{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402951424",
  "communityStandardTitle": [
    "NM_000455.5(STK11):c.924G>T (p.Trp308Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2905328[alleleid]",
        "alleleId": 2905328,
        "preferredName": "NM_000455.5(STK11):c.924G>T (p.Trp308Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2736757",
        "RCV": [
          "RCV003508874"
        ],
        "variationId": 2736757
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1222987G>T?assembly=hg19",
        "id": "chr19:g.1222987G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1222988G>T?assembly=hg38",
        "id": "chr19:g.1222988G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520042",
        "rs": 1057520042
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1222988-G-T?dataset=gnomad_r4",
        "id": "19-1222988-G-T",
        "variant": "19:1222988 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1222988,
          "referenceAllele": "G",
          "start": 1222987
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1222988G>T",
        "CM000681.2:g.1222988G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1222987,
          "referenceAllele": "G",
          "start": 1222986
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1222987G>T",
        "CM000681.1:g.1222987G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1173987,
          "referenceAllele": "G",
          "start": 1173986
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1173987G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38582,
          "referenceAllele": "G",
          "start": 38581
        }
      ],
      "hgvs": [
        "NG_007460.2:g.38582G>T",
        "LRG_319:g.38582G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000586"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2060,
          "referenceAllele": "G",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.3:c.924G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490268.2:p.Trp308Cys",
        "hgvsWellDefined": "ENSP00000490268.2:p.Trp308Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "G",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585748.3:c.552G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477641.2:p.Trp184Cys",
        "hgvsWellDefined": "ENSP00000477641.2:p.Trp184Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 795,
          "referenceAllele": "G",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.2:c.750G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.2:p.Trp250Cys",
        "hgvsWellDefined": "ENSP00000467912.2:p.Trp250Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2060,
          "referenceAllele": "G",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.12:c.924G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Trp308Cys",
        "hgvsWellDefined": "ENSP00000324856.6:p.Trp308Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.924G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.924G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Trp308Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Trp308Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1652,
          "referenceAllele": "G",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000652231.1:c.924G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498804.1:p.Trp308Cys",
        "hgvsWellDefined": "ENSP00000498804.1:p.Trp308Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1374,
          "referenceAllele": "G",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.11:c.924G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Trp308Cys",
        "hgvsWellDefined": "ENSP00000324856.6:p.Trp308Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1884,
          "referenceAllele": "G",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586243.5:c.924G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467240.2:p.Trp308Cys",
        "hgvsWellDefined": "ENSP00000467240.2:p.Trp308Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1622,
          "referenceAllele": "G",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000589152.5:n.1622G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000591133.2:n.895G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111058",
      "coordinates": [
        {
          "allele": "T",
          "end": 2039,
          "referenceAllele": "G",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.4:c.924G>T",
        "LRG_319t1:c.924G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Trp308Cys",
        "hgvsWellDefined": "NP_000446.1:p.Trp308Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1549,
          "referenceAllele": "G",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.1:c.924G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Trp308Cys",
        "hgvsWellDefined": "XP_005259674.1:p.Trp308Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1549,
          "referenceAllele": "G",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259618.3:c.924G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259675.1:p.Trp308Cys",
        "hgvsWellDefined": "XP_005259675.1:p.Trp308Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1680,
          "referenceAllele": "G",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.1:c.702G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Trp234Cys",
        "hgvsWellDefined": "XP_011526511.1:p.Trp234Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "G",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_936204.1:n.1700G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1549,
          "referenceAllele": "G",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.3:c.924G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Trp308Cys",
        "hgvsWellDefined": "XP_005259674.1:p.Trp308Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1680,
          "referenceAllele": "G",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.2:c.702G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Trp234Cys",
        "hgvsWellDefined": "XP_011526511.1:p.Trp234Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1730,
          "referenceAllele": "G",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753738.2:n.1730G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1730,
          "referenceAllele": "G",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753739.1:n.1730G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "G",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753740.2:n.1700G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111058",
      "coordinates": [
        {
          "allele": "T",
          "end": 2060,
          "referenceAllele": "G",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.5:c.924G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Trp308Cys",
        "hgvsWellDefined": "NP_000446.1:p.Trp308Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.924G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.924G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Trp308Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Trp308Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}