{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1979886647",
  "communityStandardTitle": [
    "NM_001040716.2(PC):c.1351C= (p.Arg451=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113994143",
        "rs": 113994143
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 66863791,
          "referenceAllele": "G",
          "start": 66863790
        }
      ],
      "hgvs": [
        "NC_000011.10:g.66863791G=",
        "CM000673.2:g.66863791G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 66631262,
          "referenceAllele": "G",
          "start": 66631261
        }
      ],
      "hgvs": [
        "NC_000011.9:g.66631262G=",
        "CM000673.1:g.66631262G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 66387838,
          "referenceAllele": "G",
          "start": 66387837
        }
      ],
      "hgvs": [
        "NC_000011.8:g.66387838G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99586,
          "referenceAllele": "C",
          "start": 99585
        }
      ],
      "hgvs": [
        "NG_008319.1:g.99586C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001026"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1452,
          "referenceAllele": "C",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000393958.7:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377530.2:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000393960.7:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377532.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393960.7:c.1351C="
          },
          "RefSeq": {
            "hgvs": "NM_001040716.2:c.1351C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377532.1:p.Arg451="
          },
          "RefSeq": {
            "hgvs": "NP_001035806.1:p.Arg451="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000524491.6:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434192.2:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758854"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 289,
          "endIntronDirection": "-",
          "endIntronOffset": 13725,
          "referenceAllele": "C",
          "start": 289,
          "startIntronDirection": "-",
          "startIntronOffset": 13726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000525476.2:n.290-13726C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1452,
          "referenceAllele": "C",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000528224.2:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498317.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1709,
          "referenceAllele": "C",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000528403.6:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498816.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1580,
          "referenceAllele": "C",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000529047.6:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435905.2:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2201,
          "referenceAllele": "C",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000651036.1:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498406.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1442,
          "referenceAllele": "C",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000651469.1:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498712.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2602,
          "referenceAllele": "C",
          "start": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000651854.1:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498994.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1815,
          "referenceAllele": "C",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000652125.1:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498302.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1432,
          "referenceAllele": "C",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000393955.6:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377527.2:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000393958.6:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377530.2:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000393960.5:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377532.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000524491.5:c.1231C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434192.1:p.Arg411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "ENST00000628663.1:c.1231C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486373.1:p.Arg411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825219675",
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "NM_000920.3:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000911.2:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006945"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825369543",
      "coordinates": [
        {
          "allele": "C",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "NM_001040716.1:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035806.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829983506",
      "coordinates": [
        {
          "allele": "C",
          "end": 1400,
          "referenceAllele": "C",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "NM_022172.2:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "NP_071504.2:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1444,
          "referenceAllele": "C",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_005274031.3:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274088.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_005274032.3:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274089.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1504,
          "referenceAllele": "C",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_006718577.2:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718640.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "C",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_006718578.2:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718641.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_011545085.1:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543387.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_011545086.1:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543388.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_005274031.4:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274088.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537546"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1374,
          "referenceAllele": "C",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_005274032.4:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274089.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537547"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_006718578.3:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718641.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1761,
          "referenceAllele": "C",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_011545086.2:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543388.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1932,
          "referenceAllele": "C",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_017017868.1:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873357.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_017017869.1:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873358.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_017017870.1:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873359.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_017017871.1:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873360.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569956"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1998,
          "referenceAllele": "C",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "XM_017017872.2:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873361.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825219675",
      "coordinates": [
        {
          "allele": "C",
          "end": 1452,
          "referenceAllele": "C",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "NM_000920.4:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000911.2:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825369543",
      "coordinates": [
        {
          "allele": "C",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "NM_001040716.2:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035806.1:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675997",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393960.7:c.1351C="
          },
          "RefSeq": {
            "hgvs": "NM_001040716.2:c.1351C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377532.1:p.Arg451="
          },
          "RefSeq": {
            "hgvs": "NP_001035806.1:p.Arg451="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829983506",
      "coordinates": [
        {
          "allele": "C",
          "end": 1484,
          "referenceAllele": "C",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008636",
      "geneNCBI_id": 5091,
      "geneSymbol": "PC",
      "hgvs": [
        "NM_022172.3:c.1351C="
      ],
      "proteinEffect": {
        "hgvs": "NP_071504.2:p.Arg451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698524"
    }
  ],
  "type": "nucleotide"
}