{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2889579",
  "communityStandardTitle": [
    "NM_003263.4(TLR1):c.239G>C (p.Arg80Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3760609"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3203090[alleleid]",
        "alleleId": 3203090,
        "preferredName": "NM_003263.4(TLR1):c.239G>C (p.Arg80Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3037177",
        "RCV": [
          "RCV003914137"
        ],
        "variationId": 3037177
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-38800214-C-G",
        "id": "4-38800214-C-G",
        "variant": "4:38800214 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.38800214C>G?assembly=hg19",
        "id": "chr4:g.38800214C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.38798593C>G?assembly=hg38",
        "id": "chr4:g.38798593C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5743611",
        "rs": 5743611
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-38800214-C-G?dataset=gnomad_r2_1",
        "id": "4-38800214-C-G",
        "variant": "4:38800214 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-38798593-C-G?dataset=gnomad_r3",
        "id": "4-38798593-C-G",
        "variant": "4:38798593 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-38798593-C-G?dataset=gnomad_r4",
        "id": "4-38798593-C-G",
        "variant": "4:38798593 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 38798593,
          "referenceAllele": "C",
          "start": 38798592
        }
      ],
      "hgvs": [
        "NC_000004.12:g.38798593C>G",
        "CM000666.2:g.38798593C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 38800214,
          "referenceAllele": "C",
          "start": 38800213
        }
      ],
      "hgvs": [
        "NC_000004.11:g.38800214C>G",
        "CM000666.1:g.38800214C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 38476609,
          "referenceAllele": "C",
          "start": 38476608
        }
      ],
      "hgvs": [
        "NC_000004.10:g.38476609C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11199,
          "referenceAllele": "G",
          "start": 11198
        }
      ],
      "hgvs": [
        "NG_016228.1:g.11199G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003032"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "ENST00000308979.7:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354932.2:p.Arg80Thr",
        "hgvsWellDefined": "ENSP00000354932.2:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745504",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308979.7:c.239G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003263.4:c.239G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354932.2:p.Arg80Thr"
          },
          "RefSeq": {
            "hgvs": "NP_003254.2:p.Arg80Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "ENST00000308979.6:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354932.2:p.Arg80Thr",
        "hgvsWellDefined": "ENSP00000354932.2:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "ENST00000502213.6:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421259.1:p.Arg80Thr",
        "hgvsWellDefined": "ENSP00000421259.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 235,
          "endIntronDirection": "+",
          "endIntronOffset": 2264,
          "referenceAllele": "G",
          "start": 235,
          "startIntronDirection": "+",
          "startIntronOffset": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "ENST00000505744.5:n.235+2264G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "ENST00000505940.1:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421856.1:p.Arg80Thr",
        "hgvsWellDefined": "ENSP00000421856.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337601"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 546,
          "referenceAllele": "G",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "ENST00000515861.5:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423017.1:p.Arg80Thr",
        "hgvsWellDefined": "ENSP00000423017.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741899400",
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "NM_003263.3:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003254.2:p.Arg80Thr",
        "hgvsWellDefined": "NP_003254.2:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1198,
          "referenceAllele": "G",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_005262662.3:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262719.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_005262719.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 525,
          "referenceAllele": "G",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_006714028.2:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714091.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_006714091.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1121,
          "referenceAllele": "G",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_011513742.1:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512044.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_011512044.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "referenceAllele": "G",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_011513743.1:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512045.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_011512045.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080975"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_011513744.1:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512046.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_011512046.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_011513745.1:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512047.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_011512047.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XR_925162.1:n.513G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XR_925163.1:n.513G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XR_925165.1:n.513G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_005262662.5:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262719.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_005262719.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1122,
          "referenceAllele": "G",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_011513742.3:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512044.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_011512044.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1030,
          "referenceAllele": "G",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_011513745.3:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512047.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_011512047.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_017008571.2:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864060.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_016864060.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1107,
          "referenceAllele": "G",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_017008572.2:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864061.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_016864061.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563054"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "G",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_024454196.1:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309964.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_024309964.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587566"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "referenceAllele": "G",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_024454197.1:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309965.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_024309965.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_024454198.1:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309966.1:p.Arg80Thr",
        "hgvsWellDefined": "XP_024309966.1:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1277,
          "endIntronDirection": "+",
          "endIntronOffset": 2264,
          "referenceAllele": "G",
          "start": 1277,
          "startIntronDirection": "+",
          "startIntronOffset": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XM_024454199.1:c.205+2264G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309967.1:n.205+2264G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XR_925163.2:n.513G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "XR_925165.2:n.513G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741899400",
      "coordinates": [
        {
          "allele": "C",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011847",
      "geneNCBI_id": 7096,
      "geneSymbol": "TLR1",
      "hgvs": [
        "NM_003263.4:c.239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003254.2:p.Arg80Thr",
        "hgvsWellDefined": "NP_003254.2:p.Arg80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665957",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308979.7:c.239G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003263.4:c.239G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354932.2:p.Arg80Thr"
          },
          "RefSeq": {
            "hgvs": "NP_003254.2:p.Arg80Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}