{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA271372",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169253[alleleid]",
        "alleleId": 169253,
        "preferredName": "NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158346",
        "RCV": [
          "RCV000145724"
        ],
        "variationId": 158346
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3820916G>T?assembly=hg19",
        "id": "chr16:g.3820916G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3770915G>T?assembly=hg38",
        "id": "chr16:g.3770915G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587783471",
        "rs": 587783471
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 3770915,
          "referenceAllele": "G",
          "start": 3770914
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3770915G>T",
        "CM000678.2:g.3770915G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 3820916,
          "referenceAllele": "G",
          "start": 3820915
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3820916G>T",
        "CM000678.1:g.3820916G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 3760917,
          "referenceAllele": "G",
          "start": 3760916
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3760917G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 114206,
          "referenceAllele": "C",
          "start": 114205
        }
      ],
      "hgvs": [
        "NG_009873.1:g.114206C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 114799,
          "referenceAllele": "C",
          "start": 114798
        }
      ],
      "hgvs": [
        "NG_009873.2:g.114799C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3332,
          "referenceAllele": "C",
          "start": 3331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.2535C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Cys845Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.2535C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.2535C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Cys845Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Cys845Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3345,
          "referenceAllele": "C",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.2535C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Cys845Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2625,
          "referenceAllele": "C",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.2421C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:p.Cys807Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000570939.2:c.1140C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461002.2:p.Cys380Ter",
        "hgvsWellDefined": "ENSP00000461002.2:p.Cys380Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2625,
          "referenceAllele": "C",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.2421C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:p.Cys807Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2739,
          "referenceAllele": "C",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.2535C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Cys845Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2563,
          "referenceAllele": "C",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.2490C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Cys830Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2536,
          "endIntronDirection": "-",
          "endIntronOffset": 1561,
          "referenceAllele": "C",
          "start": 2536,
          "startIntronDirection": "-",
          "startIntronOffset": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.2464-1562C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:n.2464-1562C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2608,
          "referenceAllele": "C",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.2535C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Cys845Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2496,
          "referenceAllele": "C",
          "start": 2495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.2481C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:p.Cys827Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1797,
          "referenceAllele": "C",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.1782C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Cys594Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2608,
          "referenceAllele": "C",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.1:c.2535C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Cys845Ter",
        "hgvsWellDefined": "XP_011520684.1:p.Cys845_Glu1286delinsProProValThrGlnSerProLeuHisProThrProProProAlaSerThrAlaAlaGlyMetProSerLeuGlnHisThrThrProProGlyMetThrProProGlnProAlaAlaProThrGlnProSerThrProValSerSerSerGlyGlnThrProThrProThrProGlySerValProSerAlaThrGlnThrGlnSerThrProThrValGlnAlaAlaAlaGlnAlaGlnValThrProGlnProGlnThrProValGlnProProSerValAlaThrProGlnSerSerGlnGlnGlnProThrProValHisAlaGlnProProGlyThrProLeuSerGlnAlaAlaAlaSerIleAspAsnArgValProThrProSerSerValAlaSerAlaGluThrAsnSerGlnGlnProGlyProAspValProValLeuGluMetLysThrGluThrGlnAlaGluAspThrGluProAspProGlyGluSerLysGlyGluProArgSerGluMetMetGluGluAspLeuGlnGlyAlaSerGlnValLysGluGluThrAspIleAlaGluGlnLysSerGluProMetGluValAspGluLysLysProGluValLysValGluValLysGluGluGluGluSerSerSerAsnGlyThrAlaSerGlnSerThrSerProSerGlnProArgLysLysIlePheLysProGluGluLeuArgGlnAlaLeuMetProThrLeuGluAlaLeuTyrArgGlnAspProGluSerLeuProPheArgGlnProValAspProGlnLeuLeuGlyIleProAspTyrPheAspIleValLysAsnProMetAspLeuSerThrIleLysArgLysLeuAspThrGlyGlnTyrGlnGluProTrpGlnTyrValAspAspValTrpLeuMetPheAsnAsnAlaTrpLeuTyrAsnArgLysThrSerArgValTyrLysPheCysSerLysLeuAlaGluValPheGluGlnGluIleAspProValMetGlnSerLeuGlyTyrCysCysGlyArgLysTyrGluPheSerProGlnThrLeuCysCysTyrGlyLysGlnLeuCysThrIleProArgAspAlaAlaTyrTyrSerTyrGlnAsnArgTyrHisPheCysGluLysCysPheThrGluIleGlnGlyGluAsnValThrLeuGlyAspAspProSerGlnProGlnThrThrIleSerLysAspGlnPheGluLysLysLysAsnAspThrLeuAspProGluProGluIleGlyArgLysGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3301,
          "referenceAllele": "C",
          "start": 3300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.2490C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Cys830Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3274,
          "endIntronDirection": "-",
          "endIntronOffset": 1561,
          "referenceAllele": "C",
          "start": 3274,
          "startIntronDirection": "-",
          "startIntronOffset": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.2464-1562C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:n.2464-1562C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3346,
          "referenceAllele": "C",
          "start": 3345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.2535C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Cys845Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2228,
          "referenceAllele": "C",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.1782C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Cys594Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3346,
          "referenceAllele": "C",
          "start": 3345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.3:c.2535C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Cys845Ter",
        "hgvsWellDefined": "XP_011520684.1:p.Cys845_Glu1286delinsProProValThrGlnSerProLeuHisProThrProProProAlaSerThrAlaAlaGlyMetProSerLeuGlnHisThrThrProProGlyMetThrProProGlnProAlaAlaProThrGlnProSerThrProValSerSerSerGlyGlnThrProThrProThrProGlySerValProSerAlaThrGlnThrGlnSerThrProThrValGlnAlaAlaAlaGlnAlaGlnValThrProGlnProGlnThrProValGlnProProSerValAlaThrProGlnSerSerGlnGlnGlnProThrProValHisAlaGlnProProGlyThrProLeuSerGlnAlaAlaAlaSerIleAspAsnArgValProThrProSerSerValAlaSerAlaGluThrAsnSerGlnGlnProGlyProAspValProValLeuGluMetLysThrGluThrGlnAlaGluAspThrGluProAspProGlyGluSerLysGlyGluProArgSerGluMetMetGluGluAspLeuGlnGlyAlaSerGlnValLysGluGluThrAspIleAlaGluGlnLysSerGluProMetGluValAspGluLysLysProGluValLysValGluValLysGluGluGluGluSerSerSerAsnGlyThrAlaSerGlnSerThrSerProSerGlnProArgLysLysIlePheLysProGluGluLeuArgGlnAlaLeuMetProThrLeuGluAlaLeuTyrArgGlnAspProGluSerLeuProPheArgGlnProValAspProGlnLeuLeuGlyIleProAspTyrPheAspIleValLysAsnProMetAspLeuSerThrIleLysArgLysLeuAspThrGlyGlnTyrGlnGluProTrpGlnTyrValAspAspValTrpLeuMetPheAsnAsnAlaTrpLeuTyrAsnArgLysThrSerArgValTyrLysPheCysSerLysLeuAlaGluValPheGluGlnGluIleAspProValMetGlnSerLeuGlyTyrCysCysGlyArgLysTyrGluPheSerProGlnThrLeuCysCysTyrGlyLysGlnLeuCysThrIleProArgAspAlaAlaTyrTyrSerTyrGlnAsnArgTyrHisPheCysGluLysCysPheThrGluIleGlnGlyGluAsnValThrLeuGlyAspAspProSerGlnProGlnThrThrIleSerLysAspGlnPheGluLysLysLysAsnAspThrLeuAspProGluProGluIleGlyArgLysGluGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3340,
          "referenceAllele": "C",
          "start": 3339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.2529C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:p.Cys843Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3332,
          "referenceAllele": "C",
          "start": 3331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.2535C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Cys845Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.2535C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.2535C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Cys845Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Cys845Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}