{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA022623",
  "communityStandardTitle": [
    "NM_000455.5(STK11):c.1296G>A (p.Gln432=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=143042[alleleid]",
        "alleleId": 143042,
        "preferredName": "NM_000455.5(STK11):c.1296G>A (p.Gln432=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/139339",
        "RCV": [
          "RCV000128305",
          "RCV000213036",
          "RCV000588407",
          "RCV001079439",
          "RCV003492578"
        ],
        "variationId": 139339
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-1226640-G-A",
        "id": "19-1226640-G-A",
        "variant": "19:1226640 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1226640G>A?assembly=hg19",
        "id": "chr19:g.1226640G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1226641G>A?assembly=hg38",
        "id": "chr19:g.1226641G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587781179",
        "rs": 587781179
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1226640-G-A?dataset=gnomad_r2_1",
        "id": "19-1226640-G-A",
        "variant": "19:1226640 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1226641-G-A?dataset=gnomad_r3",
        "id": "19-1226641-G-A",
        "variant": "19:1226641 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1226641-G-A?dataset=gnomad_r4",
        "id": "19-1226641-G-A",
        "variant": "19:1226641 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 1226641,
          "referenceAllele": "G",
          "start": 1226640
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1226641G>A",
        "CM000681.2:g.1226641G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 1226640,
          "referenceAllele": "G",
          "start": 1226639
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1226640G>A",
        "CM000681.1:g.1226640G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 1177640,
          "referenceAllele": "G",
          "start": 1177639
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1177640G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42235,
          "referenceAllele": "G",
          "start": 42234
        }
      ],
      "hgvs": [
        "NG_007460.2:g.42235G>A",
        "LRG_319:g.42235G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000586"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5248,
          "referenceAllele": "G",
          "start": 5247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.3:c.*2897G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490268.2:n.*2897G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1605,
          "referenceAllele": "G",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585748.3:c.924G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477641.2:p.Gln308="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.2:c.1122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.2:p.Gln374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2432,
          "referenceAllele": "G",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.12:c.1296G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Gln432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.1296G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.1296G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Gln432="
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Gln432="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1746,
          "referenceAllele": "G",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.11:c.1296G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Gln432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3029,
          "referenceAllele": "G",
          "start": 3028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.2:n.3029G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2253,
          "referenceAllele": "G",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586243.5:c.1293G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467240.2:p.Gln431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1994,
          "referenceAllele": "G",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000589152.5:n.1994G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144699",
      "coordinates": [
        {
          "allele": "A",
          "end": 2411,
          "referenceAllele": "G",
          "start": 2410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.4:c.1296G>A",
        "LRG_319t1:c.1296G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Gln432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1916,
          "referenceAllele": "G",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.1:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Ala431Thr",
        "hgvsWellDefined": "XP_005259674.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2047,
          "referenceAllele": "G",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.1:c.1069G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Ala357Thr",
        "hgvsWellDefined": "XP_011526511.1:p.Ala357Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1916,
          "referenceAllele": "G",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.3:c.1291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Ala431Thr",
        "hgvsWellDefined": "XP_005259674.1:p.Ala431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2047,
          "referenceAllele": "G",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.2:c.1069G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Ala357Thr",
        "hgvsWellDefined": "XP_011526511.1:p.Ala357Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2102,
          "referenceAllele": "G",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753738.2:n.2102G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2072,
          "referenceAllele": "G",
          "start": 2071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753740.2:n.2072G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144699",
      "coordinates": [
        {
          "allele": "A",
          "end": 2432,
          "referenceAllele": "G",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.5:c.1296G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Gln432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.1296G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.1296G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Gln432="
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Gln432="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}