{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382437155",
  "communityStandardTitle": [
    "NM_000926.4(PGR):c.1978G>C (p.Val660Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.100933412C>G?assembly=hg19",
        "id": "chr11:g.100933412C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.101062681C>G?assembly=hg38",
        "id": "chr11:g.101062681C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1042838",
        "rs": 1042838
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-100933412-C-G?dataset=gnomad_r2_1",
        "id": "11-100933412-C-G",
        "variant": "11:100933412 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-101062681-C-G?dataset=gnomad_r4",
        "id": "11-101062681-C-G",
        "variant": "11:101062681 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 101062681,
          "referenceAllele": "C",
          "start": 101062680
        }
      ],
      "hgvs": [
        "NC_000011.10:g.101062681C>G",
        "CM000673.2:g.101062681C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 100933412,
          "referenceAllele": "C",
          "start": 100933411
        }
      ],
      "hgvs": [
        "NC_000011.9:g.100933412C>G",
        "CM000673.1:g.100933412C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 100438622,
          "referenceAllele": "C",
          "start": 100438621
        }
      ],
      "hgvs": [
        "NC_000011.8:g.100438622C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72133,
          "referenceAllele": "G",
          "start": 72132
        }
      ],
      "hgvs": [
        "NG_016475.1:g.72133G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003207"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2721,
          "referenceAllele": "G",
          "start": 2720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "ENST00000325455.10:c.1978G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325120.5:p.Val660Leu",
        "hgvsWellDefined": "ENSP00000325120.5:p.Val660Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325455.10:c.1978G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000926.4:c.1978G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325120.5:p.Val660Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000917.3:p.Val660Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "endIntronDirection": "-",
          "endIntronOffset": 11112,
          "referenceAllele": "G",
          "start": 1906,
          "startIntronDirection": "-",
          "startIntronOffset": 11113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "ENST00000263463.9:c.1907-11113G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263463.5:n.1907-11113G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3432,
          "referenceAllele": "G",
          "start": 3431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "ENST00000325455.9:c.1978G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325120.5:p.Val660Leu",
        "hgvsWellDefined": "ENSP00000325120.5:p.Val660Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "endIntronDirection": "-",
          "endIntronOffset": 11112,
          "referenceAllele": "G",
          "start": 1906,
          "startIntronDirection": "-",
          "startIntronOffset": 11113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "ENST00000526300.5:c.1907-11113G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436803.1:n.1907-11113G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1861,
          "referenceAllele": "G",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "ENST00000528960.5:c.1861G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432914.1:p.Val621Leu",
        "hgvsWellDefined": "ENSP00000432914.1:p.Val621Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1345,
          "referenceAllele": "G",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "ENST00000533207.5:n.1345G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "G",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "ENST00000534013.5:c.196G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436561.1:p.Val66Leu",
        "hgvsWellDefined": "ENSP00000436561.1:p.Val66Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1978,
          "referenceAllele": "G",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "ENST00000534780.5:c.1978G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432352.1:p.Val660Leu",
        "hgvsWellDefined": "ENSP00000432352.1:p.Val660Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2649,
          "endIntronDirection": "-",
          "endIntronOffset": 11112,
          "referenceAllele": "G",
          "start": 2649,
          "startIntronDirection": "-",
          "startIntronOffset": 11113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "ENST00000617858.4:c.1907-11113G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481227.1:n.1907-11113G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2604,
          "referenceAllele": "G",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "ENST00000619228.2:c.1861G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482698.1:p.Val621Leu",
        "hgvsWellDefined": "ENSP00000482698.1:p.Val621Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "ENST00000632634.1:c.400G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487607.1:p.Val134Leu",
        "hgvsWellDefined": "ENSP00000487607.1:p.Val134Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407596"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077689085",
      "coordinates": [
        {
          "allele": "C",
          "end": 2721,
          "referenceAllele": "G",
          "start": 2720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "NM_000926.4:c.1978G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000917.3:p.Val660Leu",
        "hgvsWellDefined": "NP_000917.3:p.Val660Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006951",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325455.10:c.1978G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000926.4:c.1978G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325120.5:p.Val660Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000917.3:p.Val660Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1971,
          "referenceAllele": "G",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "NM_001202474.3:c.1486G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189403.1:p.Val496Leu",
        "hgvsWellDefined": "NP_001189403.1:p.Val496Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1899,
          "endIntronDirection": "-",
          "endIntronOffset": 11112,
          "referenceAllele": "G",
          "start": 1899,
          "startIntronDirection": "-",
          "startIntronOffset": 11113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "NM_001271161.2:c.1415-11113G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258090.1:n.1415-11113G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "G",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "NM_001271162.1:c.196G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258091.1:p.Val66Leu",
        "hgvsWellDefined": "NP_001258091.1:p.Val66Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020504"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1971,
          "referenceAllele": "G",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "NR_073141.2:n.1971G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1854,
          "referenceAllele": "G",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "NR_073142.2:n.1854G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052519"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1899,
          "endIntronDirection": "-",
          "endIntronOffset": 11112,
          "referenceAllele": "G",
          "start": 1899,
          "startIntronDirection": "-",
          "startIntronOffset": 11113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "NR_073143.2:n.1900-11113G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3537,
          "referenceAllele": "G",
          "start": 3536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "XM_006718858.2:c.1978G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718921.1:p.Val660Leu",
        "hgvsWellDefined": "XP_006718921.1:p.Val660Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3550,
          "referenceAllele": "G",
          "start": 3549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "XR_947831.1:n.3550G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3571,
          "referenceAllele": "G",
          "start": 3570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "XM_006718858.3:c.1978G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718921.1:p.Val660Leu",
        "hgvsWellDefined": "XP_006718921.1:p.Val660Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539726"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "NM_001271162.2:c.196G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258091.1:p.Val66Leu",
        "hgvsWellDefined": "NP_001258091.1:p.Val66Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1985,
          "referenceAllele": "G",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "NR_073141.3:n.1985G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1868,
          "referenceAllele": "G",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "NR_073142.3:n.1868G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1913,
          "endIntronDirection": "-",
          "endIntronOffset": 11112,
          "referenceAllele": "G",
          "start": 1913,
          "startIntronDirection": "-",
          "startIntronOffset": 11113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008910",
      "geneNCBI_id": 5241,
      "geneSymbol": "PGR",
      "hgvs": [
        "NR_073143.3:n.1914-11113G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730523"
    }
  ],
  "type": "nucleotide"
}