{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2122462113",
  "communityStandardTitle": [
    "NM_020366.4(RPGRIP1):c.2480G= (p.Arg827=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28937883",
        "rs": 28937883
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 21325943,
          "referenceAllele": "G",
          "start": 21325942
        }
      ],
      "hgvs": [
        "NC_000014.9:g.21325943G=",
        "CM000676.2:g.21325943G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 21794102,
          "referenceAllele": "G",
          "start": 21794101
        }
      ],
      "hgvs": [
        "NC_000014.8:g.21794102G=",
        "CM000676.1:g.21794102G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 20863942,
          "referenceAllele": "G",
          "start": 20863941
        }
      ],
      "hgvs": [
        "NC_000014.7:g.20863942G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42967,
          "referenceAllele": "G",
          "start": 42966
        }
      ],
      "hgvs": [
        "NG_008933.1:g.42967G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001311"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2595,
          "referenceAllele": "G",
          "start": 2594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000400017.7:c.2480G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382895.2:p.Arg827="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753892",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000400017.7:c.2480G="
          },
          "RefSeq": {
            "hgvs": "NM_020366.4:c.2480G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382895.2:p.Arg827="
          },
          "RefSeq": {
            "hgvs": "NP_065099.3:p.Arg827="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "endIntronDirection": "-",
          "endIntronOffset": 1679,
          "referenceAllele": "G",
          "start": 768,
          "startIntronDirection": "-",
          "startIntronOffset": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000382933.8:c.689-1680G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372391.4:n.689-1680G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2480,
          "referenceAllele": "G",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000400017.6:c.2480G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382895.2:p.Arg827="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1412,
          "referenceAllele": "G",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000553927.1:n.1412G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000555322.5:c.907G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000555489.5:c.673G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451044.1:n.673G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000555587.5:c.905G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451262.1:p.Arg302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1719,
          "endIntronDirection": "-",
          "endIntronOffset": 1679,
          "referenceAllele": "G",
          "start": 1719,
          "startIntronDirection": "-",
          "startIntronOffset": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000556336.5:c.1682-1680G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450445.1:n.1682-1680G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2404,
          "referenceAllele": "G",
          "start": 2403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000557771.5:c.2366G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451219.1:p.Arg789="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373296"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081102544",
      "coordinates": [
        {
          "allele": "G",
          "end": 2480,
          "referenceAllele": "G",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_020366.3:c.2480G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065099.3:p.Arg827="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_005267879.2:c.1406G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267936.1:p.Arg469="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1439,
          "referenceAllele": "G",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_005267880.2:c.1373G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267937.1:p.Arg458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_005267881.2:c.854G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267938.1:p.Arg285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536978.1:c.1406G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535280.1:p.Arg469="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1256,
          "referenceAllele": "G",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536979.1:c.1190G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535281.1:p.Arg397="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "G",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536980.1:c.1061G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535282.1:p.Arg354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1207,
          "endIntronDirection": "+",
          "endIntronOffset": 873,
          "referenceAllele": "G",
          "start": 1207,
          "startIntronDirection": "+",
          "startIntronOffset": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536981.1:c.1141+873G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535283.1:n.1141+873G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "endIntronDirection": "+",
          "endIntronOffset": 1218,
          "referenceAllele": "G",
          "start": 862,
          "startIntronDirection": "+",
          "startIntronOffset": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536982.1:c.796+1218G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535284.1:n.796+1218G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2462,
          "referenceAllele": "G",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536983.1:c.2447G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011535285.1:p.Arg816="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 967,
          "referenceAllele": "G",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_005267881.3:c.854G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005267938.1:p.Arg285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1207,
          "endIntronDirection": "+",
          "endIntronOffset": 873,
          "referenceAllele": "G",
          "start": 1207,
          "startIntronDirection": "+",
          "startIntronOffset": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_017021473.1:c.1141+873G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876962.1:n.1141+873G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_024449663.1:c.1406G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305431.1:p.Arg469="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1207,
          "endIntronDirection": "+",
          "endIntronOffset": 873,
          "referenceAllele": "G",
          "start": 1207,
          "startIntronDirection": "+",
          "startIntronOffset": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_024449664.1:c.1141+873G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305432.1:n.1141+873G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "endIntronDirection": "+",
          "endIntronOffset": 1218,
          "referenceAllele": "G",
          "start": 862,
          "startIntronDirection": "+",
          "startIntronOffset": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_024449665.1:c.796+1218G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305433.1:n.796+1218G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "endIntronDirection": "+",
          "endIntronOffset": 1218,
          "referenceAllele": "G",
          "start": 862,
          "startIntronDirection": "+",
          "startIntronOffset": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_024449666.1:c.796+1218G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305434.1:n.796+1218G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "endIntronDirection": "-",
          "endIntronOffset": 1679,
          "referenceAllele": "G",
          "start": 754,
          "startIntronDirection": "-",
          "startIntronOffset": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377523.1:c.689-1680G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364452.1:n.689-1680G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377948.1:c.1406G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364877.1:p.Arg469="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "endIntronDirection": "+",
          "endIntronOffset": 1218,
          "referenceAllele": "G",
          "start": 862,
          "startIntronDirection": "+",
          "startIntronOffset": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377949.1:c.796+1218G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364878.1:n.796+1218G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "endIntronDirection": "-",
          "endIntronOffset": 1679,
          "referenceAllele": "G",
          "start": 754,
          "startIntronDirection": "-",
          "startIntronOffset": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377950.1:c.689-1680G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364879.1:n.689-1680G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721332"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 348,
          "endIntronDirection": "-",
          "endIntronOffset": 1679,
          "referenceAllele": "G",
          "start": 348,
          "startIntronDirection": "-",
          "startIntronOffset": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377951.1:c.191-1680G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364880.1:n.191-1680G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081102544",
      "coordinates": [
        {
          "allele": "G",
          "end": 2595,
          "referenceAllele": "G",
          "start": 2594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_020366.4:c.2480G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065099.3:p.Arg827="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000400017.7:c.2480G="
          },
          "RefSeq": {
            "hgvs": "NM_020366.4:c.2480G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382895.2:p.Arg827="
          },
          "RefSeq": {
            "hgvs": "NP_065099.3:p.Arg827="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}