{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10647702",
  "communityStandardTitle": [
    "NM_015272.5(RPGRIP1L):c.*1584G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=341773[alleleid]",
        "alleleId": 341773,
        "preferredName": "NM_015272.5(RPGRIP1L):c.*1584G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/319626",
        "RCV": [
          "RCV000260902",
          "RCV000316080",
          "RCV000379947",
          "RCV003422270"
        ],
        "variationId": 319626
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.53634404C>A?assembly=hg19",
        "id": "chr16:g.53634404C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.53600492C>A?assembly=hg38",
        "id": "chr16:g.53600492C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151226475",
        "rs": 151226475
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-53634404-C-A?dataset=gnomad_r2_1",
        "id": "16-53634404-C-A",
        "variant": "16:53634404 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-53600492-C-A?dataset=gnomad_r3",
        "id": "16-53600492-C-A",
        "variant": "16:53600492 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-53600492-C-A?dataset=gnomad_r4",
        "id": "16-53600492-C-A",
        "variant": "16:53600492 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 53600492,
          "referenceAllele": "C",
          "start": 53600491
        }
      ],
      "hgvs": [
        "NC_000016.10:g.53600492C>A",
        "CM000678.2:g.53600492C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 53634404,
          "referenceAllele": "C",
          "start": 53634403
        }
      ],
      "hgvs": [
        "NC_000016.9:g.53634404C>A",
        "CM000678.1:g.53634404C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 52191905,
          "referenceAllele": "C",
          "start": 52191904
        }
      ],
      "hgvs": [
        "NC_000016.8:g.52191905C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108368,
          "referenceAllele": "G",
          "start": 108367
        }
      ],
      "hgvs": [
        "NG_008991.2:g.108368G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001362"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5386,
          "referenceAllele": "G",
          "start": 5385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000262135.9:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262135.4:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5956,
          "referenceAllele": "G",
          "start": 5955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000565343.2:n.5956G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5440,
          "referenceAllele": "G",
          "start": 5439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000621565.5:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480698.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5596,
          "referenceAllele": "G",
          "start": 5595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000647211.2:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493946.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769289",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647211.2:c.*1584G>T"
          },
          "RefSeq": {
            "hgvs": "NM_015272.5:c.*1584G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493946.1:n.*1584G>T"
          },
          "RefSeq": {
            "hgvs": "NP_056087.2:n.*1584G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5665,
          "referenceAllele": "G",
          "start": 5664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000680193.1:c.*2292G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506379.1:n.*2292G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3304,
          "referenceAllele": "G",
          "start": 3303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000681587.1:n.3304G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5386,
          "referenceAllele": "G",
          "start": 5385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000262135.8:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262135.4:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5458,
          "referenceAllele": "G",
          "start": 5457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000621565.4:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480698.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5356,
          "referenceAllele": "G",
          "start": 5355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001127897.1:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121369.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5431,
          "referenceAllele": "G",
          "start": 5430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001127897.2:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121369.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5533,
          "referenceAllele": "G",
          "start": 5532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001308334.1:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295263.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5596,
          "referenceAllele": "G",
          "start": 5595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_015272.2:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056087.2:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5671,
          "referenceAllele": "G",
          "start": 5670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_015272.3:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056087.2:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5462,
          "referenceAllele": "G",
          "start": 5461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_005255867.1:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255924.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5438,
          "referenceAllele": "G",
          "start": 5437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_005255868.1:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255925.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3792,
          "referenceAllele": "G",
          "start": 3791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_005255871.2:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255928.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5810,
          "referenceAllele": "G",
          "start": 5809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522968.1:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521270.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090109"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3751,
          "referenceAllele": "G",
          "start": 3750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522974.1:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521276.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5435,
          "referenceAllele": "G",
          "start": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001127897.3:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121369.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5537,
          "referenceAllele": "G",
          "start": 5536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001308334.2:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295263.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5573,
          "referenceAllele": "G",
          "start": 5572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001330538.1:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317467.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5675,
          "referenceAllele": "G",
          "start": 5674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_015272.4:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056087.2:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5449,
          "referenceAllele": "G",
          "start": 5448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_005255868.2:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255925.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5587,
          "referenceAllele": "G",
          "start": 5586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023094.2:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878583.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5347,
          "referenceAllele": "G",
          "start": 5346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023095.2:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878584.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4539,
          "referenceAllele": "G",
          "start": 4538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023098.1:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878587.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3905,
          "referenceAllele": "G",
          "start": 3904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023099.1:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878588.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5596,
          "referenceAllele": "G",
          "start": 5595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_015272.5:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056087.2:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647211.2:c.*1584G>T"
          },
          "RefSeq": {
            "hgvs": "NM_015272.5:c.*1584G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493946.1:n.*1584G>T"
          },
          "RefSeq": {
            "hgvs": "NP_056087.2:n.*1584G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5356,
          "referenceAllele": "G",
          "start": 5355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001127897.4:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121369.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5494,
          "referenceAllele": "G",
          "start": 5493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001330538.2:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317467.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5458,
          "referenceAllele": "G",
          "start": 5457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001308334.3:c.*1584G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295263.1:n.*1584G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717273"
    }
  ],
  "type": "nucleotide"
}