{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140610605",
  "communityStandardTitle": [
    "NM_001080471.3(PEAR1):c.1952-80C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41273215",
        "rs": 41273215
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156912167,
          "referenceAllele": "C",
          "start": 156912166
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156912167C=",
        "CM000663.2:g.156912167C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156881959,
          "referenceAllele": "C",
          "start": 156881958
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156881959C=",
        "CM000663.1:g.156881959C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 155148583,
          "referenceAllele": "C",
          "start": 155148582
        }
      ],
      "hgvs": [
        "NC_000001.9:g.155148583C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2080,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2080,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "ENST00000292357.8:c.1952-80C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292357.7:n.1952-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292357.8:c.1952-80C="
          },
          "RefSeq": {
            "hgvs": "NM_001080471.3:c.1952-80C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292357.7:n.1952-80C="
          },
          "RefSeq": {
            "hgvs": "NP_001073940.1:n.1952-80C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2067,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2067,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "ENST00000292357.7:c.1952-80C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292357.7:n.1952-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2176,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2176,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "ENST00000338302.7:c.1952-80C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344465.3:n.1952-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 1679,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "ENST00000469390.5:n.1680-80C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312079"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2067,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2067,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "NM_001080471.1:c.1952-80C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073940.1:n.1952-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2265,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2265,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_005245141.2:c.1952-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245198.1:n.1952-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2292,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2292,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_006711302.2:c.1979-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006711365.1:n.1979-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2288,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2288,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509508.1:c.1979-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507810.1:n.1979-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2231,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2231,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509509.1:c.1979-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507811.1:n.1979-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2204,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2204,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509510.1:c.1952-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507812.1:n.1952-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2160,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2160,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509511.1:c.1847-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507813.1:n.1847-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2083,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2083,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509512.1:c.1445-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507814.1:n.1445-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2246,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2246,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "NM_001353682.1:c.1760-80C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001340611.1:n.1760-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2405,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2405,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "NM_001353683.1:c.1760-80C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001340612.1:n.1760-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2260,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2260,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_005245141.3:c.1952-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005245198.1:n.1952-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532374"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2199,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2199,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509510.2:c.1952-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507812.1:n.1952-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2155,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2155,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509511.2:c.1847-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507813.1:n.1847-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2079,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2079,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509512.2:c.1445-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507814.1:n.1445-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3323,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 3323,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001234.2:c.2216-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856723.1:n.2216-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3192,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 3192,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001235.2:c.2084-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856724.1:n.2084-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2162,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2162,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001236.1:c.1952-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856725.1:n.1952-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2345,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2345,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001238.1:c.1760-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856727.1:n.1760-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2156,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2156,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001239.1:c.1760-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856728.1:n.1760-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1724,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 1724,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001240.1:c.1568-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856729.1:n.1568-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 1872,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001241.1:c.1568-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856730.1:n.1568-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1776,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 1776,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001242.1:c.1568-80C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856731.1:n.1568-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2226,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2226,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "NM_001353682.2:c.1760-80C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001340611.1:n.1760-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2385,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2385,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "NM_001353683.2:c.1760-80C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001340612.1:n.1760-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2080,
          "endIntronDirection": "-",
          "endIntronOffset": 79,
          "referenceAllele": "C",
          "start": 2080,
          "startIntronDirection": "-",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "NM_001080471.3:c.1952-80C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073940.1:n.1952-80C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292357.8:c.1952-80C="
          },
          "RefSeq": {
            "hgvs": "NM_001080471.3:c.1952-80C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292357.7:n.1952-80C="
          },
          "RefSeq": {
            "hgvs": "NP_001073940.1:n.1952-80C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}