{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA276784281",
  "communityStandardTitle": [
    "NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5693436",
        "active": true,
        "id": "COSM5693436"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=514060[alleleid]",
        "alleleId": 514060,
        "preferredName": "NM_001009944.3(PKD1):c.226C>T (p.His76Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523385",
        "RCV": [
          "RCV000626721",
          "RCV002507050"
        ],
        "variationId": 523385
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2169369G>A?assembly=hg19",
        "id": "chr16:g.2169369G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2119368G>A?assembly=hg38",
        "id": "chr16:g.2119368G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/932577597",
        "rs": 932577597
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2169369-G-A?dataset=gnomad_r2_1",
        "id": "16-2169369-G-A",
        "variant": "16:2169369 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2119368-G-A?dataset=gnomad_r3",
        "id": "16-2119368-G-A",
        "variant": "16:2119368 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2119368-G-A?dataset=gnomad_r4",
        "id": "16-2119368-G-A",
        "variant": "16:2119368 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2119368,
          "referenceAllele": "G",
          "start": 2119367
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2119368G>A",
        "CM000678.2:g.2119368G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2169369,
          "referenceAllele": "G",
          "start": 2169368
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2169369G>A",
        "CM000678.1:g.2169369G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2109370,
          "referenceAllele": "G",
          "start": 2109369
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2109370G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21531,
          "referenceAllele": "C",
          "start": 21530
        }
      ],
      "hgvs": [
        "NG_008617.1:g.21531C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000262304.9:c.226C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262304.4:p.His76Tyr",
        "hgvsWellDefined": "ENSP00000262304.4:p.His76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262304.9:c.226C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001009944.3:c.226C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262304.4:p.His76Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001009944.3:p.His76Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000262304.8:c.226C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262304.4:p.His76Tyr",
        "hgvsWellDefined": "ENSP00000262304.4:p.His76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000423118.5:c.226C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399501.1:p.His76Tyr",
        "hgvsWellDefined": "ENSP00000399501.1:p.His76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_000296.3:c.226C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000287.3:p.His76Tyr",
        "hgvsWellDefined": "NP_000287.3:p.His76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658800099",
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_001009944.2:c.226C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001009944.2:p.His76Tyr",
        "hgvsWellDefined": "NP_001009944.2:p.His76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522525.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520827.1:p.His94Tyr",
        "hgvsWellDefined": "XP_011520827.1:p.His94Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522526.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520828.1:p.His94Tyr",
        "hgvsWellDefined": "XP_011520828.1:p.His94Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522527.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520829.1:p.His94Tyr",
        "hgvsWellDefined": "XP_011520829.1:p.His94Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522528.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520830.1:p.His94Tyr",
        "hgvsWellDefined": "XP_011520830.1:p.His94Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522529.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520831.1:p.His94Tyr",
        "hgvsWellDefined": "XP_011520831.1:p.His94Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522530.1:c.226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520832.1:p.His76Tyr",
        "hgvsWellDefined": "XP_011520832.1:p.His76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522531.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520833.1:p.His94Tyr",
        "hgvsWellDefined": "XP_011520833.1:p.His94Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522532.1:c.226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520834.1:p.His76Tyr",
        "hgvsWellDefined": "XP_011520834.1:p.His76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522533.1:c.73C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520835.1:p.His25Tyr",
        "hgvsWellDefined": "XP_011520835.1:p.His25Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37,
          "referenceAllele": "C",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522534.1:c.16C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520836.1:p.His6Tyr",
        "hgvsWellDefined": "XP_011520836.1:p.His6Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522536.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520838.1:p.His94Tyr",
        "hgvsWellDefined": "XP_011520838.1:p.His94Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932867.1:n.295C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932868.1:n.295C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932869.1:n.295C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932870.1:n.295C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522528.3:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520830.1:p.His94Tyr",
        "hgvsWellDefined": "XP_011520830.1:p.His94Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522529.2:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520831.1:p.His94Tyr",
        "hgvsWellDefined": "XP_011520831.1:p.His94Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450298.1:c.226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306066.1:p.His76Tyr",
        "hgvsWellDefined": "XP_024306066.1:p.His76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450299.1:c.226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306067.1:p.His76Tyr",
        "hgvsWellDefined": "XP_024306067.1:p.His76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 227,
          "referenceAllele": "C",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450300.1:c.16C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306068.1:p.His6Tyr",
        "hgvsWellDefined": "XP_024306068.1:p.His6Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825108838",
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_000296.4:c.226C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000287.4:p.His76Tyr",
        "hgvsWellDefined": "NP_000287.4:p.His76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915955434",
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_001009944.3:c.226C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001009944.3:p.His76Tyr",
        "hgvsWellDefined": "NP_001009944.3:p.His76Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262304.9:c.226C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001009944.3:c.226C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262304.4:p.His76Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001009944.3:p.His76Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}