{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA256956",
  "communityStandardTitle": [
    "NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28762[alleleid]",
        "alleleId": 28762,
        "preferredName": "NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13723",
        "RCV": [
          "RCV000014726",
          "RCV003460478"
        ],
        "variationId": 13723
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-72358231-G-A",
        "id": "10-72358231-G-A",
        "variant": "10:72358231 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.72358231G>A?assembly=hg19",
        "id": "chr10:g.72358231G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.70598475G>A?assembly=hg38",
        "id": "chr10:g.70598475G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193302876",
        "rs": 193302876
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-72358231-G-A?dataset=gnomad_r2_1",
        "id": "10-72358231-G-A",
        "variant": "10:72358231 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-70598475-G-A?dataset=gnomad_r4",
        "id": "10-70598475-G-A",
        "variant": "10:70598475 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 70598475,
          "referenceAllele": "G",
          "start": 70598474
        }
      ],
      "hgvs": [
        "NC_000010.11:g.70598475G>A",
        "CM000672.2:g.70598475G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 72358231,
          "referenceAllele": "G",
          "start": 72358230
        }
      ],
      "hgvs": [
        "NC_000010.10:g.72358231G>A",
        "CM000672.1:g.72358231G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 72028237,
          "referenceAllele": "G",
          "start": 72028236
        }
      ],
      "hgvs": [
        "NC_000010.9:g.72028237G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9301,
          "referenceAllele": "C",
          "start": 9300
        }
      ],
      "hgvs": [
        "NG_009615.1:g.9301C>T",
        "LRG_94:g.9301C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001612"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2722,
          "endIntronDirection": "-",
          "endIntronOffset": 412,
          "referenceAllele": "G",
          "start": 2722,
          "startIntronDirection": "-",
          "startIntronOffset": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697571.1:c.2419-413G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513342.1:n.2419-413G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "endIntronDirection": "+",
          "endIntronOffset": 33956,
          "referenceAllele": "G",
          "start": 2554,
          "startIntronDirection": "+",
          "startIntronOffset": 33955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697572.1:c.2250+33956G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513343.1:n.2250+33956G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2566,
          "endIntronDirection": "-",
          "endIntronOffset": 412,
          "referenceAllele": "G",
          "start": 2566,
          "startIntronDirection": "-",
          "startIntronOffset": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697573.1:c.2263-413G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513344.1:n.2263-413G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2722,
          "endIntronDirection": "-",
          "endIntronOffset": 412,
          "referenceAllele": "G",
          "start": 2722,
          "startIntronDirection": "-",
          "startIntronOffset": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697577.1:n.2723-413G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2566,
          "endIntronDirection": "-",
          "endIntronOffset": 412,
          "referenceAllele": "G",
          "start": 2566,
          "startIntronDirection": "-",
          "startIntronOffset": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023530",
      "geneNCBI_id": 27143,
      "geneSymbol": "PALD1",
      "hgvs": [
        "ENST00000697578.1:n.2567-413G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "referenceAllele": "C",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000441259.2:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398568.1:p.Gln416Ter",
        "hgvsWellDefined": "ENSP00000398568.1:p.Gln416_Trp555delinsLeuGluValThrPheIleGlnAlaTrpGlyLeuTrpGlyAspTrpPheThrAlaThrAspAlaTyrValLysLeuPhePheGlyGlyGlnGluLeuArgThrSerThrValTrpAspAsnAsnAsnProIleTrpSerValArgLeuAspPheGlyAspValLeuLeuAlaThrGlyGlyProLeuArgLeuGlnValTrpAspGlnAspSerGlyArgAspAspAspLeuLeuGlyThrCysAspGlnAlaProLysSerGlySerHisGluValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441259.2:c.1246C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083116.3:c.1246C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398568.1:p.Gln416Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001076585.1:p.Gln416Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "endIntronDirection": "-",
          "endIntronOffset": 633,
          "referenceAllele": "C",
          "start": 586,
          "startIntronDirection": "-",
          "startIntronOffset": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000638674.1:c.540-634C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492048.1:n.540-634C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 97,
          "endIntronDirection": "-",
          "endIntronOffset": 633,
          "referenceAllele": "C",
          "start": 97,
          "startIntronDirection": "-",
          "startIntronOffset": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000639390.1:n.98-634C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1365,
          "referenceAllele": "C",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000373209.2:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362305.1:p.Gln416Ter",
        "hgvsWellDefined": "ENSP00000362305.1:p.Gln416_Trp555delinsLeuGluValThrPheIleGlnAlaTrpGlyLeuTrpGlyAspTrpPheThrAlaThrAspAlaTyrValLysLeuPhePheGlyGlyGlnGluLeuArgThrSerThrValTrpAspAsnAsnAsnProIleTrpSerValArgLeuAspPheGlyAspValLeuLeuAlaThrGlyGlyProLeuArgLeuGlnValTrpAspGlnAspSerGlyArgAspAspAspLeuLeuGlyThrCysAspGlnAlaProLysSerGlySerHisGluValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "ENST00000441259.1:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398568.1:p.Gln416Ter",
        "hgvsWellDefined": "ENSP00000398568.1:p.Gln416_Trp555delinsLeuGluValThrPheIleGlnAlaTrpGlyLeuTrpGlyAspTrpPheThrAlaThrAspAlaTyrValLysLeuPhePheGlyGlyGlnGluLeuArgThrSerThrValTrpAspAsnAsnAsnProIleTrpSerValArgLeuAspPheGlyAspValLeuLeuAlaThrGlyGlyProLeuArgLeuGlnValTrpAspGlnAspSerGlyArgAspAspAspLeuLeuGlyThrCysAspGlnAlaProLysSerGlySerHisGluValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296306"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256958",
      "coordinates": [
        {
          "allele": "T",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_001083116.1:c.1246C>T",
        "LRG_94t1:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076585.1:p.Gln416Ter",
        "hgvsWellDefined": "NP_001076585.1:p.Gln416_Trp555delinsLeuGluValThrPheIleGlnAlaTrpGlyLeuTrpGlyAspTrpPheThrAlaThrAspAlaTyrValLysLeuPhePheGlyGlyGlnGluLeuArgThrSerThrValTrpAspAsnAsnAsnProIleTrpSerValArgLeuAspPheGlyAspValLeuLeuAlaThrGlyGlyProLeuArgLeuGlnValTrpAspGlnAspSerGlyArgAspAspAspLeuLeuGlyThrCysAspGlnAlaProLysSerGlySerHisGluValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987640",
      "coordinates": [
        {
          "allele": "T",
          "end": 1381,
          "referenceAllele": "C",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_005041.4:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005032.2:p.Gln416Ter",
        "hgvsWellDefined": "NP_005032.2:p.Gln416_Trp555delinsLeuGluValThrPheIleGlnAlaTrpGlyLeuTrpGlyAspTrpPheThrAlaThrAspAlaTyrValLysLeuPhePheGlyGlyGlnGluLeuArgThrSerThrValTrpAspAsnAsnAsnProIleTrpSerValArgLeuAspPheGlyAspValLeuLeuAlaThrGlyGlyProLeuArgLeuGlnValTrpAspGlnAspSerGlyArgAspAspAspLeuLeuGlyThrCysAspGlnAlaProLysSerGlySerHisGluValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256958",
      "coordinates": [
        {
          "allele": "T",
          "end": 1420,
          "referenceAllele": "C",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_001083116.2:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076585.1:p.Gln416Ter",
        "hgvsWellDefined": "NP_001076585.1:p.Gln416_Trp555delinsLeuGluValThrPheIleGlnAlaTrpGlyLeuTrpGlyAspTrpPheThrAlaThrAspAlaTyrValLysLeuPhePheGlyGlyGlnGluLeuArgThrSerThrValTrpAspAsnAsnAsnProIleTrpSerValArgLeuAspPheGlyAspValLeuLeuAlaThrGlyGlyProLeuArgLeuGlnValTrpAspGlnAspSerGlyArgAspAspAspLeuLeuGlyThrCysAspGlnAlaProLysSerGlySerHisGluValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511265"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987640",
      "coordinates": [
        {
          "allele": "T",
          "end": 1394,
          "referenceAllele": "C",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_005041.5:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005032.2:p.Gln416Ter",
        "hgvsWellDefined": "NP_005032.2:p.Gln416_Trp555delinsLeuGluValThrPheIleGlnAlaTrpGlyLeuTrpGlyAspTrpPheThrAlaThrAspAlaTyrValLysLeuPhePheGlyGlyGlnGluLeuArgThrSerThrValTrpAspAsnAsnAsnProIleTrpSerValArgLeuAspPheGlyAspValLeuLeuAlaThrGlyGlyProLeuArgLeuGlnValTrpAspGlnAspSerGlyArgAspAspAspLeuLeuGlyThrCysAspGlnAlaProLysSerGlySerHisGluValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525277"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256958",
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "referenceAllele": "C",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_001083116.3:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076585.1:p.Gln416Ter",
        "hgvsWellDefined": "NP_001076585.1:p.Gln416_Trp555delinsLeuGluValThrPheIleGlnAlaTrpGlyLeuTrpGlyAspTrpPheThrAlaThrAspAlaTyrValLysLeuPhePheGlyGlyGlnGluLeuArgThrSerThrValTrpAspAsnAsnAsnProIleTrpSerValArgLeuAspPheGlyAspValLeuLeuAlaThrGlyGlyProLeuArgLeuGlnValTrpAspGlnAspSerGlyArgAspAspAspLeuLeuGlyThrCysAspGlnAlaProLysSerGlySerHisGluValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441259.2:c.1246C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083116.3:c.1246C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000398568.1:p.Gln416Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001076585.1:p.Gln416Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915987640",
      "coordinates": [
        {
          "allele": "T",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009360",
      "geneNCBI_id": 5551,
      "geneSymbol": "PRF1",
      "hgvs": [
        "NM_005041.6:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005032.2:p.Gln416Ter",
        "hgvsWellDefined": "NP_005032.2:p.Gln416_Trp555delinsLeuGluValThrPheIleGlnAlaTrpGlyLeuTrpGlyAspTrpPheThrAlaThrAspAlaTyrValLysLeuPhePheGlyGlyGlnGluLeuArgThrSerThrValTrpAspAsnAsnAsnProIleTrpSerValArgLeuAspPheGlyAspValLeuLeuAlaThrGlyGlyProLeuArgLeuGlnValTrpAspGlnAspSerGlyArgAspAspAspLeuLeuGlyThrCysAspGlnAlaProLysSerGlySerHisGluValArgCysAsnLeuAsnHisGlyHisLeuLysPheArgTyrHisAlaArgCysLeuProHisLeuGlyGlyGlyThrCysLeuAspTyrValProGlnMetLeuLeuGlyGluProProGlyAsnArgSerGlyAlaValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727576"
    }
  ],
  "type": "nucleotide"
}