{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA022619",
  "communityStandardTitle": [
    "NM_000455.5(STK11):c.1290C>T (p.Cys430=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=185564[alleleid]",
        "alleleId": 185564,
        "preferredName": "NM_000455.5(STK11):c.1290C>T (p.Cys430=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/184420",
        "RCV": [
          "RCV000163674",
          "RCV001850289"
        ],
        "variationId": 184420
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1226634C>T?assembly=hg19",
        "id": "chr19:g.1226634C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1226635C>T?assembly=hg38",
        "id": "chr19:g.1226635C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786201451",
        "rs": 786201451
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1226635-C-T?dataset=gnomad_r4",
        "id": "19-1226635-C-T",
        "variant": "19:1226635 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1226635,
          "referenceAllele": "C",
          "start": 1226634
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1226635C>T",
        "CM000681.2:g.1226635C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1226634,
          "referenceAllele": "C",
          "start": 1226633
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1226634C>T",
        "CM000681.1:g.1226634C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1177634,
          "referenceAllele": "C",
          "start": 1177633
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1177634C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42229,
          "referenceAllele": "C",
          "start": 42228
        }
      ],
      "hgvs": [
        "NG_007460.2:g.42229C>T",
        "LRG_319:g.42229C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000586"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5242,
          "referenceAllele": "C",
          "start": 5241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.3:c.*2891C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490268.2:n.*2891C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1599,
          "referenceAllele": "C",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585748.3:c.918C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477641.2:p.Cys306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "referenceAllele": "C",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.2:c.1116C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.2:p.Cys372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2426,
          "referenceAllele": "C",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.12:c.1290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Cys430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.1290C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.1290C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Cys430="
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Cys430="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1740,
          "referenceAllele": "C",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.11:c.1290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Cys430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3023,
          "referenceAllele": "C",
          "start": 3022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.2:n.3023C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2247,
          "referenceAllele": "C",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586243.5:c.1287C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467240.2:p.Cys429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1988,
          "referenceAllele": "C",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000589152.5:n.1988C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144696",
      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
          "referenceAllele": "C",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.4:c.1290C>T",
        "LRG_319t1:c.1290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Cys430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.1:c.1285C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Gln429Ter",
        "hgvsWellDefined": "XP_005259674.1:p.Gln429_Lys600delinsAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2041,
          "referenceAllele": "C",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.1:c.1063C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Gln355Ter",
        "hgvsWellDefined": "XP_011526511.1:p.Gln355_Lys526delinsAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.3:c.1285C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Gln429Ter",
        "hgvsWellDefined": "XP_005259674.1:p.Gln429_Lys600delinsAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2041,
          "referenceAllele": "C",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.2:c.1063C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Gln355Ter",
        "hgvsWellDefined": "XP_011526511.1:p.Gln355_Lys526delinsAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2096,
          "referenceAllele": "C",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753738.2:n.2096C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753740.2:n.2066C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144696",
      "coordinates": [
        {
          "allele": "T",
          "end": 2426,
          "referenceAllele": "C",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.5:c.1290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Cys430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.1290C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.1290C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Cys430="
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Cys430="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}