{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4251828",
  "communityStandardTitle": [
    "NM_138295.5(PKD1L1):c.8059C>T (p.Pro2687Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3412108",
        "active": true,
        "id": "COSM3412108"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2406185[alleleid]",
        "alleleId": 2406185,
        "preferredName": "NM_138295.5(PKD1L1):c.8059C>T (p.Pro2687Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2434873",
        "RCV": [
          "RCV003134931"
        ],
        "variationId": 2434873
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-47840381-G-A",
        "id": "7-47840381-G-A",
        "variant": "7:47840381 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.47840381G>A?assembly=hg19",
        "id": "chr7:g.47840381G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.47800783G>A?assembly=hg38",
        "id": "chr7:g.47800783G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141837186",
        "rs": 141837186
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-47840381-G-A?dataset=gnomad_r2_1",
        "id": "7-47840381-G-A",
        "variant": "7:47840381 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-47800783-G-A?dataset=gnomad_r3",
        "id": "7-47800783-G-A",
        "variant": "7:47800783 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-47800783-G-A?dataset=gnomad_r4",
        "id": "7-47800783-G-A",
        "variant": "7:47800783 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 47800783,
          "referenceAllele": "G",
          "start": 47800782
        }
      ],
      "hgvs": [
        "NC_000007.14:g.47800783G>A",
        "CM000669.2:g.47800783G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 47840381,
          "referenceAllele": "G",
          "start": 47840380
        }
      ],
      "hgvs": [
        "NC_000007.13:g.47840381G>A",
        "CM000669.1:g.47840381G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 47806906,
          "referenceAllele": "G",
          "start": 47806905
        }
      ],
      "hgvs": [
        "NC_000007.12:g.47806906G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162840,
          "referenceAllele": "C",
          "start": 162839
        }
      ],
      "hgvs": [
        "NG_052801.1:g.162840C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617173"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 736,
          "referenceAllele": "C",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018053",
      "geneNCBI_id": 168507,
      "geneSymbol": "PKD1L1",
      "hgvs": [
        "ENST00000433506.2:c.736C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393466.2:p.Pro246Ser",
        "hgvsWellDefined": "ENSP00000393466.2:p.Pro246Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7917,
          "referenceAllele": "C",
          "start": 7916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018053",
      "geneNCBI_id": 168507,
      "geneSymbol": "PKD1L1",
      "hgvs": [
        "ENST00000685709.1:c.7891C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509540.1:p.Pro2631Ser",
        "hgvsWellDefined": "ENSP00000509540.1:p.Pro2631Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "C",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018053",
      "geneNCBI_id": 168507,
      "geneSymbol": "PKD1L1",
      "hgvs": [
        "ENST00000686775.1:c.1700C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8085,
          "referenceAllele": "C",
          "start": 8084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018053",
      "geneNCBI_id": 168507,
      "geneSymbol": "PKD1L1",
      "hgvs": [
        "ENST00000690269.1:c.8059C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510743.1:p.Pro2687Ser",
        "hgvsWellDefined": "ENSP00000510743.1:p.Pro2687Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8085,
          "referenceAllele": "C",
          "start": 8084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018053",
      "geneNCBI_id": 168507,
      "geneSymbol": "PKD1L1",
      "hgvs": [
        "ENST00000289672.7:c.8059C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289672.2:p.Pro2687Ser",
        "hgvsWellDefined": "ENSP00000289672.2:p.Pro2687Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289672.7:c.8059C>T"
          },
          "RefSeq": {
            "hgvs": "NM_138295.5:c.8059C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289672.2:p.Pro2687Ser"
          },
          "RefSeq": {
            "hgvs": "NP_612152.1:p.Pro2687Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018053",
      "geneNCBI_id": 168507,
      "geneSymbol": "PKD1L1",
      "hgvs": [
        "ENST00000648482.1:c.692C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8110,
          "referenceAllele": "C",
          "start": 8109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018053",
      "geneNCBI_id": 168507,
      "geneSymbol": "PKD1L1",
      "hgvs": [
        "ENST00000289672.6:c.8059C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289672.2:p.Pro2687Ser",
        "hgvsWellDefined": "ENSP00000289672.2:p.Pro2687Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2075,
          "endIntronDirection": "-",
          "endIntronOffset": 105007,
          "referenceAllele": "C",
          "start": 2075,
          "startIntronDirection": "-",
          "startIntronOffset": 105008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005309",
      "geneNCBI_id": 3364,
      "geneSymbol": "HUS1",
      "hgvs": [
        "ENST00000436444.5:c.*1171-105008C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403844.1:n.*1171-105008C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "endIntronDirection": "+",
          "endIntronOffset": 5340,
          "referenceAllele": "G",
          "start": 153,
          "startIntronDirection": "+",
          "startIntronOffset": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021911",
      "geneNCBI_id": 80099,
      "geneSymbol": "PKD1L1-AS1",
      "hgvs": [
        "NM_001302627.1:c.-94+5340G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289556.1:n.-94+5340G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "endIntronDirection": "+",
          "endIntronOffset": 5340,
          "referenceAllele": "G",
          "start": 153,
          "startIntronDirection": "+",
          "startIntronOffset": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021911",
      "geneNCBI_id": 80099,
      "geneSymbol": "PKD1L1-AS1",
      "hgvs": [
        "NM_025031.2:c.108+5340G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079307.2:n.108+5340G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038166"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580488822",
      "coordinates": [
        {
          "allele": "T",
          "end": 8093,
          "referenceAllele": "C",
          "start": 8092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018053",
      "geneNCBI_id": 168507,
      "geneSymbol": "PKD1L1",
      "hgvs": [
        "NM_138295.3:c.8059C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612152.1:p.Pro2687Ser",
        "hgvsWellDefined": "NP_612152.1:p.Pro2687Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580488822",
      "coordinates": [
        {
          "allele": "T",
          "end": 8110,
          "referenceAllele": "C",
          "start": 8109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018053",
      "geneNCBI_id": 168507,
      "geneSymbol": "PKD1L1",
      "hgvs": [
        "NM_138295.4:c.8059C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612152.1:p.Pro2687Ser",
        "hgvsWellDefined": "NP_612152.1:p.Pro2687Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14789,
          "referenceAllele": "C",
          "start": 14788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018053",
      "geneNCBI_id": 168507,
      "geneSymbol": "PKD1L1",
      "hgvs": [
        "XM_017011798.2:c.8236C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867287.1:p.Pro2746Ser",
        "hgvsWellDefined": "XP_016867287.1:p.Pro2746Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580488822",
      "coordinates": [
        {
          "allele": "T",
          "end": 8085,
          "referenceAllele": "C",
          "start": 8084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018053",
      "geneNCBI_id": 168507,
      "geneSymbol": "PKD1L1",
      "hgvs": [
        "NM_138295.5:c.8059C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612152.1:p.Pro2687Ser",
        "hgvsWellDefined": "NP_612152.1:p.Pro2687Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699700",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289672.7:c.8059C>T"
          },
          "RefSeq": {
            "hgvs": "NM_138295.5:c.8059C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289672.2:p.Pro2687Ser"
          },
          "RefSeq": {
            "hgvs": "NP_612152.1:p.Pro2687Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "endIntronDirection": "+",
          "endIntronOffset": 5340,
          "referenceAllele": "G",
          "start": 153,
          "startIntronDirection": "+",
          "startIntronOffset": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021911",
      "geneNCBI_id": 80099,
      "geneSymbol": "PKD1L1-AS1",
      "hgvs": [
        "NR_161268.1:n.153+5340G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "endIntronDirection": "+",
          "endIntronOffset": 5340,
          "referenceAllele": "G",
          "start": 153,
          "startIntronDirection": "+",
          "startIntronOffset": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021911",
      "geneNCBI_id": 80099,
      "geneSymbol": "PKD1L1-AS1",
      "hgvs": [
        "NR_161269.1:n.153+5340G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705308"
    }
  ],
  "type": "nucleotide"
}