{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6239364",
  "communityStandardTitle": [
    "NM_014679.5(CEP57):c.95C>T (p.Ser32Phe)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6135075",
        "active": true,
        "id": "COSM6135075"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6135076",
        "active": true,
        "id": "COSM6135076"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=526529[alleleid]",
        "alleleId": 526529,
        "preferredName": "NM_014679.5(CEP57):c.95C>T (p.Ser32Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/539588",
        "RCV": [
          "RCV000649345",
          "RCV002530531"
        ],
        "variationId": 539588
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-95532445-C-T",
        "id": "11-95532445-C-T",
        "variant": "11:95532445 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.95532445C>T?assembly=hg19",
        "id": "chr11:g.95532445C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.95799281C>T?assembly=hg38",
        "id": "chr11:g.95799281C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139110744",
        "rs": 139110744
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-95532445-C-T?dataset=gnomad_r2_1",
        "id": "11-95532445-C-T",
        "variant": "11:95532445 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-95799281-C-T?dataset=gnomad_r3",
        "id": "11-95799281-C-T",
        "variant": "11:95799281 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-95799281-C-T?dataset=gnomad_r4",
        "id": "11-95799281-C-T",
        "variant": "11:95799281 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 95799281,
          "referenceAllele": "C",
          "start": 95799280
        }
      ],
      "hgvs": [
        "NC_000011.10:g.95799281C>T",
        "CM000673.2:g.95799281C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 95532445,
          "referenceAllele": "C",
          "start": 95532444
        }
      ],
      "hgvs": [
        "NC_000011.9:g.95532445C>T",
        "CM000673.1:g.95532445C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 95172093,
          "referenceAllele": "C",
          "start": 95172092
        }
      ],
      "hgvs": [
        "NC_000011.8:g.95172093C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13821,
          "referenceAllele": "C",
          "start": 13820
        }
      ],
      "hgvs": [
        "NG_029829.1:g.13821C>T",
        "LRG_526:g.13821C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004693"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "referenceAllele": "C",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000325542.10:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317902.5:p.Ser32Phe",
        "hgvsWellDefined": "ENSP00000317902.5:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325542.10:c.95C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014679.5:c.95C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317902.5:p.Ser32Phe"
          },
          "RefSeq": {
            "hgvs": "NP_055494.2:p.Ser32Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000325486.9:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317487.5:p.Ser32Phe",
        "hgvsWellDefined": "ENSP00000317487.5:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000325542.9:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317902.5:p.Ser32Phe",
        "hgvsWellDefined": "ENSP00000317902.5:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 8538,
          "referenceAllele": "C",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 8537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000535497.1:c.45+8538C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442481.1:n.45+8538C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "C",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000537677.5:c.14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441392.1:p.Ser5Phe",
        "hgvsWellDefined": "ENSP00000441392.1:p.Ser5Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000538095.1:c.*75C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443866.1:n.*75C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135,
          "referenceAllele": "C",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000538658.5:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445706.1:p.Ser32Phe",
        "hgvsWellDefined": "ENSP00000445706.1:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "referenceAllele": "C",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000539855.5:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437422.1:p.Ser32Phe",
        "hgvsWellDefined": "ENSP00000437422.1:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
          "referenceAllele": "C",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000540830.5:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440996.1:p.Ser32Phe",
        "hgvsWellDefined": "ENSP00000440996.1:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68,
          "referenceAllele": "C",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000541150.5:c.68C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443436.1:p.Ser23Phe",
        "hgvsWellDefined": "ENSP00000443436.1:p.Ser23Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 267,
          "referenceAllele": "C",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000541365.5:c.14C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445821.1:p.Ser5Phe",
        "hgvsWellDefined": "ENSP00000445821.1:p.Ser5Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "C",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000544522.5:c.68C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438065.1:p.Ser23Phe",
        "hgvsWellDefined": "ENSP00000438065.1:p.Ser23Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826336715",
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "C",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243776.1:c.68C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230705.1:p.Ser23Phe",
        "hgvsWellDefined": "NP_001230705.1:p.Ser23Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826337555",
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243777.1:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230706.1:p.Ser32Phe",
        "hgvsWellDefined": "NP_001230706.1:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658809277",
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_014679.4:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055494.2:p.Ser32Phe",
        "hgvsWellDefined": "NP_055494.2:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_006718945.2:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719008.1:p.Ser32Phe",
        "hgvsWellDefined": "XP_006719008.1:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_006718946.2:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719009.1:p.Ser32Phe",
        "hgvsWellDefined": "XP_006719009.1:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072860"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043859",
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001363604.1:c.14C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350533.1:p.Ser5Phe",
        "hgvsWellDefined": "NP_001350533.1:p.Ser5Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_006718945.3:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719008.1:p.Ser32Phe",
        "hgvsWellDefined": "XP_006719008.1:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_006718946.3:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719009.1:p.Ser32Phe",
        "hgvsWellDefined": "XP_006719009.1:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_017018592.1:c.68C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874081.1:p.Ser23Phe",
        "hgvsWellDefined": "XP_016874081.1:p.Ser23Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_017018593.2:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874082.1:p.Ser32Phe",
        "hgvsWellDefined": "XP_016874082.1:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_017018594.2:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874083.1:p.Ser32Phe",
        "hgvsWellDefined": "XP_016874083.1:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "referenceAllele": "C",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_024448779.1:c.14C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304547.1:p.Ser5Phe",
        "hgvsWellDefined": "XP_024304547.1:p.Ser5Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XR_001748050.2:n.323C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658809277",
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "referenceAllele": "C",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_014679.5:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055494.2:p.Ser32Phe",
        "hgvsWellDefined": "NP_055494.2:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668449",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325542.10:c.95C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014679.5:c.95C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317902.5:p.Ser32Phe"
          },
          "RefSeq": {
            "hgvs": "NP_055494.2:p.Ser32Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826336715",
      "coordinates": [
        {
          "allele": "T",
          "end": 340,
          "referenceAllele": "C",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243776.2:c.68C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230705.1:p.Ser23Phe",
        "hgvsWellDefined": "NP_001230705.1:p.Ser23Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826337555",
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "referenceAllele": "C",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243777.2:c.95C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230706.1:p.Ser32Phe",
        "hgvsWellDefined": "NP_001230706.1:p.Ser32Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043859",
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001363604.2:c.14C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350533.1:p.Ser5Phe",
        "hgvsWellDefined": "NP_001350533.1:p.Ser5Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720762"
    }
  ],
  "type": "nucleotide"
}