{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043974",
  "communityStandardTitle": [
    "NM_014994.3(MAPKBP1):c.1613G>A (p.Arg538Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361823[alleleid]",
        "alleleId": 361823,
        "preferredName": "NM_014994.3(MAPKBP1):c.1613G>A (p.Arg538Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374918",
        "RCV": [
          "RCV000415534"
        ],
        "variationId": 374918
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42109135G>A?assembly=hg19",
        "id": "chr15:g.42109135G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.41816937G>A?assembly=hg38",
        "id": "chr15:g.41816937G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519305",
        "rs": 1057519305
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-41816937-G-A?dataset=gnomad_r4",
        "id": "15-41816937-G-A",
        "variant": "15:41816937 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 41816937,
          "referenceAllele": "G",
          "start": 41816936
        }
      ],
      "hgvs": [
        "NC_000015.10:g.41816937G>A",
        "CM000677.2:g.41816937G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 42109135,
          "referenceAllele": "G",
          "start": 42109134
        }
      ],
      "hgvs": [
        "NC_000015.9:g.42109135G>A",
        "CM000677.1:g.42109135G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 39896427,
          "referenceAllele": "G",
          "start": 39896426
        }
      ],
      "hgvs": [
        "NC_000015.8:g.39896427G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47504,
          "referenceAllele": "G",
          "start": 47503
        }
      ],
      "hgvs": [
        "NG_054745.1:g.47504G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617505"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1849,
          "referenceAllele": "G",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "ENST00000457542.7:c.1613G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397570.2:p.Arg538Gln",
        "hgvsWellDefined": "ENSP00000397570.2:p.Arg538Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756594",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000457542.7:c.1613G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014994.3:c.1613G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000397570.2:p.Arg538Gln"
          },
          "RefSeq": {
            "hgvs": "NP_055809.2:p.Arg538Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "ENST00000456763.6:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393099.2:p.Arg544Gln",
        "hgvsWellDefined": "ENSP00000393099.2:p.Arg544Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1899,
          "referenceAllele": "G",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "ENST00000457542.6:c.1613G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397570.2:p.Arg538Gln",
        "hgvsWellDefined": "ENSP00000397570.2:p.Arg538Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "ENST00000503526.1:n.400G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2061,
          "referenceAllele": "G",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "ENST00000505061.5:n.2061G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1601,
          "referenceAllele": "G",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "ENST00000505373.5:c.*1164G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421891.1:n.*1164G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1709,
          "referenceAllele": "G",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "ENST00000512970.5:c.*427G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427582.1:n.*427G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1791,
          "referenceAllele": "G",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "ENST00000514566.5:c.1613G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426154.1:p.Arg538Gln",
        "hgvsWellDefined": "ENSP00000426154.1:p.Arg538Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645428822",
      "coordinates": [
        {
          "allele": "A",
          "end": 1917,
          "referenceAllele": "G",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NM_001128608.1:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001122080.1:p.Arg544Gln",
        "hgvsWellDefined": "NP_001122080.1:p.Arg544Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826487662",
      "coordinates": [
        {
          "allele": "A",
          "end": 1899,
          "referenceAllele": "G",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NM_001265611.1:c.1613G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001252540.1:p.Arg538Gln",
        "hgvsWellDefined": "NP_001252540.1:p.Arg538Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829793063",
      "coordinates": [
        {
          "allele": "A",
          "end": 1899,
          "referenceAllele": "G",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NM_014994.2:c.1613G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055809.2:p.Arg538Gln",
        "hgvsWellDefined": "NP_055809.2:p.Arg538Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1709,
          "referenceAllele": "G",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NR_049761.1:n.1709G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1660,
          "referenceAllele": "G",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NR_049762.1:n.1660G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052200"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1716,
          "referenceAllele": "G",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_006720438.1:c.1466G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720501.1:p.Arg489Gln",
        "hgvsWellDefined": "XP_006720501.1:p.Arg489Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1876,
          "referenceAllele": "G",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_011521382.1:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519684.1:p.Arg544Gln",
        "hgvsWellDefined": "XP_011519684.1:p.Arg544Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1734,
          "referenceAllele": "G",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_011521383.1:c.1484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519685.1:p.Arg495Gln",
        "hgvsWellDefined": "XP_011519685.1:p.Arg495Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_011521384.1:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519686.1:p.Arg544Gln",
        "hgvsWellDefined": "XP_011519686.1:p.Arg544Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_011521385.1:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519687.1:p.Arg544Gln",
        "hgvsWellDefined": "XP_011519687.1:p.Arg544Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1714,
          "referenceAllele": "G",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_006720438.2:c.1466G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720501.1:p.Arg489Gln",
        "hgvsWellDefined": "XP_006720501.1:p.Arg489Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1732,
          "referenceAllele": "G",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_011521383.2:c.1484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519685.1:p.Arg495Gln",
        "hgvsWellDefined": "XP_011519685.1:p.Arg495Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1879,
          "referenceAllele": "G",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_011521384.3:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519686.1:p.Arg544Gln",
        "hgvsWellDefined": "XP_011519686.1:p.Arg544Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2010,
          "referenceAllele": "G",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_017022017.1:c.1484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877506.1:p.Arg495Gln",
        "hgvsWellDefined": "XP_016877506.1:p.Arg495Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1879,
          "referenceAllele": "G",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XR_001751156.2:n.1879G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1879,
          "referenceAllele": "G",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XR_001751157.2:n.1879G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1879,
          "referenceAllele": "G",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XR_001751159.2:n.1879G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829793063",
      "coordinates": [
        {
          "allele": "A",
          "end": 1849,
          "referenceAllele": "G",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NM_014994.3:c.1613G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055809.2:p.Arg538Gln",
        "hgvsWellDefined": "NP_055809.2:p.Arg538Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668589",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000457542.7:c.1613G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014994.3:c.1613G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000397570.2:p.Arg538Gln"
          },
          "RefSeq": {
            "hgvs": "NP_055809.2:p.Arg538Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645428822",
      "coordinates": [
        {
          "allele": "A",
          "end": 1867,
          "referenceAllele": "G",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NM_001128608.2:c.1631G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001122080.1:p.Arg544Gln",
        "hgvsWellDefined": "NP_001122080.1:p.Arg544Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676995"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826487662",
      "coordinates": [
        {
          "allele": "A",
          "end": 1849,
          "referenceAllele": "G",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NM_001265611.2:c.1613G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001252540.1:p.Arg538Gln",
        "hgvsWellDefined": "NP_001252540.1:p.Arg538Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NR_049761.2:n.1659G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702579"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1610,
          "referenceAllele": "G",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NR_049762.2:n.1610G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702580"
    }
  ],
  "type": "nucleotide"
}