{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA348296088",
  "communityStandardTitle": [
    "NM_173842.3(IL1RN):c.391G>T (p.Gly131Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1040516[alleleid]",
        "alleleId": 1040516,
        "preferredName": "NM_173842.3(IL1RN):c.391G>T (p.Gly131Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1061260",
        "RCV": [
          "RCV001370804"
        ],
        "variationId": 1061260
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.113890305G>T?assembly=hg19",
        "id": "chr2:g.113890305G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.113132728G>T?assembly=hg38",
        "id": "chr2:g.113132728G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1687217114",
        "rs": 1687217114
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-113132728-G-T?dataset=gnomad_r4",
        "id": "2-113132728-G-T",
        "variant": "2:113132728 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 113132728,
          "referenceAllele": "G",
          "start": 113132727
        }
      ],
      "hgvs": [
        "NC_000002.12:g.113132728G>T",
        "CM000664.2:g.113132728G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 113890305,
          "referenceAllele": "G",
          "start": 113890304
        }
      ],
      "hgvs": [
        "NC_000002.11:g.113890305G>T",
        "CM000664.1:g.113890305G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 113606776,
          "referenceAllele": "G",
          "start": 113606775
        }
      ],
      "hgvs": [
        "NC_000002.10:g.113606776G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19836,
          "referenceAllele": "G",
          "start": 19835
        }
      ],
      "hgvs": [
        "NG_021240.1:g.19836G>T",
        "LRG_188:g.19836G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003503"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000409052.6:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387210.1:p.Gly97Cys",
        "hgvsWellDefined": "ENSP00000387210.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000696879.1:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512947.1:p.Gly97Cys",
        "hgvsWellDefined": "ENSP00000512947.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000696880.1:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512948.1:p.Gly97Cys",
        "hgvsWellDefined": "ENSP00000512948.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000696881.1:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512949.1:p.Gly97Cys",
        "hgvsWellDefined": "ENSP00000512949.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "G",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000696882.1:c.*161G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512950.1:n.*161G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 336,
          "referenceAllele": "G",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000696883.1:n.336G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "referenceAllele": "G",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000409930.4:c.391G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387173.3:p.Gly131Cys",
        "hgvsWellDefined": "ENSP00000387173.3:p.Gly131Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409930.4:c.391G>T"
          },
          "RefSeq": {
            "hgvs": "NM_173842.3:c.391G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387173.3:p.Gly131Cys"
          },
          "RefSeq": {
            "hgvs": "NP_776214.1:p.Gly131Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000259206.9:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259206.5:p.Gly134Cys",
        "hgvsWellDefined": "ENSP00000259206.5:p.Gly134Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "G",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000354115.6:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329072.3:p.Gly113Cys",
        "hgvsWellDefined": "ENSP00000329072.3:p.Gly113Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000361779.7:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354816.3:p.Gly97Cys",
        "hgvsWellDefined": "ENSP00000354816.3:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000409052.5:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387210.1:p.Gly97Cys",
        "hgvsWellDefined": "ENSP00000387210.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "G",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000409930.3:c.391G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387173.3:p.Gly131Cys",
        "hgvsWellDefined": "ENSP00000387173.3:p.Gly131Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825200313",
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "G",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_000577.4:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000568.1:p.Gly113Cys",
        "hgvsWellDefined": "NP_000568.1:p.Gly113Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830369677",
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_173841.2:c.400G>T",
        "LRG_188t1:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_776213.1:p.Gly134Cys",
        "hgvsWellDefined": "NP_776213.1:p.Gly134Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043039"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830369809",
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "G",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_173842.2:c.391G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_776214.1:p.Gly131Cys",
        "hgvsWellDefined": "NP_776214.1:p.Gly131Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043040"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499301044",
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_173843.2:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_776215.1:p.Gly97Cys",
        "hgvsWellDefined": "NP_776215.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1123,
          "referenceAllele": "G",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "XM_005263661.3:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263718.1:p.Gly97Cys",
        "hgvsWellDefined": "XP_005263718.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "XM_006712497.2:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712560.1:p.Gly97Cys",
        "hgvsWellDefined": "XP_006712560.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 985,
          "referenceAllele": "G",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "XM_011511121.1:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509423.1:p.Gly97Cys",
        "hgvsWellDefined": "XP_011509423.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827025010",
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_001318914.1:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305843.1:p.Gly97Cys",
        "hgvsWellDefined": "NP_001305843.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "XM_005263661.4:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263718.1:p.Gly97Cys",
        "hgvsWellDefined": "XP_005263718.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825200313",
      "coordinates": [
        {
          "allele": "T",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_000577.5:c.337G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000568.1:p.Gly113Cys",
        "hgvsWellDefined": "NP_000568.1:p.Gly113Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827025010",
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_001318914.2:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305843.1:p.Gly97Cys",
        "hgvsWellDefined": "NP_001305843.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684665"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830369809",
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "referenceAllele": "G",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_173842.3:c.391G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_776214.1:p.Gly131Cys",
        "hgvsWellDefined": "NP_776214.1:p.Gly131Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700654",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409930.4:c.391G>T"
          },
          "RefSeq": {
            "hgvs": "NM_173842.3:c.391G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387173.3:p.Gly131Cys"
          },
          "RefSeq": {
            "hgvs": "NP_776214.1:p.Gly131Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499301044",
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_173843.3:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_776215.1:p.Gly97Cys",
        "hgvsWellDefined": "NP_776215.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828827579",
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_001379360.1:c.289G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366289.1:p.Gly97Cys",
        "hgvsWellDefined": "NP_001366289.1:p.Gly97Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830369677",
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_173841.3:c.400G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_776213.1:p.Gly134Cys",
        "hgvsWellDefined": "NP_776213.1:p.Gly134Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729601"
    }
  ],
  "type": "nucleotide"
}