele": "G",
          "start": 5873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.5063G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Cys1688Ser",
        "hgvsWellDefined": "XP_006720911.1:p.Cys1688Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5017,
          "referenceAllele": "G",
          "start": 5016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.4571G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Cys1524Ser",
        "hgvsWellDefined": "XP_011520683.1:p.Cys1524Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6129,
          "referenceAllele": "G",
          "start": 6128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.5318G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:p.Cys1773Ser",
        "hgvsWellDefined": "XP_016878433.1:p.Cys1773Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083289260",
      "coordinates": [
        {
          "allele": "C",
          "end": 6121,
          "referenceAllele": "G",
          "start": 6120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.5324G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Cys1775Ser",
        "hgvsWellDefined": "NP_004371.2:p.Cys1775Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.5324G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.5324G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Cys1775Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Cys1775Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}