{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA254814",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24471[alleleid]",
        "alleleId": 24471,
        "preferredName": "NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9432",
        "RCV": [
          "RCV000010039"
        ],
        "variationId": 9432
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3807895T>C?assembly=hg19",
        "id": "chr16:g.3807895T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3757894T>C?assembly=hg38",
        "id": "chr16:g.3757894T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28937315",
        "rs": 28937315
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3757894,
          "referenceAllele": "T",
          "start": 3757893
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3757894T>C",
        "CM000678.2:g.3757894T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3807895,
          "referenceAllele": "T",
          "start": 3807894
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3807895T>C",
        "CM000678.1:g.3807895T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3747896,
          "referenceAllele": "T",
          "start": 3747895
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3747896T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 127227,
          "referenceAllele": "A",
          "start": 127226
        }
      ],
      "hgvs": [
        "NG_009873.1:g.127227A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 127820,
          "referenceAllele": "A",
          "start": 127819
        }
      ],
      "hgvs": [
        "NG_009873.2:g.127820A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4321,
          "referenceAllele": "A",
          "start": 4320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.3524A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Tyr1175Cys",
        "hgvsWellDefined": "ENSP00000262367.5:p.Tyr1175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.3524A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.3524A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Tyr1175Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Tyr1175Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4334,
          "referenceAllele": "A",
          "start": 4333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.3524A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Tyr1175Cys",
        "hgvsWellDefined": "ENSP00000262367.5:p.Tyr1175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3614,
          "referenceAllele": "A",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.3410A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:p.Tyr1137Cys",
        "hgvsWellDefined": "ENSP00000371502.3:p.Tyr1137Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2129,
          "referenceAllele": "A",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000570939.2:c.2129A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461002.2:p.Tyr710Cys",
        "hgvsWellDefined": "ENSP00000461002.2:p.Tyr710Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825457008",
      "coordinates": [
        {
          "allele": "G",
          "end": 3614,
          "referenceAllele": "A",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.3410A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:p.Tyr1137Cys",
        "hgvsWellDefined": "NP_001073315.1:p.Tyr1137Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094338",
      "coordinates": [
        {
          "allele": "G",
          "end": 3728,
          "referenceAllele": "A",
          "start": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.3524A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Tyr1175Cys",
        "hgvsWellDefined": "NP_004371.2:p.Tyr1175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3552,
          "referenceAllele": "A",
          "start": 3551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.3479A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Tyr1160Cys",
        "hgvsWellDefined": "XP_005255181.1:p.Tyr1160Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3180,
          "referenceAllele": "A",
          "start": 3179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.3107A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Tyr1036Cys",
        "hgvsWellDefined": "XP_005255182.1:p.Tyr1036Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3597,
          "referenceAllele": "A",
          "start": 3596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.3524A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Tyr1175Cys",
        "hgvsWellDefined": "XP_006720911.1:p.Tyr1175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3485,
          "referenceAllele": "A",
          "start": 3484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.3470A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:p.Tyr1157Cys",
        "hgvsWellDefined": "XP_011520682.1:p.Tyr1157Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2786,
          "referenceAllele": "A",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.2771A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Tyr924Cys",
        "hgvsWellDefined": "XP_011520683.1:p.Tyr924Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3597,
          "referenceAllele": "A",
          "start": 3596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.1:c.3524A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Tyr1175Cys",
        "hgvsWellDefined": "XP_011520684.1:p.Tyr1175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4290,
          "referenceAllele": "A",
          "start": 4289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.3479A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Tyr1160Cys",
        "hgvsWellDefined": "XP_005255181.1:p.Tyr1160Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3918,
          "referenceAllele": "A",
          "start": 3917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.3107A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Tyr1036Cys",
        "hgvsWellDefined": "XP_005255182.1:p.Tyr1036Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4335,
          "referenceAllele": "A",
          "start": 4334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.3524A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Tyr1175Cys",
        "hgvsWellDefined": "XP_006720911.1:p.Tyr1175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3217,
          "referenceAllele": "A",
          "start": 3216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.2771A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Tyr924Cys",
        "hgvsWellDefined": "XP_011520683.1:p.Tyr924Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4335,
          "referenceAllele": "A",
          "start": 4334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.3:c.3524A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Tyr1175Cys",
        "hgvsWellDefined": "XP_011520684.1:p.Tyr1175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4329,
          "referenceAllele": "A",
          "start": 4328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.3518A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:p.Tyr1173Cys",
        "hgvsWellDefined": "XP_016878433.1:p.Tyr1173Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094338",
      "coordinates": [
        {
          "allele": "G",
          "end": 4321,
          "referenceAllele": "A",
          "start": 4320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.3524A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Tyr1175Cys",
        "hgvsWellDefined": "NP_004371.2:p.Tyr1175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.3524A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.3524A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Tyr1175Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Tyr1175Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}