{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1170617",
  "communityStandardTitle": [
    "NM_001080471.3(PEAR1):c.2544C>A (p.Asn848Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3996976"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1234048[alleleid]",
        "alleleId": 1234048,
        "preferredName": "NM_001080471.3(PEAR1):c.2544C>A (p.Asn848Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1243276",
        "RCV": [
          "RCV001644175"
        ],
        "variationId": 1243276
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-156883215-C-A",
        "id": "1-156883215-C-A",
        "variant": "1:156883215 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156883215C>A?assembly=hg19",
        "id": "chr1:g.156883215C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156913423C>A?assembly=hg38",
        "id": "chr1:g.156913423C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/822442",
        "rs": 822442
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156883215-C-A?dataset=gnomad_r2_1",
        "id": "1-156883215-C-A",
        "variant": "1:156883215 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156913423-C-A?dataset=gnomad_r3",
        "id": "1-156913423-C-A",
        "variant": "1:156913423 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156913423-C-A?dataset=gnomad_r4",
        "id": "1-156913423-C-A",
        "variant": "1:156913423 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156913423,
          "referenceAllele": "C",
          "start": 156913422
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156913423C>A",
        "CM000663.2:g.156913423C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156883215,
          "referenceAllele": "C",
          "start": 156883214
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156883215C>A",
        "CM000663.1:g.156883215C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 155149839,
          "referenceAllele": "C",
          "start": 155149838
        }
      ],
      "hgvs": [
        "NC_000001.9:g.155149839C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2673,
          "referenceAllele": "C",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "ENST00000292357.8:c.2544C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292357.7:p.Asn848Lys",
        "hgvsWellDefined": "ENSP00000292357.7:p.Asn848Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292357.8:c.2544C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001080471.3:c.2544C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292357.7:p.Asn848Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001073940.1:p.Asn848Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2660,
          "referenceAllele": "C",
          "start": 2659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "ENST00000292357.7:c.2544C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292357.7:p.Asn848Lys",
        "hgvsWellDefined": "ENSP00000292357.7:p.Asn848Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2769,
          "referenceAllele": "C",
          "start": 2768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "ENST00000338302.7:c.2544C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344465.3:p.Asn848Lys",
        "hgvsWellDefined": "ENSP00000344465.3:p.Asn848Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "ENST00000469390.5:n.2272C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312079"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499237405",
      "coordinates": [
        {
          "allele": "A",
          "end": 2660,
          "referenceAllele": "C",
          "start": 2659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "NM_001080471.1:c.2544C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073940.1:p.Asn848Lys",
        "hgvsWellDefined": "NP_001073940.1:p.Asn848Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2858,
          "referenceAllele": "C",
          "start": 2857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_005245141.2:c.2544C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245198.1:p.Asn848Lys",
        "hgvsWellDefined": "XP_005245198.1:p.Asn848Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2885,
          "referenceAllele": "C",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_006711302.2:c.2571C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711365.1:p.Asn857Lys",
        "hgvsWellDefined": "XP_006711365.1:p.Asn857Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2881,
          "referenceAllele": "C",
          "start": 2880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509508.1:c.2571C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507810.1:p.Asn857Lys",
        "hgvsWellDefined": "XP_011507810.1:p.Asn857Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2824,
          "referenceAllele": "C",
          "start": 2823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509509.1:c.2571C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507811.1:p.Asn857Lys",
        "hgvsWellDefined": "XP_011507811.1:p.Asn857Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076776"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2797,
          "referenceAllele": "C",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509510.1:c.2544C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507812.1:p.Asn848Lys",
        "hgvsWellDefined": "XP_011507812.1:p.Asn848Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2753,
          "referenceAllele": "C",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509511.1:c.2439C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507813.1:p.Asn813Lys",
        "hgvsWellDefined": "XP_011507813.1:p.Asn813Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2676,
          "referenceAllele": "C",
          "start": 2675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509512.1:c.2037C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507814.1:p.Asn679Lys",
        "hgvsWellDefined": "XP_011507814.1:p.Asn679Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827733822",
      "coordinates": [
        {
          "allele": "A",
          "end": 2839,
          "referenceAllele": "C",
          "start": 2838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "NM_001353682.1:c.2352C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340611.1:p.Asn784Lys",
        "hgvsWellDefined": "NP_001340611.1:p.Asn784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827733879",
      "coordinates": [
        {
          "allele": "A",
          "end": 2998,
          "referenceAllele": "C",
          "start": 2997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "NM_001353683.1:c.2352C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340612.1:p.Asn784Lys",
        "hgvsWellDefined": "NP_001340612.1:p.Asn784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2853,
          "referenceAllele": "C",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_005245141.3:c.2544C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245198.1:p.Asn848Lys",
        "hgvsWellDefined": "XP_005245198.1:p.Asn848Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2792,
          "referenceAllele": "C",
          "start": 2791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509510.2:c.2544C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507812.1:p.Asn848Lys",
        "hgvsWellDefined": "XP_011507812.1:p.Asn848Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2748,
          "referenceAllele": "C",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509511.2:c.2439C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507813.1:p.Asn813Lys",
        "hgvsWellDefined": "XP_011507813.1:p.Asn813Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2672,
          "referenceAllele": "C",
          "start": 2671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_011509512.2:c.2037C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507814.1:p.Asn679Lys",
        "hgvsWellDefined": "XP_011507814.1:p.Asn679Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3916,
          "referenceAllele": "C",
          "start": 3915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001234.2:c.2808C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856723.1:p.Asn936Lys",
        "hgvsWellDefined": "XP_016856723.1:p.Asn936Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3785,
          "referenceAllele": "C",
          "start": 3784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001235.2:c.2676C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856724.1:p.Asn892Lys",
        "hgvsWellDefined": "XP_016856724.1:p.Asn892Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2755,
          "referenceAllele": "C",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001236.1:c.2544C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856725.1:p.Asn848Lys",
        "hgvsWellDefined": "XP_016856725.1:p.Asn848Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2938,
          "referenceAllele": "C",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001238.1:c.2352C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856727.1:p.Asn784Lys",
        "hgvsWellDefined": "XP_016856727.1:p.Asn784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2749,
          "referenceAllele": "C",
          "start": 2748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001239.1:c.2352C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856728.1:p.Asn784Lys",
        "hgvsWellDefined": "XP_016856728.1:p.Asn784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2317,
          "referenceAllele": "C",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001240.1:c.2160C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856729.1:p.Asn720Lys",
        "hgvsWellDefined": "XP_016856729.1:p.Asn720Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2465,
          "referenceAllele": "C",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001241.1:c.2160C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856730.1:p.Asn720Lys",
        "hgvsWellDefined": "XP_016856730.1:p.Asn720Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "XM_017001242.1:c.2160C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856731.1:p.Asn720Lys",
        "hgvsWellDefined": "XP_016856731.1:p.Asn720Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557449"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827733822",
      "coordinates": [
        {
          "allele": "A",
          "end": 2819,
          "referenceAllele": "C",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "NM_001353682.2:c.2352C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340611.1:p.Asn784Lys",
        "hgvsWellDefined": "NP_001340611.1:p.Asn784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689863"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827733879",
      "coordinates": [
        {
          "allele": "A",
          "end": 2978,
          "referenceAllele": "C",
          "start": 2977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "NM_001353683.2:c.2352C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340612.1:p.Asn784Lys",
        "hgvsWellDefined": "NP_001340612.1:p.Asn784Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499237405",
      "coordinates": [
        {
          "allele": "A",
          "end": 2673,
          "referenceAllele": "C",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033631",
      "geneNCBI_id": 375033,
      "geneSymbol": "PEAR1",
      "hgvs": [
        "NM_001080471.3:c.2544C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073940.1:p.Asn848Lys",
        "hgvsWellDefined": "NP_001073940.1:p.Asn848Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292357.8:c.2544C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001080471.3:c.2544C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292357.7:p.Asn848Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001073940.1:p.Asn848Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}