{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10583793",
  "communityStandardTitle": [
    "NM_000455.5(STK11):c.1245C>T (p.Arg415=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243307[alleleid]",
        "alleleId": 243307,
        "preferredName": "NM_000455.5(STK11):c.1245C>T (p.Arg415=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/237792",
        "RCV": [
          "RCV000234173",
          "RCV000562946"
        ],
        "variationId": 237792
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1226589C>T?assembly=hg19",
        "id": "chr19:g.1226589C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1226590C>T?assembly=hg38",
        "id": "chr19:g.1226590C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/878853985",
        "rs": 878853985
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1226589-C-T?dataset=gnomad_r2_1",
        "id": "19-1226589-C-T",
        "variant": "19:1226589 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1226590-C-T?dataset=gnomad_r4",
        "id": "19-1226590-C-T",
        "variant": "19:1226590 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1226590,
          "referenceAllele": "C",
          "start": 1226589
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1226590C>T",
        "CM000681.2:g.1226590C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1226589,
          "referenceAllele": "C",
          "start": 1226588
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1226589C>T",
        "CM000681.1:g.1226589C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1177589,
          "referenceAllele": "C",
          "start": 1177588
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1177589C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42184,
          "referenceAllele": "C",
          "start": 42183
        }
      ],
      "hgvs": [
        "NG_007460.2:g.42184C>T",
        "LRG_319:g.42184C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000586"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5197,
          "referenceAllele": "C",
          "start": 5196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.3:c.*2846C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490268.2:n.*2846C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585748.3:c.873C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477641.2:p.Arg291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1116,
          "referenceAllele": "C",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.2:c.1071C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.2:p.Arg357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2381,
          "referenceAllele": "C",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.12:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Arg415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.1245C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.1245C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Arg415="
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Arg415="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "C",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.11:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Arg415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2978,
          "referenceAllele": "C",
          "start": 2977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.2:n.2978C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2204,
          "referenceAllele": "C",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586243.5:c.1244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467240.2:p.Ala415Val",
        "hgvsWellDefined": "ENSP00000467240.2:p.Ala415Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1943,
          "referenceAllele": "C",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000589152.5:n.1943C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144624",
      "coordinates": [
        {
          "allele": "T",
          "end": 2360,
          "referenceAllele": "C",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.4:c.1245C>T",
        "LRG_319t1:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Arg415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1865,
          "referenceAllele": "C",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.1:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Gln414Ter",
        "hgvsWellDefined": "XP_005259674.1:p.Gln414_Lys600delinsGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1996,
          "referenceAllele": "C",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.1:c.1018C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Gln340Ter",
        "hgvsWellDefined": "XP_011526511.1:p.Gln340_Lys526delinsGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1865,
          "referenceAllele": "C",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.3:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Gln414Ter",
        "hgvsWellDefined": "XP_005259674.1:p.Gln414_Lys600delinsGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1996,
          "referenceAllele": "C",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.2:c.1018C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Gln340Ter",
        "hgvsWellDefined": "XP_011526511.1:p.Gln340_Lys526delinsGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2051,
          "referenceAllele": "C",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753738.2:n.2051C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2021,
          "referenceAllele": "C",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753740.2:n.2021C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144624",
      "coordinates": [
        {
          "allele": "T",
          "end": 2381,
          "referenceAllele": "C",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.5:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Arg415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.1245C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.1245C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Arg415="
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Arg415="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}