{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA023082",
  "communityStandardTitle": [
    "NM_000455.5(STK11):c.566C>T (p.Thr189Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150842[alleleid]",
        "alleleId": 150842,
        "preferredName": "NM_000455.5(STK11):c.566C>T (p.Thr189Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141128",
        "RCV": [
          "RCV000129498",
          "RCV000204187",
          "RCV000220770",
          "RCV000587196",
          "RCV000765431",
          "RCV001030732"
        ],
        "variationId": 141128
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-1220473-C-T",
        "id": "19-1220473-C-T",
        "variant": "19:1220473 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1220473C>T?assembly=hg19",
        "id": "chr19:g.1220473C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1220474C>T?assembly=hg38",
        "id": "chr19:g.1220474C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587781515",
        "rs": 587781515
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1220473-C-T?dataset=gnomad_r2_1",
        "id": "19-1220473-C-T",
        "variant": "19:1220473 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1220474-C-T?dataset=gnomad_r3",
        "id": "19-1220474-C-T",
        "variant": "19:1220474 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1220474-C-T?dataset=gnomad_r4",
        "id": "19-1220474-C-T",
        "variant": "19:1220474 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1220474,
          "referenceAllele": "C",
          "start": 1220473
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1220474C>T",
        "CM000681.2:g.1220474C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1220473,
          "referenceAllele": "C",
          "start": 1220472
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1220473C>T",
        "CM000681.1:g.1220473C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1171473,
          "referenceAllele": "C",
          "start": 1171472
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1171473C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36068,
          "referenceAllele": "C",
          "start": 36067
        }
      ],
      "hgvs": [
        "NG_007460.2:g.36068C>T",
        "LRG_319:g.36068C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000586"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.3:c.566C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490268.2:p.Thr189Ile",
        "hgvsWellDefined": "ENSP00000490268.2:p.Thr189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585748.3:c.194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477641.2:p.Thr65Ile",
        "hgvsWellDefined": "ENSP00000477641.2:p.Thr65Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.2:c.392C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.2:p.Thr131Ile",
        "hgvsWellDefined": "ENSP00000467912.2:p.Thr131Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.12:c.566C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Thr189Ile",
        "hgvsWellDefined": "ENSP00000324856.6:p.Thr189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.566C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.566C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Thr189Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Thr189Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000652231.1:c.566C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498804.1:p.Thr189Ile",
        "hgvsWellDefined": "ENSP00000498804.1:p.Thr189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.11:c.566C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Thr189Ile",
        "hgvsWellDefined": "ENSP00000324856.6:p.Thr189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.1:c.392C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.1:p.Thr131Ile",
        "hgvsWellDefined": "ENSP00000467912.1:p.Thr131Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1526,
          "referenceAllele": "C",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586243.5:c.566C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467240.2:p.Thr189Ile",
        "hgvsWellDefined": "ENSP00000467240.2:p.Thr189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586358.5:n.389C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000589152.5:n.656C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000591133.2:n.462C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA164545",
      "coordinates": [
        {
          "allele": "T",
          "end": 1681,
          "referenceAllele": "C",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.4:c.566C>T",
        "LRG_319t1:c.566C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Thr189Ile",
        "hgvsWellDefined": "NP_000446.1:p.Thr189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.1:c.566C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Thr189Ile",
        "hgvsWellDefined": "XP_005259674.1:p.Thr189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259618.3:c.566C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259675.1:p.Thr189Ile",
        "hgvsWellDefined": "XP_005259675.1:p.Thr189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.1:c.344C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Thr115Ile",
        "hgvsWellDefined": "XP_011526511.1:p.Thr115Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_936204.1:n.1191C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.3:c.566C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Thr189Ile",
        "hgvsWellDefined": "XP_005259674.1:p.Thr189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.2:c.344C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Thr115Ile",
        "hgvsWellDefined": "XP_011526511.1:p.Thr115Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753738.2:n.1191C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753739.1:n.1191C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753740.2:n.1191C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA164545",
      "coordinates": [
        {
          "allele": "T",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.5:c.566C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Thr189Ile",
        "hgvsWellDefined": "NP_000446.1:p.Thr189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.566C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.566C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Thr189Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Thr189Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}