{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA158166",
  "communityStandardTitle": [
    "NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137663[alleleid]",
        "alleleId": 137663,
        "preferredName": "NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133924",
        "RCV": [
          "RCV000120591",
          "RCV002055327",
          "RCV003935143",
          "RCV001557193",
          "RCV002316339"
        ],
        "variationId": 133924
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-3820723-T-A",
        "id": "16-3820723-T-A",
        "variant": "16:3820723 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3820723T>A?assembly=hg19",
        "id": "chr16:g.3820723T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3770722T>A?assembly=hg38",
        "id": "chr16:g.3770722T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143247685",
        "rs": 143247685
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3820723-T-A?dataset=gnomad_r2_1",
        "id": "16-3820723-T-A",
        "variant": "16:3820723 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3770722-T-A?dataset=gnomad_r3",
        "id": "16-3770722-T-A",
        "variant": "16:3770722 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3770722-T-A?dataset=gnomad_r4",
        "id": "16-3770722-T-A",
        "variant": "16:3770722 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3770722,
          "referenceAllele": "T",
          "start": 3770721
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3770722T>A",
        "CM000678.2:g.3770722T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3820723,
          "referenceAllele": "T",
          "start": 3820722
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3820723T>A",
        "CM000678.1:g.3820723T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3760724,
          "referenceAllele": "T",
          "start": 3760723
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3760724T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114399,
          "referenceAllele": "A",
          "start": 114398
        }
      ],
      "hgvs": [
        "NG_009873.1:g.114399A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114992,
          "referenceAllele": "A",
          "start": 114991
        }
      ],
      "hgvs": [
        "NG_009873.2:g.114992A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706099"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3525,
          "referenceAllele": "A",
          "start": 3524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.10:c.2728A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Thr910Ser",
        "hgvsWellDefined": "ENSP00000262367.5:p.Thr910Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742326",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.2728A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.2728A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Thr910Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Thr910Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3538,
          "referenceAllele": "A",
          "start": 3537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000262367.9:c.2728A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262367.5:p.Thr910Ser",
        "hgvsWellDefined": "ENSP00000262367.5:p.Thr910Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2818,
          "referenceAllele": "A",
          "start": 2817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000382070.7:c.2614A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371502.3:p.Thr872Ser",
        "hgvsWellDefined": "ENSP00000371502.3:p.Thr872Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1333,
          "referenceAllele": "A",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "ENST00000570939.2:c.1333A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461002.2:p.Thr445Ser",
        "hgvsWellDefined": "ENSP00000461002.2:p.Thr445Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825456667",
      "coordinates": [
        {
          "allele": "T",
          "end": 2818,
          "referenceAllele": "A",
          "start": 2817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_001079846.1:c.2614A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073315.1:p.Thr872Ser",
        "hgvsWellDefined": "NP_001073315.1:p.Thr872Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA158167",
      "coordinates": [
        {
          "allele": "T",
          "end": 2932,
          "referenceAllele": "A",
          "start": 2931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.2:c.2728A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Thr910Ser",
        "hgvsWellDefined": "NP_004371.2:p.Thr910Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2756,
          "referenceAllele": "A",
          "start": 2755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.3:c.2683A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Thr895Ser",
        "hgvsWellDefined": "XP_005255181.1:p.Thr895Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2536,
          "endIntronDirection": "-",
          "endIntronOffset": 1368,
          "referenceAllele": "A",
          "start": 2536,
          "startIntronDirection": "-",
          "startIntronOffset": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.3:c.2464-1369A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:n.2464-1369A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2801,
          "referenceAllele": "A",
          "start": 2800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.2:c.2728A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Thr910Ser",
        "hgvsWellDefined": "XP_006720911.1:p.Thr910Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2689,
          "referenceAllele": "A",
          "start": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522380.1:c.2674A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520682.1:p.Thr892Ser",
        "hgvsWellDefined": "XP_011520682.1:p.Thr892Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1990,
          "referenceAllele": "A",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.1:c.1975A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Thr659Ser",
        "hgvsWellDefined": "XP_011520683.1:p.Thr659Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2801,
          "referenceAllele": "A",
          "start": 2800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.1:c.2728A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Thr910Ser",
        "hgvsWellDefined": "XP_011520684.1:p.Thr910Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3494,
          "referenceAllele": "A",
          "start": 3493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255124.4:c.2683A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255181.1:p.Thr895Ser",
        "hgvsWellDefined": "XP_005255181.1:p.Thr895Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3274,
          "endIntronDirection": "-",
          "endIntronOffset": 1368,
          "referenceAllele": "A",
          "start": 3274,
          "startIntronDirection": "-",
          "startIntronOffset": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_005255125.4:c.2464-1369A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255182.1:n.2464-1369A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3539,
          "referenceAllele": "A",
          "start": 3538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_006720848.3:c.2728A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720911.1:p.Thr910Ser",
        "hgvsWellDefined": "XP_006720911.1:p.Thr910Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2421,
          "referenceAllele": "A",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522381.2:c.1975A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520683.1:p.Thr659Ser",
        "hgvsWellDefined": "XP_011520683.1:p.Thr659Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3539,
          "referenceAllele": "A",
          "start": 3538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_011522382.3:c.2728A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520684.1:p.Thr910Ser",
        "hgvsWellDefined": "XP_011520684.1:p.Thr910Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3533,
          "referenceAllele": "A",
          "start": 3532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "XM_017022944.1:c.2722A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878433.1:p.Thr908Ser",
        "hgvsWellDefined": "XP_016878433.1:p.Thr908Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA158167",
      "coordinates": [
        {
          "allele": "T",
          "end": 3525,
          "referenceAllele": "A",
          "start": 3524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NM_004380.3:c.2728A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004371.2:p.Thr910Ser",
        "hgvsWellDefined": "NP_004371.2:p.Thr910Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262367.10:c.2728A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004380.3:c.2728A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262367.5:p.Thr910Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004371.2:p.Thr910Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}