{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16616036",
  "communityStandardTitle": [
    "NM_000455.5(STK11):c.1195C>A (p.Gln399Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=403225[alleleid]",
        "alleleId": 403225,
        "preferredName": "NM_000455.5(STK11):c.1195C>A (p.Gln399Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/403791",
        "RCV": [
          "RCV000458053",
          "RCV000579669",
          "RCV000765434"
        ],
        "variationId": 403791
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1226539C>A?assembly=hg19",
        "id": "chr19:g.1226539C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1226540C>A?assembly=hg38",
        "id": "chr19:g.1226540C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499968",
        "rs": 1060499968
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1226539-C-A?dataset=gnomad_r2_1",
        "id": "19-1226539-C-A",
        "variant": "19:1226539 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1226540-C-A?dataset=gnomad_r4",
        "id": "19-1226540-C-A",
        "variant": "19:1226540 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 1226540,
          "referenceAllele": "C",
          "start": 1226539
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1226540C>A",
        "CM000681.2:g.1226540C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 1226539,
          "referenceAllele": "C",
          "start": 1226538
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1226539C>A",
        "CM000681.1:g.1226539C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 1177539,
          "referenceAllele": "C",
          "start": 1177538
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1177539C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42134,
          "referenceAllele": "C",
          "start": 42133
        }
      ],
      "hgvs": [
        "NG_007460.2:g.42134C>A",
        "LRG_319:g.42134C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000586"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5147,
          "referenceAllele": "C",
          "start": 5146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.3:c.*2796C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490268.2:n.*2796C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1504,
          "referenceAllele": "C",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585748.3:c.823C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477641.2:p.Gln275Lys",
        "hgvsWellDefined": "ENSP00000477641.2:p.Gln275Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.2:c.1021C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.2:p.Gln341Lys",
        "hgvsWellDefined": "ENSP00000467912.2:p.Gln341Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2331,
          "referenceAllele": "C",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.12:c.1195C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Gln399Lys",
        "hgvsWellDefined": "ENSP00000324856.6:p.Gln399Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.1195C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.1195C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Gln399Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Gln399Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1645,
          "referenceAllele": "C",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.11:c.1195C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Gln399Lys",
        "hgvsWellDefined": "ENSP00000324856.6:p.Gln399Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2928,
          "referenceAllele": "C",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.2:n.2928C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2155,
          "referenceAllele": "C",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586243.5:c.1195C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467240.2:p.Gln399Lys",
        "hgvsWellDefined": "ENSP00000467240.2:p.Gln399Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000589152.5:n.1893C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460002",
      "coordinates": [
        {
          "allele": "A",
          "end": 2310,
          "referenceAllele": "C",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.4:c.1195C>A",
        "LRG_319t1:c.1195C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Gln399Lys",
        "hgvsWellDefined": "NP_000446.1:p.Gln399Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1815,
          "referenceAllele": "C",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.1:c.1190C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Ala397Glu",
        "hgvsWellDefined": "XP_005259674.1:p.Ala397Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.1:c.968C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Ala323Glu",
        "hgvsWellDefined": "XP_011526511.1:p.Ala323Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1815,
          "referenceAllele": "C",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.3:c.1190C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Ala397Glu",
        "hgvsWellDefined": "XP_005259674.1:p.Ala397Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.2:c.968C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Ala323Glu",
        "hgvsWellDefined": "XP_011526511.1:p.Ala323Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753738.2:n.2001C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1971,
          "referenceAllele": "C",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753740.2:n.1971C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460002",
      "coordinates": [
        {
          "allele": "A",
          "end": 2331,
          "referenceAllele": "C",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.5:c.1195C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Gln399Lys",
        "hgvsWellDefined": "NP_000446.1:p.Gln399Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.1195C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.1195C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Gln399Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Gln399Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}