{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6239769",
  "communityStandardTitle": [
    "NM_014679.5(CEP57):c.1273C>T (p.Leu425=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=567575[alleleid]",
        "alleleId": 567575,
        "preferredName": "NM_014679.5(CEP57):c.1273C>T (p.Leu425=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/575506",
        "RCV": [
          "RCV000697740"
        ],
        "variationId": 575506
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-95564190-C-T",
        "id": "11-95564190-C-T",
        "variant": "11:95564190 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.95564190C>T?assembly=hg19",
        "id": "chr11:g.95564190C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.95831026C>T?assembly=hg38",
        "id": "chr11:g.95831026C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758465541",
        "rs": 758465541
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-95831026-C-T?dataset=gnomad_r3",
        "id": "11-95831026-C-T",
        "variant": "11:95831026 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-95831026-C-T?dataset=gnomad_r4",
        "id": "11-95831026-C-T",
        "variant": "11:95831026 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 95831026,
          "referenceAllele": "C",
          "start": 95831025
        }
      ],
      "hgvs": [
        "NC_000011.10:g.95831026C>T",
        "CM000673.2:g.95831026C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 95564190,
          "referenceAllele": "C",
          "start": 95564189
        }
      ],
      "hgvs": [
        "NC_000011.9:g.95564190C>T",
        "CM000673.1:g.95564190C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 95203838,
          "referenceAllele": "C",
          "start": 95203837
        }
      ],
      "hgvs": [
        "NC_000011.8:g.95203838C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98182,
          "referenceAllele": "G",
          "start": 98181
        }
      ],
      "hgvs": [
        "NG_008333.1:g.98182G>A",
        "LRG_257:g.98182G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45566,
          "referenceAllele": "C",
          "start": 45565
        }
      ],
      "hgvs": [
        "NG_029829.1:g.45566C>T",
        "LRG_526:g.45566C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004693"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000325542.10:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317902.5:p.Leu425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325542.10:c.1273C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014679.5:c.1273C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317902.5:p.Leu425="
          },
          "RefSeq": {
            "hgvs": "NP_055494.2:p.Leu425="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2329,
          "referenceAllele": "G",
          "start": 2328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007450",
      "geneNCBI_id": 8898,
      "geneSymbol": "MTMR2",
      "hgvs": [
        "ENST00000675896.1:c.*1950G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502487.1:n.*1950G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000325486.9:c.1195C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317487.5:p.Leu399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000325542.9:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000317902.5:p.Leu425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 641,
          "referenceAllele": "C",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000535224.1:c.641C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1406,
          "referenceAllele": "C",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000537677.5:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441392.1:p.Leu398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2491,
          "referenceAllele": "C",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000538158.1:n.2491C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "referenceAllele": "C",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000539855.5:c.*1052C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437422.1:n.*1052C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "C",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000540830.5:c.*1037C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440996.1:n.*1037C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "ENST00000541150.5:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443436.1:p.Leu416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362780"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826337331",
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "C",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243776.1:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230705.1:p.Leu416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826338086",
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243777.1:c.1195C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230706.1:p.Leu399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829769536",
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_014679.4:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055494.2:p.Leu425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1394,
          "referenceAllele": "C",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_006718945.2:c.1156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719008.1:p.Leu386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1325,
          "referenceAllele": "C",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_006718946.2:c.1087C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719009.1:p.Leu363="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072860"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828099821",
      "coordinates": [
        {
          "allele": "T",
          "end": 1824,
          "referenceAllele": "C",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001363604.1:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350533.1:p.Leu398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_006718945.3:c.1156C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719008.1:p.Leu386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_006718946.3:c.1087C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719009.1:p.Leu363="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2701,
          "referenceAllele": "C",
          "start": 2700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_017018592.1:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874081.1:p.Leu416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_017018593.2:c.1078C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874082.1:p.Leu360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1198,
          "referenceAllele": "C",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_017018594.2:c.970C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874083.1:p.Leu324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1424,
          "referenceAllele": "C",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XM_024448779.1:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304547.1:p.Leu359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1914,
          "referenceAllele": "C",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "XR_001748050.2:n.1914C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596115"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829769536",
      "coordinates": [
        {
          "allele": "T",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_014679.5:c.1273C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055494.2:p.Leu425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668449",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325542.10:c.1273C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014679.5:c.1273C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317902.5:p.Leu425="
          },
          "RefSeq": {
            "hgvs": "NP_055494.2:p.Leu425="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826337331",
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243776.2:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230705.1:p.Leu416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826338086",
      "coordinates": [
        {
          "allele": "T",
          "end": 1396,
          "referenceAllele": "C",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243777.2:c.1195C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230706.1:p.Leu399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828099821",
      "coordinates": [
        {
          "allele": "T",
          "end": 1787,
          "referenceAllele": "C",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001363604.2:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350533.1:p.Leu398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720762"
    }
  ],
  "type": "nucleotide"
}