{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA046692",
  "communityStandardTitle": [
    "NM_000455.5(STK11):c.248A>G (p.Lys83Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=232074[alleleid]",
        "alleleId": 232074,
        "preferredName": "NM_000455.5(STK11):c.248A>G (p.Lys83Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/234584",
        "RCV": [
          "RCV000217408",
          "RCV000539793",
          "RCV000565378"
        ],
        "variationId": 234584
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-1207160-A-G",
        "id": "19-1207160-A-G",
        "variant": "19:1207160 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1207160A>G?assembly=hg19",
        "id": "chr19:g.1207160A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1207161A>G?assembly=hg38",
        "id": "chr19:g.1207161A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374006397",
        "rs": 374006397
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1207160-A-G?dataset=gnomad_r2_1",
        "id": "19-1207160-A-G",
        "variant": "19:1207160 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1207161-A-G?dataset=gnomad_r4",
        "id": "19-1207161-A-G",
        "variant": "19:1207161 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 1207161,
          "referenceAllele": "A",
          "start": 1207160
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1207161A>G",
        "CM000681.2:g.1207161A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 1207160,
          "referenceAllele": "A",
          "start": 1207159
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1207160A>G",
        "CM000681.1:g.1207160A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 1158160,
          "referenceAllele": "A",
          "start": 1158159
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1158160A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22755,
          "referenceAllele": "A",
          "start": 22754
        }
      ],
      "hgvs": [
        "NG_007460.2:g.22755A>G",
        "LRG_319:g.22755A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000586"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1384,
          "referenceAllele": "A",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.3:c.248A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490268.2:p.Lys83Arg",
        "hgvsWellDefined": "ENSP00000490268.2:p.Lys83Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "endIntronDirection": "-",
          "endIntronOffset": 11255,
          "referenceAllele": "A",
          "start": 599,
          "startIntronDirection": "-",
          "startIntronOffset": 11256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585748.3:c.-82-11256A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477641.2:n.-82-11256A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.2:c.248A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.2:p.Lys83Arg",
        "hgvsWellDefined": "ENSP00000467912.2:p.Lys83Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1384,
          "referenceAllele": "A",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.12:c.248A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Lys83Arg",
        "hgvsWellDefined": "ENSP00000324856.6:p.Lys83Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.248A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.248A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Lys83Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Lys83Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 976,
          "referenceAllele": "A",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000652231.1:c.248A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498804.1:p.Lys83Arg",
        "hgvsWellDefined": "ENSP00000498804.1:p.Lys83Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 698,
          "referenceAllele": "A",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.11:c.248A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Lys83Arg",
        "hgvsWellDefined": "ENSP00000324856.6:p.Lys83Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "endIntronDirection": "-",
          "endIntronOffset": 11255,
          "referenceAllele": "A",
          "start": 599,
          "startIntronDirection": "-",
          "startIntronOffset": 11256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585748.2:c.-82-11256A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477641.1:n.-82-11256A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.1:c.248A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.1:p.Lys83Arg",
        "hgvsWellDefined": "ENSP00000467912.1:p.Lys83Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1208,
          "referenceAllele": "A",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586243.5:c.248A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467240.2:p.Lys83Arg",
        "hgvsWellDefined": "ENSP00000467240.2:p.Lys83Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 71,
          "referenceAllele": "A",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586358.5:n.71A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 338,
          "referenceAllele": "A",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000589152.5:n.338A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 346,
          "referenceAllele": "A",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000593219.5:c.248A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466610.1:p.Lys83Arg",
        "hgvsWellDefined": "ENSP00000466610.1:p.Lys83Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645459786",
      "coordinates": [
        {
          "allele": "G",
          "end": 1363,
          "referenceAllele": "A",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.4:c.248A>G",
        "LRG_319t1:c.248A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Lys83Arg",
        "hgvsWellDefined": "NP_000446.1:p.Lys83Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006517"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.1:c.248A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Lys83Arg",
        "hgvsWellDefined": "XP_005259674.1:p.Lys83Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259618.3:c.248A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259675.1:p.Lys83Arg",
        "hgvsWellDefined": "XP_005259675.1:p.Lys83Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062495"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.1:c.-106A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:n.-106A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_936204.1:n.873A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.3:c.248A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Lys83Arg",
        "hgvsWellDefined": "XP_005259674.1:p.Lys83Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.2:c.-106A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:n.-106A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753738.2:n.873A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753739.1:n.873A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "referenceAllele": "A",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753740.2:n.873A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645459786",
      "coordinates": [
        {
          "allele": "G",
          "end": 1384,
          "referenceAllele": "A",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.5:c.248A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Lys83Arg",
        "hgvsWellDefined": "NP_000446.1:p.Lys83Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.248A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.248A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Lys83Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Lys83Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}