{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1973913",
  "communityStandardTitle": [
    "NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4842058",
        "active": true,
        "id": "COSM4842058"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4842059",
        "active": true,
        "id": "COSM4842059"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4842060",
        "active": true,
        "id": "COSM4842060"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=516692[alleleid]",
        "alleleId": 516692,
        "preferredName": "NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/540145",
        "RCV": [
          "RCV000650086"
        ],
        "variationId": 540145
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-175431874-G-A",
        "id": "2-175431874-G-A",
        "variant": "2:175431874 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.175431874G>A?assembly=hg19",
        "id": "chr2:g.175431874G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.174567146G>A?assembly=hg38",
        "id": "chr2:g.174567146G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753915750",
        "rs": 753915750
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-175431874-G-A?dataset=gnomad_r2_1",
        "id": "2-175431874-G-A",
        "variant": "2:175431874 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-174567146-G-A?dataset=gnomad_r3",
        "id": "2-174567146-G-A",
        "variant": "2:174567146 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-174567146-G-A?dataset=gnomad_r4",
        "id": "2-174567146-G-A",
        "variant": "2:174567146 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 174567146,
          "referenceAllele": "G",
          "start": 174567145
        }
      ],
      "hgvs": [
        "NC_000002.12:g.174567146G>A",
        "CM000664.2:g.174567146G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 175431874,
          "referenceAllele": "G",
          "start": 175431873
        }
      ],
      "hgvs": [
        "NC_000002.11:g.175431874G>A",
        "CM000664.1:g.175431874G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 175140120,
          "referenceAllele": "G",
          "start": 175140119
        }
      ],
      "hgvs": [
        "NC_000002.10:g.175140120G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 120754,
          "referenceAllele": "C",
          "start": 120753
        }
      ],
      "hgvs": [
        "NG_032009.1:g.120754C>T",
        "LRG_374:g.120754C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005091"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1454,
          "referenceAllele": "C",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000436221.2:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388454.2:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000698666.1:n.1385C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000698667.1:c.1167C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513868.1:p.Ser389="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000698668.1:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513869.1:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1628,
          "referenceAllele": "C",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000698701.1:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513882.1:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1622,
          "referenceAllele": "C",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000679041.1:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503603.1:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000679041.1:c.1380C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001375834.1:c.1380C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503603.1:p.Ser460="
          },
          "RefSeq": {
            "hgvs": "NP_001362763.1:p.Ser460="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1544,
          "referenceAllele": "C",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000272746.9:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272746.5:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1528,
          "referenceAllele": "C",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000359761.7:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352802.3:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1712,
          "referenceAllele": "C",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000392546.6:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376329.2:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000392547.6:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376330.2:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1583,
          "referenceAllele": "C",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000409891.5:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386431.1:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000467149.1:n.676C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1580,
          "referenceAllele": "C",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "ENST00000610916.4:c.1377C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479992.1:p.Ser459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825443724",
      "coordinates": [
        {
          "allele": "T",
          "end": 1544,
          "referenceAllele": "C",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001077269.1:c.1380C>T",
        "LRG_374t1:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070737.1:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829453629",
      "coordinates": [
        {
          "allele": "T",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_003387.4:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003378.3:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "XM_011511780.1:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510082.1:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "referenceAllele": "C",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "XM_011511781.1:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510083.1:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1548,
          "referenceAllele": "C",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "XM_011511780.3:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510082.1:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542289"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828632051",
      "coordinates": [
        {
          "allele": "T",
          "end": 1709,
          "referenceAllele": "C",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375832.1:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362761.1:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828632278",
      "coordinates": [
        {
          "allele": "T",
          "end": 1646,
          "referenceAllele": "C",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375833.1:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362762.1:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828632505",
      "coordinates": [
        {
          "allele": "T",
          "end": 1622,
          "referenceAllele": "C",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375834.1:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362763.1:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693913",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000679041.1:c.1380C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001375834.1:c.1380C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503603.1:p.Ser460="
          },
          "RefSeq": {
            "hgvs": "NP_001362763.1:p.Ser460="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828632732",
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "C",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375835.1:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362764.1:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828633434",
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_001375839.1:c.1002C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362768.1:p.Ser334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829453629",
      "coordinates": [
        {
          "allele": "T",
          "end": 1506,
          "referenceAllele": "C",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012736",
      "geneNCBI_id": 7456,
      "geneSymbol": "WIPF1",
      "hgvs": [
        "NM_003387.5:c.1380C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003378.3:p.Ser460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695810"
    }
  ],
  "type": "nucleotide"
}