{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2406116176",
  "communityStandardTitle": [
    "NM_001429.4(EP300):c.4763T= (p.Met1588=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057521737",
        "rs": 1057521737
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 41173768,
          "referenceAllele": "T",
          "start": 41173767
        }
      ],
      "hgvs": [
        "NC_000022.11:g.41173768T=",
        "CM000684.2:g.41173768T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 41569772,
          "referenceAllele": "T",
          "start": 41569771
        }
      ],
      "hgvs": [
        "NC_000022.10:g.41569772T=",
        "CM000684.1:g.41569772T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 39899718,
          "referenceAllele": "T",
          "start": 39899717
        }
      ],
      "hgvs": [
        "NC_000022.9:g.39899718T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 86159,
          "referenceAllele": "T",
          "start": 86158
        }
      ],
      "hgvs": [
        "NG_009817.1:g.86159T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001654"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4673,
          "referenceAllele": "T",
          "start": 4672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000703544.1:c.*2683T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515365.1:n.*2683T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5176,
          "referenceAllele": "T",
          "start": 5175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000263253.9:c.4763T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263253.7:p.Met1588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263253.9:c.4763T="
          },
          "RefSeq": {
            "hgvs": "NM_001429.4:c.4763T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263253.7:p.Met1588="
          },
          "RefSeq": {
            "hgvs": "NP_001420.2:p.Met1588="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4685,
          "referenceAllele": "T",
          "start": 4684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000674155.1:c.4685T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501078.1:p.Met1562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5982,
          "referenceAllele": "T",
          "start": 5981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000263253.8:c.4763T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263253.7:p.Met1588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088797363",
      "coordinates": [
        {
          "allele": "T",
          "end": 5158,
          "referenceAllele": "T",
          "start": 5157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001429.3:c.4763T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001420.2:p.Met1588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4883,
          "referenceAllele": "T",
          "start": 4882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "XM_006724165.2:c.4685T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724228.1:p.Met1562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5080,
          "referenceAllele": "T",
          "start": 5079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001362843.1:c.4685T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349772.1:p.Met1562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088797363",
      "coordinates": [
        {
          "allele": "T",
          "end": 5176,
          "referenceAllele": "T",
          "start": 5175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001429.4:c.4763T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001420.2:p.Met1588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664985",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263253.9:c.4763T="
          },
          "RefSeq": {
            "hgvs": "NM_001429.4:c.4763T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263253.7:p.Met1588="
          },
          "RefSeq": {
            "hgvs": "NP_001420.2:p.Met1588="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5098,
          "referenceAllele": "T",
          "start": 5097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001362843.2:c.4685T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349772.1:p.Met1562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690558"
    }
  ],
  "type": "nucleotide"
}