{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6893918",
  "communityStandardTitle": [
    "NM_006231.4(POLE):c.1534G>A (p.Ala512Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=399274[alleleid]",
        "alleleId": 399274,
        "preferredName": "NM_006231.4(POLE):c.1534G>A (p.Ala512Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/405691",
        "RCV": [
          "RCV000478471",
          "RCV000709275",
          "RCV001292658",
          "RCV002268065",
          "RCV002257689",
          "RCV004539931"
        ],
        "variationId": 405691
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-133249365-C-T",
        "id": "12-133249365-C-T",
        "variant": "12:133249365 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.133249365C>T?assembly=hg19",
        "id": "chr12:g.133249365C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.132672779C>T?assembly=hg38",
        "id": "chr12:g.132672779C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113998091",
        "rs": 113998091
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-133249365-C-T?dataset=gnomad_r2_1",
        "id": "12-133249365-C-T",
        "variant": "12:133249365 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-132672779-C-T?dataset=gnomad_r3",
        "id": "12-132672779-C-T",
        "variant": "12:132672779 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-132672779-C-T?dataset=gnomad_r4",
        "id": "12-132672779-C-T",
        "variant": "12:132672779 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 132672779,
          "referenceAllele": "C",
          "start": 132672778
        }
      ],
      "hgvs": [
        "NC_000012.12:g.132672779C>T",
        "CM000674.2:g.132672779C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 133249365,
          "referenceAllele": "C",
          "start": 133249364
        }
      ],
      "hgvs": [
        "NC_000012.11:g.133249365C>T",
        "CM000674.1:g.133249365C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 131759438,
          "referenceAllele": "C",
          "start": 131759437
        }
      ],
      "hgvs": [
        "NC_000012.10:g.131759438C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19746,
          "referenceAllele": "G",
          "start": 19745
        }
      ],
      "hgvs": [
        "NG_033840.1:g.19746G>A",
        "LRG_789:g.19746G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005537"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 242,
          "referenceAllele": "G",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000539215.6:c.242G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1561,
          "referenceAllele": "G",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000545015.2:n.1561G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000699982.1:c.1388G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910853"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000699983.1:c.1388G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000699984.1:c.1388G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1561,
          "referenceAllele": "G",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000320574.10:c.1534G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322570.5:p.Ala512Thr",
        "hgvsWellDefined": "ENSP00000322570.5:p.Ala512Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320574.10:c.1534G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006231.4:c.1534G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322570.5:p.Ala512Thr"
          },
          "RefSeq": {
            "hgvs": "NP_006222.2:p.Ala512Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1721,
          "referenceAllele": "G",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000672742.1:c.*1036G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500279.1:n.*1036G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1578,
          "referenceAllele": "G",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000320574.9:c.1534G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322570.5:p.Ala512Thr",
        "hgvsWellDefined": "ENSP00000322570.5:p.Ala512Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000535270.5:c.1453G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445753.1:p.Ala485Thr",
        "hgvsWellDefined": "ENSP00000445753.1:p.Ala485Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1409,
          "referenceAllele": "G",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000535934.2:n.1409G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1546,
          "referenceAllele": "G",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000537064.5:c.*581G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442578.1:n.*581G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 242,
          "referenceAllele": "G",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000539215.5:n.242G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 131,
          "referenceAllele": "G",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000545015.1:n.131G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364875"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645487076",
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "NM_006231.3:c.1534G>A",
        "LRG_789t1:c.1534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006222.2:p.Ala512Thr",
        "hgvsWellDefined": "NP_006222.2:p.Ala512Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534795.1:c.1534G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533097.1:p.Ala512Thr",
        "hgvsWellDefined": "XP_011533097.1:p.Ala512Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1539,
          "referenceAllele": "G",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534796.1:c.1405G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533098.1:p.Ala469Thr",
        "hgvsWellDefined": "XP_011533098.1:p.Ala469Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "G",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534797.1:c.613G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533099.1:p.Ala205Thr",
        "hgvsWellDefined": "XP_011533099.1:p.Ala205Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534798.1:c.196G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533100.1:p.Ala66Thr",
        "hgvsWellDefined": "XP_011533100.1:p.Ala66Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534799.1:c.1534G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533101.1:p.Ala512Thr",
        "hgvsWellDefined": "XP_011533101.1:p.Ala512Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534800.1:c.1534G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533102.1:p.Ala512Thr",
        "hgvsWellDefined": "XP_011533102.1:p.Ala512Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534801.1:c.1534G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533103.1:p.Ala512Thr",
        "hgvsWellDefined": "XP_011533103.1:p.Ala512Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XR_941395.1:n.1743G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1738,
          "referenceAllele": "G",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534795.3:c.1534G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533097.1:p.Ala512Thr",
        "hgvsWellDefined": "XP_011533097.1:p.Ala512Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "G",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534797.3:c.613G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533099.1:p.Ala205Thr",
        "hgvsWellDefined": "XP_011533099.1:p.Ala205Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1738,
          "referenceAllele": "G",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534799.2:c.1534G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533101.1:p.Ala512Thr",
        "hgvsWellDefined": "XP_011533101.1:p.Ala512Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1738,
          "referenceAllele": "G",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XR_002957338.1:n.1738G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1738,
          "referenceAllele": "G",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XR_002957339.1:n.1738G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1738,
          "referenceAllele": "G",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XR_941395.2:n.1738G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612966"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645487076",
      "coordinates": [
        {
          "allele": "A",
          "end": 1561,
          "referenceAllele": "G",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "NM_006231.4:c.1534G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006222.2:p.Ala512Thr",
        "hgvsWellDefined": "NP_006222.2:p.Ala512Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320574.10:c.1534G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006231.4:c.1534G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322570.5:p.Ala512Thr"
          },
          "RefSeq": {
            "hgvs": "NP_006222.2:p.Ala512Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}