{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7088743",
  "communityStandardTitle": [
    "NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=551569[alleleid]",
        "alleleId": 551569,
        "preferredName": "NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/560507",
        "RCV": [
          "RCV000678628",
          "RCV002532181"
        ],
        "variationId": 560507
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-21771701-C-T",
        "id": "14-21771701-C-T",
        "variant": "14:21771701 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.21771701C>T?assembly=hg19",
        "id": "chr14:g.21771701C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.21303542C>T?assembly=hg38",
        "id": "chr14:g.21303542C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/554396590",
        "rs": 554396590
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-21771701-C-T?dataset=gnomad_r2_1",
        "id": "14-21771701-C-T",
        "variant": "14:21771701 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-21303542-C-T?dataset=gnomad_r3",
        "id": "14-21303542-C-T",
        "variant": "14:21303542 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-21303542-C-T?dataset=gnomad_r4",
        "id": "14-21303542-C-T",
        "variant": "14:21303542 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 21303542,
          "referenceAllele": "C",
          "start": 21303541
        }
      ],
      "hgvs": [
        "NC_000014.9:g.21303542C>T",
        "CM000676.2:g.21303542C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 21771701,
          "referenceAllele": "C",
          "start": 21771700
        }
      ],
      "hgvs": [
        "NC_000014.8:g.21771701C>T",
        "CM000676.1:g.21771701C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 20841541,
          "referenceAllele": "C",
          "start": 20841540
        }
      ],
      "hgvs": [
        "NC_000014.7:g.20841541C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20566,
          "referenceAllele": "C",
          "start": 20565
        }
      ],
      "hgvs": [
        "NG_008933.1:g.20566C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001311"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 914,
          "referenceAllele": "C",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000400017.7:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382895.2:p.Arg267Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753892",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000400017.7:c.799C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020366.4:c.799C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382895.2:p.Arg267Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065099.3:p.Arg267Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000400017.6:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382895.2:p.Arg267Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000556336.5:c.718C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450445.1:p.Arg240Ter",
        "hgvsWellDefined": "ENSP00000450445.1:p.Arg240_Ser943delinsAlaSerIleLysGluLysValGluLeuIleArgLeuLysLysLeuLeuHisGluArgAsnAlaSerLeuValMetThrLysAlaGlnLeuThrGluValGlnGluAlaTyrGluThrLeuLeuGlnLysAsnGlnGlyIleLeuSerAlaAlaHisGluAlaLeuLeuLysGlnValAsnGluLeuArgAlaGluLeuLysGluGluSerLysLysAlaValSerLeuLysSerGlnLeuGluAspValSerIleLeuGlnMetThrLeuLysGluPheGlnGluArgValGluAspLeuGluLysGluArgLysLeuLeuAsnAspAsnTyrAspLysLeuLeuGluSerMetLeuAspSerSerAspSerSerSerGlnProHisTrpSerAsnGluLeuIleAlaGluGlnLeuGlnGlnGlnValSerGlnLeuGlnAspGlnLeuAspAlaGluLeuGluAspLysArgLysValLeuLeuGluLeuSerArgGluLysAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000557771.5:c.718C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451219.1:p.Arg240Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_020366.3:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065099.3:p.Arg267Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536983.1:c.766C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535285.1:p.Arg256Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 914,
          "referenceAllele": "C",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_020366.4:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065099.3:p.Arg267Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000400017.7:c.799C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020366.4:c.799C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382895.2:p.Arg267Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065099.3:p.Arg267Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}