{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5538727",
  "communityStandardTitle": [
    "NM_001083116.3(PRF1):c.1519G>T (p.Glu507Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835206[alleleid]",
        "alleleId": 2835206,
        "preferredName": "NM_001083116.3(PRF1):c.1519G>T (p.Glu507Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2678061",
        "RCV": [
          "RCV003471739"
        ],
        "variationId": 2678061
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-72357958-C-A",
        "id": "10-72357958-C-A",
        "variant": "10:72357958 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.72357958C>A?assembly=hg19",
        "id": "chr10:g.72357958C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.70598202C>A?assembly=hg38",
        "id": "chr10:g.70598202C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/779855980",
        "rs": 779855980
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-72357958-C-A?dataset=gnomad_r2_1",
        "id": "10-72357958-C-A",
        "variant": "10:72357958 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-70598202-C-A?dataset=gnomad_r4",
        "id": "10-70598202-C-A",
        "variant": "10:70598202 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 70598202,
          "referenceAllele": "C",
          "start": 70598201
        }
      ],
      "hgvs": [
        "NC_000010.11:g.70598202C>A",
        "CM000672.2:g.70598202C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 72357958,
          "referenceAllele": "C",
          "start": 72357957
        }
      ],
      "hgvs": [
        "NC_000010.10:g.72357958C>A",
        "CM000672.1:g.72357958C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 72027964,
          "referenceAllele": "C",
          "start": 72027963
        }
      ],
      "hgvs": [
        "NC_000010.9:g.72027964C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9574,
          "referenceAllele": "G",
          "start": 9573
        }
      ],
      "hgvs": [
        "NG_009615.1:g.9574G>T",
        "LRG_94:g.9574G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2722,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "C",
          "start": 2722,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697571.1:c.2419-686C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513342.1:n.2419-686C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "endIntronDirection": "+",
          "endIntronOffset": 33683,
          "referenceAllele": "C",
          "start": 2554,
          "startIntronDirection": "+",
          "startIntronOffset": 33682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697572.1:c.2250+33683C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513343.1:n.2250+33683C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2566,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "C",
          "start": 2566,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697573.1:c.2263-686C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513344.1:n.2263-686C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2722,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "C",
          "start": 2722,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697577.1:n.2723-686C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2566,
          "endIntronDirection": "-",
          "endIntronOffset": 685,
          "referenceAllele": "C",
          "start": 2566,
          "startIntronDirection": "-",
          "startIntronOffset": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697578.1:n.2567-686C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1646,
          "referenceAllele": "G",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000441259.2:c.1519G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398568.1:p.Glu507Ter",
        "hgvsWellDefined": "ENSP00000398568.1:p.Glu507_Trp555delinsValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441259.2:c.1519G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083116.3:c.1519G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398568.1:p.Glu507Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001076585.1:p.Glu507Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "endIntronDirection": "-",
          "endIntronOffset": 360,
          "referenceAllele": "G",
          "start": 586,
          "startIntronDirection": "-",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000638674.1:c.540-361G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492048.1:n.540-361G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 97,
          "endIntronDirection": "-",
          "endIntronOffset": 360,
          "referenceAllele": "G",
          "start": 97,
          "startIntronDirection": "-",
          "startIntronOffset": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000639390.1:n.98-361G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1638,
          "referenceAllele": "G",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000373209.2:c.1519G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362305.1:p.Glu507Ter",
        "hgvsWellDefined": "ENSP00000362305.1:p.Glu507_Trp555delinsValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1680,
          "referenceAllele": "G",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000441259.1:c.1519G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398568.1:p.Glu507Ter",
        "hgvsWellDefined": "ENSP00000398568.1:p.Glu507_Trp555delinsValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296306"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825485826",
      "coordinates": [
        {
          "allele": "T",
          "end": 1680,
          "referenceAllele": "G",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_001083116.1:c.1519G>T",
        "LRG_94t1:c.1519G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076585.1:p.Glu507Ter",
        "hgvsWellDefined": "NP_001076585.1:p.Glu507_Trp555delinsValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741919092",
      "coordinates": [
        {
          "allele": "T",
          "end": 1654,
          "referenceAllele": "G",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_005041.4:c.1519G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005032.2:p.Glu507Ter",
        "hgvsWellDefined": "NP_005032.2:p.Glu507_Trp555delinsValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825485826",
      "coordinates": [
        {
          "allele": "T",
          "end": 1693,
          "referenceAllele": "G",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_001083116.2:c.1519G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076585.1:p.Glu507Ter",
        "hgvsWellDefined": "NP_001076585.1:p.Glu507_Trp555delinsValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511265"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741919092",
      "coordinates": [
        {
          "allele": "T",
          "end": 1667,
          "referenceAllele": "G",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_005041.5:c.1519G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005032.2:p.Glu507Ter",
        "hgvsWellDefined": "NP_005032.2:p.Glu507_Trp555delinsValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525277"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825485826",
      "coordinates": [
        {
          "allele": "T",
          "end": 1646,
          "referenceAllele": "G",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_001083116.3:c.1519G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076585.1:p.Glu507Ter",
        "hgvsWellDefined": "NP_001076585.1:p.Glu507_Trp555delinsValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441259.2:c.1519G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083116.3:c.1519G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398568.1:p.Glu507Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001076585.1:p.Glu507Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741919092",
      "coordinates": [
        {
          "allele": "T",
          "end": 1620,
          "referenceAllele": "G",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_005041.6:c.1519G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005032.2:p.Glu507Ter",
        "hgvsWellDefined": "NP_005032.2:p.Glu507_Trp555delinsValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727576"
    }
  ],
  "type": "nucleotide"
}