{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10581014",
  "communityStandardTitle": [
    "NM_000455.5(STK11):c.991C>T (p.Arg331Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=236576[alleleid]",
        "alleleId": 236576,
        "preferredName": "NM_000455.5(STK11):c.991C>T (p.Arg331Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/230490",
        "RCV": [
          "RCV000217573",
          "RCV000460876",
          "RCV001293583",
          "RCV003477719"
        ],
        "variationId": 230490
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1223054C>T?assembly=hg19",
        "id": "chr19:g.1223054C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1223055C>T?assembly=hg38",
        "id": "chr19:g.1223055C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876658594",
        "rs": 876658594
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1223054-C-T?dataset=gnomad_r2_1",
        "id": "19-1223054-C-T",
        "variant": "19:1223054 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1223055-C-T?dataset=gnomad_r3",
        "id": "19-1223055-C-T",
        "variant": "19:1223055 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1223055-C-T?dataset=gnomad_r4",
        "id": "19-1223055-C-T",
        "variant": "19:1223055 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1223055,
          "referenceAllele": "C",
          "start": 1223054
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1223055C>T",
        "CM000681.2:g.1223055C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1223054,
          "referenceAllele": "C",
          "start": 1223053
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1223054C>T",
        "CM000681.1:g.1223054C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1174054,
          "referenceAllele": "C",
          "start": 1174053
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1174054C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38649,
          "referenceAllele": "C",
          "start": 38648
        }
      ],
      "hgvs": [
        "NG_007460.2:g.38649C>T",
        "LRG_319:g.38649C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000586"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.3:c.991C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490268.2:p.Arg331Trp",
        "hgvsWellDefined": "ENSP00000490268.2:p.Arg331Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585748.3:c.619C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477641.2:p.Arg207Trp",
        "hgvsWellDefined": "ENSP00000477641.2:p.Arg207Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "C",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.2:c.817C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.2:p.Arg273Trp",
        "hgvsWellDefined": "ENSP00000467912.2:p.Arg273Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.12:c.991C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Arg331Trp",
        "hgvsWellDefined": "ENSP00000324856.6:p.Arg331Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.991C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.991C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Arg331Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Arg331Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1719,
          "referenceAllele": "C",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000652231.1:c.991C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498804.1:p.Arg331Trp",
        "hgvsWellDefined": "ENSP00000498804.1:p.Arg331Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1441,
          "referenceAllele": "C",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.11:c.991C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Arg331Trp",
        "hgvsWellDefined": "ENSP00000324856.6:p.Arg331Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586243.5:c.991C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467240.2:p.Arg331Trp",
        "hgvsWellDefined": "ENSP00000467240.2:p.Arg331Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1689,
          "referenceAllele": "C",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000589152.5:n.1689C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 962,
          "referenceAllele": "C",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000591133.2:n.962C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645459939",
      "coordinates": [
        {
          "allele": "T",
          "end": 2106,
          "referenceAllele": "C",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.4:c.991C>T",
        "LRG_319t1:c.991C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Arg331Trp",
        "hgvsWellDefined": "NP_000446.1:p.Arg331Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1616,
          "referenceAllele": "C",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.1:c.991C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Arg331Trp",
        "hgvsWellDefined": "XP_005259674.1:p.Arg331Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1616,
          "referenceAllele": "C",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259618.3:c.991C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259675.1:p.Arg331Trp",
        "hgvsWellDefined": "XP_005259675.1:p.Arg331Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1747,
          "referenceAllele": "C",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.1:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Arg257Trp",
        "hgvsWellDefined": "XP_011526511.1:p.Arg257Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1767,
          "referenceAllele": "C",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_936204.1:n.1767C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1616,
          "referenceAllele": "C",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.3:c.991C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Arg331Trp",
        "hgvsWellDefined": "XP_005259674.1:p.Arg331Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1747,
          "referenceAllele": "C",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.2:c.769C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Arg257Trp",
        "hgvsWellDefined": "XP_011526511.1:p.Arg257Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1797,
          "referenceAllele": "C",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753738.2:n.1797C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1797,
          "referenceAllele": "C",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753739.1:n.1797C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1767,
          "referenceAllele": "C",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753740.2:n.1767C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645459939",
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.5:c.991C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Arg331Trp",
        "hgvsWellDefined": "NP_000446.1:p.Arg331Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.991C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.991C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Arg331Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Arg331Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}