{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA387389561",
  "communityStandardTitle": [
    "NM_006231.4(POLE):c.3379-1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1333197[alleleid]",
        "alleleId": 1333197,
        "preferredName": "NM_006231.4(POLE):c.3379-1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1341951",
        "RCV": [
          "RCV001837430"
        ],
        "variationId": 1341951
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.133234016C>A?assembly=hg19",
        "id": "chr12:g.133234016C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.132657430C>A?assembly=hg38",
        "id": "chr12:g.132657430C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2138660149",
        "rs": 2138660149
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 132657430,
          "referenceAllele": "C",
          "start": 132657429
        }
      ],
      "hgvs": [
        "NC_000012.12:g.132657430C>A",
        "CM000674.2:g.132657430C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 133234016,
          "referenceAllele": "C",
          "start": 133234015
        }
      ],
      "hgvs": [
        "NC_000012.11:g.133234016C>A",
        "CM000674.1:g.133234016C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 131744089,
          "referenceAllele": "C",
          "start": 131744088
        }
      ],
      "hgvs": [
        "NC_000012.10:g.131744089C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35095,
          "referenceAllele": "G",
          "start": 35094
        }
      ],
      "hgvs": [
        "NG_033840.1:g.35095G>T",
        "LRG_789:g.35095G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005537"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1001,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000416953.3:n.1002-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1051,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1051,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000544870.6:c.1052-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479927.2:n.1052-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1032,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000699981.1:n.1033-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3232,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3232,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000699982.1:c.3233-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3936,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3936,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000699983.1:c.3937-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3232,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3232,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000699984.1:c.3233-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3405,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3405,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000320574.10:c.3379-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322570.5:n.3379-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746360",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320574.10:c.3379-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006231.4:c.3379-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322570.5:n.3379-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_006222.2:n.3379-1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1051,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1051,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000672002.1:c.1052-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500233.1:n.1052-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4269,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 4269,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000672742.1:c.*3585-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500279.1:n.*3585-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3422,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3422,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000320574.9:c.3379-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322570.5:n.3379-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3310,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3310,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000535270.5:c.3298-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445753.1:n.3298-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1722,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1722,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000536445.5:n.1723-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4094,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 4094,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "ENST00000537064.5:c.*3130-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442578.1:n.*3130-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3587,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3587,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "NM_006231.3:c.3379-1G>T",
        "LRG_789t1:c.3379-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006222.2:n.3379-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3587,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3587,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534795.1:c.3379-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533097.1:n.3379-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3383,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3383,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534796.1:c.3250-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533098.1:n.3250-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2543,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2543,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534797.1:c.2458-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533099.1:n.2458-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2103,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2103,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534798.1:c.2041-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533100.1:n.2041-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3587,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3587,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534799.1:c.3379-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533101.1:n.3379-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3587,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3587,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534800.1:c.3379-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533102.1:n.3379-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3587,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3587,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534801.1:c.3379-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533103.1:n.3379-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 404,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534802.1:c.367-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533104.1:n.367-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3587,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3587,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XR_941395.1:n.3588-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3582,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3582,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534795.3:c.3379-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533097.1:n.3379-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2551,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2551,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534797.3:c.2458-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533099.1:n.2458-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3582,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3582,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534799.2:c.3379-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533101.1:n.3379-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 404,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XM_011534802.3:c.367-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533104.1:n.367-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3582,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3582,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XR_002957338.1:n.3583-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3582,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3582,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XR_002957339.1:n.3583-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3582,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3582,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "XR_941395.2:n.3583-1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3405,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3405,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009177",
      "geneNCBI_id": 5426,
      "geneSymbol": "POLE",
      "hgvs": [
        "NM_006231.4:c.3379-1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006222.2:n.3379-1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320574.10:c.3379-1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006231.4:c.3379-1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322570.5:n.3379-1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_006222.2:n.3379-1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}