{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16608306",
  "communityStandardTitle": [
    "NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=377868[alleleid]",
        "alleleId": 377868,
        "preferredName": "NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379820",
        "RCV": [
          "RCV000434738",
          "RCV000821367"
        ],
        "variationId": 379820
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50364936G>A?assembly=hg19",
        "id": "chr19:g.50364936G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.49861679G>A?assembly=hg38",
        "id": "chr19:g.49861679G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/539286945",
        "rs": 539286945
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-50364936-G-A?dataset=gnomad_r2_1",
        "id": "19-50364936-G-A",
        "variant": "19:50364936 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-49861679-G-A?dataset=gnomad_r3",
        "id": "19-49861679-G-A",
        "variant": "19:49861679 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-49861679-G-A?dataset=gnomad_r4",
        "id": "19-49861679-G-A",
        "variant": "19:49861679 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 49861679,
          "referenceAllele": "G",
          "start": 49861678
        }
      ],
      "hgvs": [
        "NC_000019.10:g.49861679G>A",
        "CM000681.2:g.49861679G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 50364936,
          "referenceAllele": "G",
          "start": 50364935
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50364936G>A",
        "CM000681.1:g.50364936G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 55056748,
          "referenceAllele": "G",
          "start": 55056747
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55056748G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10887,
          "referenceAllele": "C",
          "start": 10886
        }
      ],
      "hgvs": [
        "NG_027717.1:g.10887C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17836,
          "referenceAllele": "G",
          "start": 17835
        }
      ],
      "hgvs": [
        "NG_050666.1:g.17836G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616776"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1436,
          "referenceAllele": "C",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000322344.8:c.1315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323511.2:p.Arg439Ter",
        "hgvsWellDefined": "ENSP00000323511.2:p.Arg439_Gly521delinsAlaAlaGlyValProCysArgCysPheLeuPheThrAlaThrLeuGluGlnAlaArgHisAsnAsnArgPheArgGluMetThrAspSerSerHisIleProValSerAspMetValMetTyrGlyTyrArgLysGlnPheGluAlaProThrLeuAlaGluGlyPheSerAlaIleLeuGluIleProPheArgLeuTrpValGluProArgLeuGlyArgLeuTyrCysGlnPheSerGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746491",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322344.8:c.1315C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007254.4:c.1315C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323511.2:p.Arg439Ter"
          },
          "RefSeq": {
            "hgvs": "NP_009185.2:p.Arg439Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1746,
          "referenceAllele": "C",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000322344.7:c.1315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323511.2:p.Arg439Ter",
        "hgvsWellDefined": "ENSP00000323511.2:p.Arg439_Gly521delinsAlaAlaGlyValProCysArgCysPheLeuPheThrAlaThrLeuGluGlnAlaArgHisAsnAsnArgPheArgGluMetThrAspSerSerHisIleProValSerAspMetValMetTyrGlyTyrArgLysGlnPheGluAlaProThrLeuAlaGluGlyPheSerAlaIleLeuGluIleProPheArgLeuTrpValGluProArgLeuGlyArgLeuTyrCysGlnPheSerGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1428,
          "referenceAllele": "C",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000593946.5:c.*1242C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468896.1:n.*1242C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1816,
          "referenceAllele": "C",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000594661.5:n.1816C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 218,
          "referenceAllele": "C",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000595081.5:n.218C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "C",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000596014.5:c.1315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472300.1:p.Arg439Ter",
        "hgvsWellDefined": "ENSP00000472300.1:p.Arg439_Gly521delinsAlaAlaGlyValProCysArgCysPheLeuPheThrAlaThrLeuGluGlnAlaArgHisAsnAsnArgPheArgGluMetThrAspSerSerHisIleProValSerAspMetValMetTyrGlyTyrArgLysGlnPheGluAlaProThrLeuAlaGluGlyPheSerAlaIleLeuGluIleProPheArgLeuTrpValGluProArgLeuGlyArgLeuTyrCysGlnPheSerGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22,
          "referenceAllele": "C",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000597965.2:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471097.2:p.Arg8Ter",
        "hgvsWellDefined": "ENSP00000471097.2:p.Arg8_Gly56delinsAlaAlaGlyValProCysArgCysPheLeuPheThrAlaThrLeuGluGlnAlaArgHisAsnAsnArgPheArgGluMetThrAspSerSerHisIleProValSerAspMetValMetTyrGlyTyrArgTyrCysTrpGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 235,
          "referenceAllele": "C",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000599454.5:n.235C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000600573.5:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469826.1:p.Arg408Ter",
        "hgvsWellDefined": "ENSP00000469826.1:p.Arg408_Gly490delinsAlaAlaGlyValProCysArgCysPheLeuPheThrAlaThrLeuGluGlnAlaArgHisAsnAsnArgPheArgGluMetThrAspSerSerHisIleProValSerAspMetValMetTyrGlyTyrArgLysGlnPheGluAlaProThrLeuAlaGluGlyPheSerAlaIleLeuGluIleProPheArgLeuTrpValGluProArgLeuGlyArgLeuTyrCysGlnPheSerGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000600910.5:c.1205C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473137.1:p.Pro402Leu",
        "hgvsWellDefined": "ENSP00000473137.1:p.Pro402Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 290,
          "referenceAllele": "C",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000601816.3:n.290C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000625216.2:c.396C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486898.1:n.396C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1235,
          "referenceAllele": "C",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000627232.2:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486037.1:n.1235C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "ENST00000631020.2:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486707.1:p.Arg403Ter",
        "hgvsWellDefined": "ENSP00000486707.1:p.Arg403_Gly485delinsAlaAlaGlyValProCysArgCysPheLeuPheThrAlaThrLeuGluGlnAlaArgHisAsnAsnArgPheArgGluMetThrAspSerSerHisIleProValSerAspMetValMetTyrGlyTyrArgLysGlnPheGluAlaProThrLeuAlaGluGlyPheSerAlaIleLeuGluIleProPheArgLeuTrpValGluProArgLeuGlyArgLeuTyrCysGlnPheSerGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495432",
      "coordinates": [
        {
          "allele": "T",
          "end": 1425,
          "referenceAllele": "C",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NM_007254.3:c.1315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009185.2:p.Arg439Ter",
        "hgvsWellDefined": "NP_009185.2:p.Arg439_Gly521delinsAlaAlaGlyValProCysArgCysPheLeuPheThrAlaThrLeuGluGlnAlaArgHisAsnAsnArgPheArgGluMetThrAspSerSerHisIleProValSerAspMetValMetTyrGlyTyrArgLysGlnPheGluAlaProThrLeuAlaGluGlyPheSerAlaIleLeuGluIleProPheArgLeuTrpValGluProArgLeuGlyArgLeuTyrCysGlnPheSerGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495432",
      "coordinates": [
        {
          "allele": "T",
          "end": 1436,
          "referenceAllele": "C",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NM_007254.4:c.1315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009185.2:p.Arg439Ter",
        "hgvsWellDefined": "NP_009185.2:p.Arg439_Gly521delinsAlaAlaGlyValProCysArgCysPheLeuPheThrAlaThrLeuGluGlnAlaArgHisAsnAsnArgPheArgGluMetThrAspSerSerHisIleProValSerAspMetValMetTyrGlyTyrArgLysGlnPheGluAlaProThrLeuAlaGluGlyPheSerAlaIleLeuGluIleProPheArgLeuTrpValGluProArgLeuGlyArgLeuTyrCysGlnPheSerGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322344.8:c.1315C>T"
          },
          "RefSeq": {
            "hgvs": "NM_007254.4:c.1315C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323511.2:p.Arg439Ter"
          },
          "RefSeq": {
            "hgvs": "NP_009185.2:p.Arg439Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}