{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2086634",
  "communityStandardTitle": [
    "NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4480499",
        "active": true,
        "id": "COSM4480499"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4480500",
        "active": true,
        "id": "COSM4480500"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=450459[alleleid]",
        "alleleId": 450459,
        "preferredName": "NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/477851",
        "RCV": [
          "RCV000552829",
          "RCV002298663"
        ],
        "variationId": 477851
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-211476856-C-T",
        "id": "2-211476856-C-T",
        "variant": "2:211476856 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.211476856C>T?assembly=hg19",
        "id": "chr2:g.211476856C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.210612132C>T?assembly=hg38",
        "id": "chr2:g.210612132C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201716417",
        "rs": 201716417
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-211476856-C-T?dataset=gnomad_r2_1",
        "id": "2-211476856-C-T",
        "variant": "2:211476856 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-210612132-C-T?dataset=gnomad_r3",
        "id": "2-210612132-C-T",
        "variant": "2:210612132 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-210612132-C-T?dataset=gnomad_r4",
        "id": "2-210612132-C-T",
        "variant": "2:210612132 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 210612132,
          "referenceAllele": "C",
          "start": 210612131
        }
      ],
      "hgvs": [
        "NC_000002.12:g.210612132C>T",
        "CM000664.2:g.210612132C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 211476856,
          "referenceAllele": "C",
          "start": 211476855
        }
      ],
      "hgvs": [
        "NC_000002.11:g.211476856C>T",
        "CM000664.1:g.211476856C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 211185101,
          "referenceAllele": "C",
          "start": 211185100
        }
      ],
      "hgvs": [
        "NC_000002.10:g.211185101C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 139448,
          "referenceAllele": "C",
          "start": 139447
        }
      ],
      "hgvs": [
        "NG_008285.1:g.139448C>T",
        "LRG_336:g.139448C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000999"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2542,
          "referenceAllele": "C",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "ENST00000233072.10:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233072.5:p.Arg803Cys",
        "hgvsWellDefined": "ENSP00000233072.5:p.Arg803Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740900",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233072.10:c.2407C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001875.5:c.2407C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233072.5:p.Arg803Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001866.2:p.Arg803Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2507,
          "referenceAllele": "C",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "ENST00000430249.7:c.2425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402608.2:p.Arg809Cys",
        "hgvsWellDefined": "ENSP00000402608.2:p.Arg809Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1563,
          "referenceAllele": "C",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "ENST00000451903.3:c.1054C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406136.2:p.Arg352Cys",
        "hgvsWellDefined": "ENSP00000406136.2:p.Arg352Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2627,
          "referenceAllele": "C",
          "start": 2626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "ENST00000673510.1:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500537.1:p.Arg803Cys",
        "hgvsWellDefined": "ENSP00000500537.1:p.Arg803Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2741,
          "referenceAllele": "C",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "ENST00000673630.1:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501073.1:p.Arg803Cys",
        "hgvsWellDefined": "ENSP00000501073.1:p.Arg803Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "C",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "ENST00000673698.1:c.887C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2480,
          "referenceAllele": "C",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "ENST00000673711.1:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501022.1:p.Arg803Cys",
        "hgvsWellDefined": "ENSP00000501022.1:p.Arg803Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "ENST00000674074.1:n.1552C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2603,
          "referenceAllele": "C",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "ENST00000233072.9:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233072.5:p.Arg803Cys",
        "hgvsWellDefined": "ENSP00000233072.5:p.Arg803Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2480,
          "referenceAllele": "C",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "ENST00000430249.6:c.2425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402608.2:p.Arg809Cys",
        "hgvsWellDefined": "ENSP00000402608.2:p.Arg809Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "ENST00000451903.2:c.1054C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406136.2:p.Arg352Cys",
        "hgvsWellDefined": "ENSP00000406136.2:p.Arg352Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2507,
          "referenceAllele": "C",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NM_001122633.2:c.2425C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116105.1:p.Arg809Cys",
        "hgvsWellDefined": "NP_001116105.1:p.Arg809Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1563,
          "referenceAllele": "C",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NM_001122634.3:c.1054C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116106.1:p.Arg352Cys",
        "hgvsWellDefined": "NP_001116106.1:p.Arg352Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099012",
      "coordinates": [
        {
          "allele": "T",
          "end": 2542,
          "referenceAllele": "C",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NM_001875.4:c.2407C>T",
        "LRG_336t1:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001866.2:p.Arg803Cys",
        "hgvsWellDefined": "NP_001866.2:p.Arg803Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2741,
          "referenceAllele": "C",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "XM_011510640.1:c.2440C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508942.1:p.Arg814Cys",
        "hgvsWellDefined": "XP_011508942.1:p.Arg814Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2881,
          "referenceAllele": "C",
          "start": 2880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "XM_011510641.1:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508943.1:p.Arg803Cys",
        "hgvsWellDefined": "XP_011508943.1:p.Arg803Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2753,
          "referenceAllele": "C",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "XM_011510642.1:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508944.1:p.Arg803Cys",
        "hgvsWellDefined": "XP_011508944.1:p.Arg803Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2620,
          "referenceAllele": "C",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "XM_011510643.1:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508945.1:p.Arg803Cys",
        "hgvsWellDefined": "XP_011508945.1:p.Arg803Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2659,
          "referenceAllele": "C",
          "start": 2658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "XM_011510644.1:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508946.1:p.Arg803Cys",
        "hgvsWellDefined": "XP_011508946.1:p.Arg803Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825584323",
      "coordinates": [
        {
          "allele": "T",
          "end": 2504,
          "referenceAllele": "C",
          "start": 2503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NM_001122633.3:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116105.2:p.Arg803Cys",
        "hgvsWellDefined": "NP_001116105.2:p.Arg803Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916047616",
      "coordinates": [
        {
          "allele": "T",
          "end": 2489,
          "referenceAllele": "C",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NM_001369256.1:c.2440C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356185.1:p.Arg814Cys",
        "hgvsWellDefined": "NP_001356185.1:p.Arg814Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828315498",
      "coordinates": [
        {
          "allele": "T",
          "end": 2624,
          "referenceAllele": "C",
          "start": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NM_001369257.1:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356186.1:p.Arg803Cys",
        "hgvsWellDefined": "NP_001356186.1:p.Arg803Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099012",
      "coordinates": [
        {
          "allele": "T",
          "end": 2542,
          "referenceAllele": "C",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NM_001875.5:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001866.2:p.Arg803Cys",
        "hgvsWellDefined": "NP_001866.2:p.Arg803Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695391",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233072.10:c.2407C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001875.5:c.2407C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233072.5:p.Arg803Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001866.2:p.Arg803Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3316,
          "referenceAllele": "C",
          "start": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NR_161225.1:n.3316C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1563,
          "referenceAllele": "C",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002323",
      "geneNCBI_id": 1373,
      "geneSymbol": "CPS1",
      "hgvs": [
        "NR_163592.1:n.1563C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705578"
    }
  ],
  "type": "nucleotide"
}