{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394555993",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.5570A>G (p.His1857Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3779478T>C?assembly=hg19",
        "id": "chr16:g.3779478T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3729477T>C?assembly=hg38",
        "id": "chr16:g.3729477T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795628",
        "rs": 1064795628
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3729477,
          "referenceAllele": "T",
          "start": 3729476
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3729477T>C",
        "CM000678.2:g.3729477T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3779478,
          "referenceAllele": "T",
          "start": 3779477
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3779478T>C",
        "CM000678.1:g.3779478T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3719479,
          "referenceAllele": "T",
          "start": 3719478
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3719479T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155644,
          "referenceAllele": "A",
          "start": 155643
        }
      ],
      "hgvs": [
        "NG_009873.1:g.155644A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 156237,
          "referenceAllele": "A",
          "start": 156236
        }
      ],
      "hgvs": [
        "NG_009873.2:g.156237A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6367,
          "referenceAllele": "A",
          "start": 6366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.5570A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.His1857Arg",
        "hgvsWellDefined": "ENSP00000262367.5:p.His1857Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.5570A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.5570A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.His1857Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.His1857Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6380,
          "referenceAllele": "A",
          "start": 6379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.5570A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.His1857Arg",
        "hgvsWellDefined": "ENSP00000262367.5:p.His1857Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5660,
          "referenceAllele": "A",
          "start": 5659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.5456A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:p.His1819Arg",
        "hgvsWellDefined": "ENSP00000371502.3:p.His1819Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5660,
          "referenceAllele": "A",
          "start": 5659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.5456A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:p.His1819Arg",
        "hgvsWellDefined": "NP_001073315.1:p.His1819Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083289267",
      "coordinates": [
        {
          "allele": "G",
          "end": 5774,
          "referenceAllele": "A",
          "start": 5773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.5570A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.His1857Arg",
        "hgvsWellDefined": "NP_004371.2:p.His1857Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5598,
          "referenceAllele": "A",
          "start": 5597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.5525A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.His1842Arg",
        "hgvsWellDefined": "XP_005255181.1:p.His1842Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5226,
          "referenceAllele": "A",
          "start": 5225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.5153A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.His1718Arg",
        "hgvsWellDefined": "XP_005255182.1:p.His1718Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5382,
          "referenceAllele": "A",
          "start": 5381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.5309A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.His1770Arg",
        "hgvsWellDefined": "XP_006720911.1:p.His1770Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5531,
          "referenceAllele": "A",
          "start": 5530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.5516A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:p.His1839Arg",
        "hgvsWellDefined": "XP_011520682.1:p.His1839Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4832,
          "referenceAllele": "A",
          "start": 4831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.4817A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.His1606Arg",
        "hgvsWellDefined": "XP_011520683.1:p.His1606Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6336,
          "referenceAllele": "A",
          "start": 6335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.5525A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.His1842Arg",
        "hgvsWellDefined": "XP_005255181.1:p.His1842Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5964,
          "referenceAllele": "A",
          "start": 5963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.5153A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.His1718Arg",
        "hgvsWellDefined": "XP_005255182.1:p.His1718Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6120,
          "referenceAllele": "A",
          "start": 6119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.5309A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.His1770Arg",
        "hgvsWellDefined": "XP_006720911.1:p.His1770Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5263,
          "referenceAllele": "A",
          "start": 5262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.4817A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.His1606Arg",
        "hgvsWellDefined": "XP_011520683.1:p.His1606Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6375,
          "referenceAllele": "A",
          "start": 6374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.5564A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:p.His1855Arg",
        "hgvsWellDefined": "XP_016878433.1:p.His1855Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083289267",
      "coordinates": [
        {
          "allele": "G",
          "end": 6367,
          "referenceAllele": "A",
          "start": 6366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.5570A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.His1857Arg",
        "hgvsWellDefined": "NP_004371.2:p.His1857Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.5570A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.5570A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.His1857Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.His1857Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}