{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345034702",
  "communityStandardTitle": [
    "NM_001618.4(PARP1):c.2285T>G (p.Val762Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.226555302A>C?assembly=hg19",
        "id": "chr1:g.226555302A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.226367601A>C?assembly=hg38",
        "id": "chr1:g.226367601A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1136410",
        "rs": 1136410
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 226367601,
          "referenceAllele": "A",
          "start": 226367600
        }
      ],
      "hgvs": [
        "NC_000001.11:g.226367601A>C",
        "CM000663.2:g.226367601A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 226555302,
          "referenceAllele": "A",
          "start": 226555301
        }
      ],
      "hgvs": [
        "NC_000001.10:g.226555302A>C",
        "CM000663.1:g.226555302A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 224621925,
          "referenceAllele": "A",
          "start": 224621924
        }
      ],
      "hgvs": [
        "NC_000001.9:g.224621925A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2449,
          "referenceAllele": "T",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000366794.10:c.2285T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355759.5:p.Val762Gly",
        "hgvsWellDefined": "ENSP00000355759.5:p.Val762Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749855",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366794.10:c.2285T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001618.4:c.2285T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355759.5:p.Val762Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001609.2:p.Val762Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2444,
          "referenceAllele": "T",
          "start": 2443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000498787.2:n.2444T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2057,
          "referenceAllele": "T",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000676565.1:n.2057T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2510,
          "referenceAllele": "T",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000676685.1:n.2510T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2510,
          "referenceAllele": "T",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000676709.1:n.2510T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2248,
          "referenceAllele": "T",
          "start": 2247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000677091.1:c.*967T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504745.1:n.*967T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776758"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 338,
          "referenceAllele": "T",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000677189.1:n.338T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2327,
          "referenceAllele": "T",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000677203.1:c.2156T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503396.1:p.Val719Gly",
        "hgvsWellDefined": "ENSP00000503396.1:p.Val719Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3471,
          "referenceAllele": "T",
          "start": 3470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000677374.1:n.3471T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3097,
          "referenceAllele": "T",
          "start": 3096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000677884.1:n.3097T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "referenceAllele": "T",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000677985.1:n.275T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2199,
          "referenceAllele": "T",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000678144.1:c.*1105T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504430.1:n.*1105T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "referenceAllele": "T",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000678226.1:n.1264T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777875"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 410,
          "referenceAllele": "T",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000678288.1:n.410T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2732,
          "referenceAllele": "T",
          "start": 2731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000678560.1:c.*2273T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503293.1:n.*2273T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2510,
          "referenceAllele": "T",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000678781.1:n.2510T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2510,
          "referenceAllele": "T",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000679276.1:n.2510T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2429,
          "referenceAllele": "T",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000366794.9:c.2285T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355759.5:p.Val762Gly",
        "hgvsWellDefined": "ENSP00000355759.5:p.Val762Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266027"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "T",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000490921.5:n.813T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328640"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "T",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "ENST00000498787.1:n.341T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334716"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063875032",
      "coordinates": [
        {
          "allele": "G",
          "end": 2456,
          "referenceAllele": "T",
          "start": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "NM_001618.3:c.2285T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001609.2:p.Val762Gly",
        "hgvsWellDefined": "NP_001609.2:p.Val762Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026959"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063875032",
      "coordinates": [
        {
          "allele": "G",
          "end": 2449,
          "referenceAllele": "T",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000270",
      "geneNCBI_id": 142,
      "geneSymbol": "PARP1",
      "hgvs": [
        "NM_001618.4:c.2285T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001609.2:p.Val762Gly",
        "hgvsWellDefined": "NP_001609.2:p.Val762Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366794.10:c.2285T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001618.4:c.2285T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355759.5:p.Val762Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001609.2:p.Val762Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}