{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16616019",
  "communityStandardTitle": [
    "NM_000455.5(STK11):c.1251C>T (p.Ala417=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=403190[alleleid]",
        "alleleId": 403190,
        "preferredName": "NM_000455.5(STK11):c.1251C>T (p.Ala417=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/412548",
        "RCV": [
          "RCV000566439",
          "RCV001079780",
          "RCV003942500"
        ],
        "variationId": 412548
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1226595C>T?assembly=hg19",
        "id": "chr19:g.1226595C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.1226596C>T?assembly=hg38",
        "id": "chr19:g.1226596C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503786",
        "rs": 1060503786
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1226595-C-T?dataset=gnomad_r2_1",
        "id": "19-1226595-C-T",
        "variant": "19:1226595 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1226596-C-T?dataset=gnomad_r3",
        "id": "19-1226596-C-T",
        "variant": "19:1226596 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-1226596-C-T?dataset=gnomad_r4",
        "id": "19-1226596-C-T",
        "variant": "19:1226596 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1226596,
          "referenceAllele": "C",
          "start": 1226595
        }
      ],
      "hgvs": [
        "NC_000019.10:g.1226596C>T",
        "CM000681.2:g.1226596C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1226595,
          "referenceAllele": "C",
          "start": 1226594
        }
      ],
      "hgvs": [
        "NC_000019.9:g.1226595C>T",
        "CM000681.1:g.1226595C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 1177595,
          "referenceAllele": "C",
          "start": 1177594
        }
      ],
      "hgvs": [
        "NC_000019.8:g.1177595C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42190,
          "referenceAllele": "C",
          "start": 42189
        }
      ],
      "hgvs": [
        "NG_007460.2:g.42190C>T",
        "LRG_319:g.42190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000586"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5203,
          "referenceAllele": "C",
          "start": 5202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.3:c.*2852C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490268.2:n.*2852C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1560,
          "referenceAllele": "C",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585748.3:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477641.2:p.Ala293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585851.2:c.1077C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467912.2:p.Ala359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2387,
          "referenceAllele": "C",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.12:c.1251C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Ala417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.1251C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.1251C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Ala417="
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Ala417="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1701,
          "referenceAllele": "C",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000326873.11:c.1251C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324856.6:p.Ala417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2984,
          "referenceAllele": "C",
          "start": 2983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000585465.2:n.2984C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2210,
          "referenceAllele": "C",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000586243.5:c.1250C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467240.2:p.Pro417Leu",
        "hgvsWellDefined": "ENSP00000467240.2:p.Pro417Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1949,
          "referenceAllele": "C",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "ENST00000589152.5:n.1949C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144631",
      "coordinates": [
        {
          "allele": "T",
          "end": 2366,
          "referenceAllele": "C",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.4:c.1251C>T",
        "LRG_319t1:c.1251C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Ala417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.1:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Leu416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2002,
          "referenceAllele": "C",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.1:c.1024C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Leu342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_005259617.3:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259674.1:p.Leu416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2002,
          "referenceAllele": "C",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XM_011528209.2:c.1024C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526511.1:p.Leu342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2057,
          "referenceAllele": "C",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753738.2:n.2057C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2027,
          "referenceAllele": "C",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "XR_001753740.2:n.2027C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825144631",
      "coordinates": [
        {
          "allele": "T",
          "end": 2387,
          "referenceAllele": "C",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011389",
      "geneNCBI_id": 6794,
      "geneSymbol": "STK11",
      "hgvs": [
        "NM_000455.5:c.1251C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000446.1:p.Ala417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326873.12:c.1251C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000455.5:c.1251C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000324856.6:p.Ala417="
          },
          "RefSeq": {
            "hgvs": "NP_000446.1:p.Ala417="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}