{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA222694",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.3982+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100946[alleleid]",
        "alleleId": 100946,
        "preferredName": "NM_004380.3(CREBBP):c.3982+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95046",
        "RCV": [
          "RCV000081051",
          "RCV000499536"
        ],
        "variationId": 95046
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3794894C>T?assembly=hg19",
        "id": "chr16:g.3794894C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3744893C>T?assembly=hg38",
        "id": "chr16:g.3744893C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398124145",
        "rs": 398124145
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 3744893,
          "referenceAllele": "C",
          "start": 3744892
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3744893C>T",
        "CM000678.2:g.3744893C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 3794894,
          "referenceAllele": "C",
          "start": 3794893
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3794894C>T",
        "CM000678.1:g.3794894C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 3734895,
          "referenceAllele": "C",
          "start": 3734894
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3734895C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140228,
          "referenceAllele": "G",
          "start": 140227
        }
      ],
      "hgvs": [
        "NG_009873.1:g.140228G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140821,
          "referenceAllele": "G",
          "start": 140820
        }
      ],
      "hgvs": [
        "NG_009873.2:g.140821G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4779,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4779,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.3982+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:n.3982+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.3982+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.3982+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:n.3982+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:n.3982+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 30,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000635919.1:n.30+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4792,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4792,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.3982+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:n.3982+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4072,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4072,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.3868+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:n.3868+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2617,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2617,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000570939.2:c.2617+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461002.2:n.2617+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 446,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000572569.1:n.446+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 288,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000573517.6:c.288+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 64,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000574740.1:n.64+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4072,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4072,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.3868+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:n.3868+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4186,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4186,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.3982+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:n.3982+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4010,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4010,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.3937+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:n.3937+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3638,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3638,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.3565+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:n.3565+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4055,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4055,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.3982+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:n.3982+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3943,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3943,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.3928+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:n.3928+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3244,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3244,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.3229+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:n.3229+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4748,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4748,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.3937+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:n.3937+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4376,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4376,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.3565+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:n.3565+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4793,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4793,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.3982+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:n.3982+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3675,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3675,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.3229+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:n.3229+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4787,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4787,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.3976+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:n.3976+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4779,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4779,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.3982+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:n.3982+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.3982+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.3982+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:n.3982+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:n.3982+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}