{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16616046",
  "communityStandardTitle": [
    "NM_000455.5(STK11):c.1293G>A (p.Lys431=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=403244[alleleid]",
        "alleleId": 403244,
        "preferredName": "NM_000455.5(STK11):c.1293G>A (p.Lys431=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/412553",
        "RCV": [
          "RCV000470338",
          "RCV002383841"
        ],
        "variationId": 412553
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1226637G>A?assembly=hg19",
        "id": "chr19:g.1226637G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1226638G>A?assembly=hg38",
        "id": "chr19:g.1226638G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503787",
        "rs": 1060503787
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1226638-G-A?dataset=gnomad_r4",
        "id": "19-1226638-G-A",
        "variant": "19:1226638 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 1226638,
          "referenceAllele": "G",
          "start": 1226637
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1226638G>A",
        "CM000681.2:g.1226638G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 1226637,
          "referenceAllele": "G",
          "start": 1226636
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1226637G>A",
        "CM000681.1:g.1226637G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 1177637,
          "referenceAllele": "G",
          "start": 1177636
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1177637G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42232,
          "referenceAllele": "G",
          "start": 42231
        }
      ],
      "hgvs": [
        "NG_007460.2:g.42232G>A",
        "LRG_319:g.42232G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000586"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5245,
          "referenceAllele": "G",
          "start": 5244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.3:c.*2894G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490268.2:n.*2894G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1602,
          "referenceAllele": "G",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585748.3:c.921G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477641.2:p.Lys307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.2:c.1119G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.2:p.Lys373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2429,
          "referenceAllele": "G",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.12:c.1293G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Lys431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.1293G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.1293G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Lys431="
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Lys431="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.11:c.1293G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Lys431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3026,
          "referenceAllele": "G",
          "start": 3025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.2:n.3026G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2250,
          "referenceAllele": "G",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586243.5:c.1290G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467240.2:p.Lys430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1991,
          "referenceAllele": "G",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000589152.5:n.1991G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144698",
      "coordinates": [
        {
          "allele": "A",
          "end": 2408,
          "referenceAllele": "G",
          "start": 2407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.4:c.1293G>A",
        "LRG_319t1:c.1293G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Lys431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1913,
          "referenceAllele": "G",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.1:c.1288G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Ala430Thr",
        "hgvsWellDefined": "XP_005259674.1:p.Ala430Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2044,
          "referenceAllele": "G",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.1:c.1066G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Ala356Thr",
        "hgvsWellDefined": "XP_011526511.1:p.Ala356Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1913,
          "referenceAllele": "G",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.3:c.1288G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Ala430Thr",
        "hgvsWellDefined": "XP_005259674.1:p.Ala430Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2044,
          "referenceAllele": "G",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.2:c.1066G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Ala356Thr",
        "hgvsWellDefined": "XP_011526511.1:p.Ala356Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2099,
          "referenceAllele": "G",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753738.2:n.2099G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2069,
          "referenceAllele": "G",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753740.2:n.2069G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144698",
      "coordinates": [
        {
          "allele": "A",
          "end": 2429,
          "referenceAllele": "G",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.5:c.1293G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Lys431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.1293G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.1293G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Lys431="
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Lys431="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}