{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394563547",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.4508A>T (p.Tyr1503Phe)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=88745",
        "active": true,
        "id": "COSM88745"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3416762[alleleid]",
        "alleleId": 3416762,
        "preferredName": "NM_004380.3(CREBBP):c.4508A>T (p.Tyr1503Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3258003",
        "RCV": [
          "RCV004666591",
          "RCV004720548"
        ],
        "variationId": 3258003
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3786703T>A?assembly=hg19",
        "id": "chr16:g.3786703T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3736702T>A?assembly=hg38",
        "id": "chr16:g.3736702T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587783497",
        "rs": 587783497
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3736702,
          "referenceAllele": "T",
          "start": 3736701
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3736702T>A",
        "CM000678.2:g.3736702T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3786703,
          "referenceAllele": "T",
          "start": 3786702
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3786703T>A",
        "CM000678.1:g.3786703T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3726704,
          "referenceAllele": "T",
          "start": 3726703
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3726704T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148419,
          "referenceAllele": "A",
          "start": 148418
        }
      ],
      "hgvs": [
        "NG_009873.1:g.148419A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 149012,
          "referenceAllele": "A",
          "start": 149011
        }
      ],
      "hgvs": [
        "NG_009873.2:g.149012A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5305,
          "referenceAllele": "A",
          "start": 5304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.4508A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Tyr1503Phe",
        "hgvsWellDefined": "ENSP00000262367.5:p.Tyr1503Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.4508A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.4508A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Tyr1503Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Tyr1503Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5318,
          "referenceAllele": "A",
          "start": 5317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.4508A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Tyr1503Phe",
        "hgvsWellDefined": "ENSP00000262367.5:p.Tyr1503Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4598,
          "referenceAllele": "A",
          "start": 4597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.4394A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:p.Tyr1465Phe",
        "hgvsWellDefined": "ENSP00000371502.3:p.Tyr1465Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3143,
          "referenceAllele": "A",
          "start": 3142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000570939.2:c.3143A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461002.2:p.Tyr1048Phe",
        "hgvsWellDefined": "ENSP00000461002.2:p.Tyr1048Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 298,
          "referenceAllele": "A",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000571763.5:n.298A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 329,
          "referenceAllele": "A",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000574740.1:n.329A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3331,
          "referenceAllele": "A",
          "start": 3330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000576720.1:n.3331A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4598,
          "referenceAllele": "A",
          "start": 4597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.4394A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:p.Tyr1465Phe",
        "hgvsWellDefined": "NP_001073315.1:p.Tyr1465Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094359",
      "coordinates": [
        {
          "allele": "T",
          "end": 4712,
          "referenceAllele": "A",
          "start": 4711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.4508A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Tyr1503Phe",
        "hgvsWellDefined": "NP_004371.2:p.Tyr1503Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4536,
          "referenceAllele": "A",
          "start": 4535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.4463A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Tyr1488Phe",
        "hgvsWellDefined": "XP_005255181.1:p.Tyr1488Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4164,
          "referenceAllele": "A",
          "start": 4163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.4091A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Tyr1364Phe",
        "hgvsWellDefined": "XP_005255182.1:p.Tyr1364Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4320,
          "referenceAllele": "A",
          "start": 4319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.4247A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Tyr1416Phe",
        "hgvsWellDefined": "XP_006720911.1:p.Tyr1416Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4469,
          "referenceAllele": "A",
          "start": 4468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.4454A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:p.Tyr1485Phe",
        "hgvsWellDefined": "XP_011520682.1:p.Tyr1485Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3770,
          "referenceAllele": "A",
          "start": 3769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.3755A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Tyr1252Phe",
        "hgvsWellDefined": "XP_011520683.1:p.Tyr1252Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5274,
          "referenceAllele": "A",
          "start": 5273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.4463A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Tyr1488Phe",
        "hgvsWellDefined": "XP_005255181.1:p.Tyr1488Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4902,
          "referenceAllele": "A",
          "start": 4901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.4091A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:p.Tyr1364Phe",
        "hgvsWellDefined": "XP_005255182.1:p.Tyr1364Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5058,
          "referenceAllele": "A",
          "start": 5057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.4247A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Tyr1416Phe",
        "hgvsWellDefined": "XP_006720911.1:p.Tyr1416Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4201,
          "referenceAllele": "A",
          "start": 4200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.3755A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Tyr1252Phe",
        "hgvsWellDefined": "XP_011520683.1:p.Tyr1252Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5313,
          "referenceAllele": "A",
          "start": 5312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.4502A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:p.Tyr1501Phe",
        "hgvsWellDefined": "XP_016878433.1:p.Tyr1501Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094359",
      "coordinates": [
        {
          "allele": "T",
          "end": 5305,
          "referenceAllele": "A",
          "start": 5304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.4508A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Tyr1503Phe",
        "hgvsWellDefined": "NP_004371.2:p.Tyr1503Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.4508A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.4508A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Tyr1503Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Tyr1503Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}