{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA348288440",
  "communityStandardTitle": [
    "NM_000576.3(IL1B):c.315C>A (p.Phe105Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4613768[alleleid]",
        "alleleId": 4613768,
        "preferredName": "NM_000576.3(IL1B):c.315C>A (p.Phe105Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4502978",
        "RCV": [
          "RCV006218586"
        ],
        "variationId": 4502978
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.113590390G>T?assembly=hg19",
        "id": "chr2:g.113590390G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.112832813G>T?assembly=hg38",
        "id": "chr2:g.112832813G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1143634",
        "rs": 1143634
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 112832813,
          "referenceAllele": "G",
          "start": 112832812
        }
      ],
      "hgvs": [
        "NC_000002.12:g.112832813G>T",
        "CM000664.2:g.112832813G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 113590390,
          "referenceAllele": "G",
          "start": 113590389
        }
      ],
      "hgvs": [
        "NC_000002.11:g.113590390G>T",
        "CM000664.1:g.113590390G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 113306861,
          "referenceAllele": "G",
          "start": 113306860
        }
      ],
      "hgvs": [
        "NC_000002.10:g.113306861G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8967,
          "referenceAllele": "C",
          "start": 8966
        }
      ],
      "hgvs": [
        "NG_008851.1:g.8967C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001247"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "referenceAllele": "C",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "ENST00000263341.7:c.315C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263341.2:p.Phe105Leu",
        "hgvsWellDefined": "ENSP00000263341.2:p.Phe105Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742499",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263341.7:c.315C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000576.3:c.315C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263341.2:p.Phe105Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000567.1:p.Phe105Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "ENST00000263341.6:c.315C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263341.2:p.Phe105Leu",
        "hgvsWellDefined": "ENSP00000263341.2:p.Phe105Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "ENST00000416750.1:c.315C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400854.1:p.Phe105Leu",
        "hgvsWellDefined": "ENSP00000400854.1:p.Phe105Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "ENST00000418817.5:c.315C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407219.1:p.Phe105Leu",
        "hgvsWellDefined": "ENSP00000407219.1:p.Phe105Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "ENST00000432018.5:c.315C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409680.1:p.Phe105Leu",
        "hgvsWellDefined": "ENSP00000409680.1:p.Phe105Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "C",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "ENST00000487639.1:n.216C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "ENST00000491056.5:n.1122C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066500528",
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "referenceAllele": "C",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "NM_000576.2:c.315C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000567.1:p.Phe105Leu",
        "hgvsWellDefined": "NP_000567.1:p.Phe105Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "XM_006712496.1:c.81C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712559.1:p.Phe27Leu",
        "hgvsWellDefined": "XP_006712559.1:p.Phe27Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "XM_017003988.2:c.222C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859477.1:p.Phe74Leu",
        "hgvsWellDefined": "XP_016859477.1:p.Phe74Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066500528",
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "referenceAllele": "C",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005992",
      "geneNCBI_id": 3553,
      "geneSymbol": "IL1B",
      "hgvs": [
        "NM_000576.3:c.315C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000567.1:p.Phe105Leu",
        "hgvsWellDefined": "NP_000567.1:p.Phe105Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674897",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263341.7:c.315C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000576.3:c.315C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263341.2:p.Phe105Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000567.1:p.Phe105Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}