{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA467191141",
  "communityStandardTitle": [
    "NM_000962.4(PTGS1):c.709C>T (p.Leu237=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.125143973C>T?assembly=hg19",
        "id": "chr9:g.125143973C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5789",
        "rs": 5789
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-122381694-C-T?dataset=gnomad_r4",
        "id": "9-122381694-C-T",
        "variant": "9:122381694 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 122381694,
          "referenceAllele": "C",
          "start": 122381693
        }
      ],
      "hgvs": [
        "NC_000009.12:g.122381694C>T",
        "CM000671.2:g.122381694C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 125143973,
          "referenceAllele": "C",
          "start": 125143972
        }
      ],
      "hgvs": [
        "NC_000009.11:g.125143973C>T",
        "CM000671.1:g.125143973C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 124183794,
          "referenceAllele": "C",
          "start": 124183793
        }
      ],
      "hgvs": [
        "NC_000009.10:g.124183794C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15745,
          "referenceAllele": "C",
          "start": 15744
        }
      ],
      "hgvs": [
        "NG_032900.1:g.15745C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000362012.7:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354612.2:p.Leu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749581",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362012.7:c.709C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000962.4:c.709C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354612.2:p.Leu237="
          },
          "RefSeq": {
            "hgvs": "NP_000953.2:p.Leu237="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "C",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000373698.7:c.382C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362802.5:p.Leu128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000426608.6:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411606.2:p.Leu134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000540753.6:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437709.1:p.Leu212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000619306.5:c.565C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483540.2:p.Leu189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000643576.1:n.803C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000643810.1:c.382C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494717.1:p.Leu128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "endIntronDirection": "+",
          "endIntronOffset": 3121,
          "referenceAllele": "C",
          "start": 519,
          "startIntronDirection": "+",
          "startIntronOffset": 3120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000645132.1:n.519+3121C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000647067.1:c.*554C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495728.1:n.*554C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000223423.8:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223423.4:p.Leu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000362012.6:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354612.2:p.Leu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "C",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000373698.6:c.382C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362802.5:p.Leu128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000426608.5:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411606.1:p.Leu131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000540753.5:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437709.1:p.Leu212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000614910.4:c.565C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484800.1:p.Leu189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "ENST00000619306.4:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483540.1:p.Leu268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404328"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075608511",
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "referenceAllele": "C",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_000962.3:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000953.2:p.Leu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_001271164.1:c.565C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258093.1:p.Leu189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "C",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_001271165.1:c.382C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258094.1:p.Leu128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_001271166.1:c.382C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258095.1:p.Leu128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_001271367.1:c.382C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258296.1:p.Leu128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_001271368.1:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258297.1:p.Leu212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 789,
          "referenceAllele": "C",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_080591.2:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542158.1:p.Leu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "XM_005252105.2:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252162.1:p.Leu212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "XM_011518875.1:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517177.1:p.Leu212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4835,
          "referenceAllele": "C",
          "start": 4834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "XM_011518876.1:c.382C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517178.1:p.Leu128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "XM_005252105.3:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252162.1:p.Leu212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "XM_011518875.2:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517177.1:p.Leu212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4835,
          "referenceAllele": "C",
          "start": 4834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "XM_011518876.2:c.382C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517178.1:p.Leu128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1549,
          "referenceAllele": "C",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "XM_024447614.1:c.382C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303382.1:p.Leu128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1550,
          "referenceAllele": "C",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "XM_024447615.1:c.382C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303383.1:p.Leu128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075608511",
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_000962.4:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000953.2:p.Leu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662673",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000362012.7:c.709C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000962.4:c.709C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354612.2:p.Leu237="
          },
          "RefSeq": {
            "hgvs": "NP_000953.2:p.Leu237="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_001271164.2:c.565C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258093.1:p.Leu189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_001271165.2:c.382C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258094.1:p.Leu128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_001271166.2:c.382C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258095.1:p.Leu128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_001271367.2:c.382C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258296.1:p.Leu128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1234,
          "referenceAllele": "C",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_001271368.2:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258297.1:p.Leu212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009604",
      "geneNCBI_id": 5742,
      "geneSymbol": "PTGS1",
      "hgvs": [
        "NM_080591.3:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542158.1:p.Leu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699514"
    }
  ],
  "type": "nucleotide"
}