{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402948322",
  "communityStandardTitle": [
    "NM_000455.5(STK11):c.439C>G (p.Arg147Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2983436[alleleid]",
        "alleleId": 2983436,
        "preferredName": "NM_000455.5(STK11):c.439C>G (p.Arg147Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2827484",
        "RCV": [
          "RCV003618626"
        ],
        "variationId": 2827484
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1219387C>G?assembly=hg19",
        "id": "chr19:g.1219387C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1219388C>G?assembly=hg38",
        "id": "chr19:g.1219388C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748464757",
        "rs": 748464757
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 1219388,
          "referenceAllele": "C",
          "start": 1219387
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1219388C>G",
        "CM000681.2:g.1219388C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 1219387,
          "referenceAllele": "C",
          "start": 1219386
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1219387C>G",
        "CM000681.1:g.1219387C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 1170387,
          "referenceAllele": "C",
          "start": 1170386
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1170387C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34982,
          "referenceAllele": "C",
          "start": 34981
        }
      ],
      "hgvs": [
        "NG_007460.2:g.34982C>G",
        "LRG_319:g.34982C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000586"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1575,
          "referenceAllele": "C",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.3:c.439C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490268.2:p.Arg147Gly",
        "hgvsWellDefined": "ENSP00000490268.2:p.Arg147Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 748,
          "referenceAllele": "C",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585748.3:c.67C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477641.2:p.Arg23Gly",
        "hgvsWellDefined": "ENSP00000477641.2:p.Arg23Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 984,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.2:c.291-985C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.2:n.291-985C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1575,
          "referenceAllele": "C",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.12:c.439C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Arg147Gly",
        "hgvsWellDefined": "ENSP00000324856.6:p.Arg147Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.439C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.439C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Arg147Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Arg147Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1167,
          "referenceAllele": "C",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000652231.1:c.439C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498804.1:p.Arg147Gly",
        "hgvsWellDefined": "ENSP00000498804.1:p.Arg147Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.11:c.439C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Arg147Gly",
        "hgvsWellDefined": "ENSP00000324856.6:p.Arg147Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 984,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.1:c.291-985C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.1:n.291-985C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1399,
          "referenceAllele": "C",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586243.5:c.439C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467240.2:p.Arg147Gly",
        "hgvsWellDefined": "ENSP00000467240.2:p.Arg147Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586358.5:n.262C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000589152.5:n.529C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825143705",
      "coordinates": [
        {
          "allele": "G",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.4:c.439C>G",
        "LRG_319t1:c.439C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Arg147Gly",
        "hgvsWellDefined": "NP_000446.1:p.Arg147Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006517"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.1:c.439C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Arg147Gly",
        "hgvsWellDefined": "XP_005259674.1:p.Arg147Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259618.3:c.439C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259675.1:p.Arg147Gly",
        "hgvsWellDefined": "XP_005259675.1:p.Arg147Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062495"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.1:c.217C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Arg73Gly",
        "hgvsWellDefined": "XP_011526511.1:p.Arg73Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_936204.1:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.3:c.439C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Arg147Gly",
        "hgvsWellDefined": "XP_005259674.1:p.Arg147Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.2:c.217C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Arg73Gly",
        "hgvsWellDefined": "XP_011526511.1:p.Arg73Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753738.2:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753739.1:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753740.2:n.1064C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825143705",
      "coordinates": [
        {
          "allele": "G",
          "end": 1575,
          "referenceAllele": "C",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.5:c.439C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Arg147Gly",
        "hgvsWellDefined": "NP_000446.1:p.Arg147Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.439C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.439C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Arg147Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Arg147Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}