{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1565580926",
  "communityStandardTitle": [
    "NM_001040458.3(ERAP1):c.1756A= (p.Thr586=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1346419587",
        "rs": 1346419587
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 96786473,
          "referenceAllele": "T",
          "start": 96786472
        }
      ],
      "hgvs": [
        "NC_000005.10:g.96786473T=",
        "CM000667.2:g.96786473T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 96122177,
          "referenceAllele": "T",
          "start": 96122176
        }
      ],
      "hgvs": [
        "NC_000005.9:g.96122177T=",
        "CM000667.1:g.96122177T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 96147933,
          "referenceAllele": "T",
          "start": 96147932
        }
      ],
      "hgvs": [
        "NC_000005.8:g.96147933T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32672,
          "referenceAllele": "A",
          "start": 32671
        }
      ],
      "hgvs": [
        "NG_027839.1:g.32672A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 154511,
          "referenceAllele": "A",
          "start": 154510
        }
      ],
      "hgvs": [
        "NG_027839.2:g.154511A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616277"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1859,
          "referenceAllele": "A",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000443439.7:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406304.2:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755948",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000443439.7:c.1756A="
          },
          "RefSeq": {
            "hgvs": "NM_001040458.3:c.1756A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406304.2:p.Thr586="
          },
          "RefSeq": {
            "hgvs": "NP_001035548.1:p.Thr586="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2014,
          "referenceAllele": "A",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000296754.7:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296754.3:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "A",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000443439.6:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406304.2:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 419,
          "referenceAllele": "A",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000507859.1:n.419A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 180,
          "referenceAllele": "A",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000514604.5:n.180A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2103,
          "referenceAllele": "A",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001040458.1:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035548.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1861,
          "referenceAllele": "A",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001198541.1:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001185470.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016768"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071551122",
      "coordinates": [
        {
          "allele": "A",
          "end": 2103,
          "referenceAllele": "A",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_016442.3:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "NP_057526.3:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2049,
          "referenceAllele": "A",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_005272015.3:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272072.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2014,
          "referenceAllele": "A",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_005272016.3:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272073.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4264,
          "referenceAllele": "A",
          "start": 4263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543480.1:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541782.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4261,
          "referenceAllele": "A",
          "start": 4260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543481.1:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541783.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4268,
          "referenceAllele": "A",
          "start": 4267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543482.1:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541784.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "A",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543483.1:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541785.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4260,
          "referenceAllele": "A",
          "start": 4259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543484.1:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541786.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4080,
          "referenceAllele": "A",
          "start": 4079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543485.1:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541787.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4264,
          "referenceAllele": "A",
          "start": 4263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543486.1:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541788.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4264,
          "referenceAllele": "A",
          "start": 4263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543487.1:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541789.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2103,
          "referenceAllele": "A",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001040458.2:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035548.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1861,
          "referenceAllele": "A",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001198541.2:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001185470.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2099,
          "referenceAllele": "A",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001349244.1:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001336173.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071551122",
      "coordinates": [
        {
          "allele": "A",
          "end": 2103,
          "referenceAllele": "A",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_016442.4:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "NP_057526.3:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2049,
          "referenceAllele": "A",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_005272015.5:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272072.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2014,
          "referenceAllele": "A",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_005272016.4:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005272073.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4323,
          "referenceAllele": "A",
          "start": 4322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543480.2:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541782.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4320,
          "referenceAllele": "A",
          "start": 4319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543481.2:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541783.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4319,
          "referenceAllele": "A",
          "start": 4318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543484.2:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541786.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4139,
          "referenceAllele": "A",
          "start": 4138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543485.2:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541787.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4323,
          "referenceAllele": "A",
          "start": 4322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543486.3:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541788.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4165,
          "referenceAllele": "A",
          "start": 4164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_017009581.1:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865070.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1965,
          "referenceAllele": "A",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_017009583.2:c.661A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865072.1:p.Thr221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4162,
          "referenceAllele": "A",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_024446113.1:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024301881.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579789"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1894,
          "referenceAllele": "A",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XR_001742119.2:n.1894A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1859,
          "referenceAllele": "A",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001040458.3:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035548.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663169",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000443439.7:c.1756A="
          },
          "RefSeq": {
            "hgvs": "NM_001040458.3:c.1756A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406304.2:p.Thr586="
          },
          "RefSeq": {
            "hgvs": "NP_001035548.1:p.Thr586="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1861,
          "referenceAllele": "A",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001198541.3:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001185470.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1855,
          "referenceAllele": "A",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001349244.2:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001336173.1:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071551122",
      "coordinates": [
        {
          "allele": "A",
          "end": 1859,
          "referenceAllele": "A",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_016442.5:c.1756A="
      ],
      "proteinEffect": {
        "hgvs": "NP_057526.3:p.Thr586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728171"
    }
  ],
  "type": "nucleotide"
}