{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA201680",
  "communityStandardTitle": [
    "NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=263433",
        "active": true,
        "id": "COSM263433"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3494808",
        "active": true,
        "id": "COSM3494808"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192516[alleleid]",
        "alleleId": 192516,
        "preferredName": "NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195355",
        "RCV": [
          "RCV000175918",
          "RCV000724658",
          "RCV001261169",
          "RCV001852161"
        ],
        "variationId": 195355
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-21762904-C-T",
        "id": "14-21762904-C-T",
        "variant": "14:21762904 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.21762904C>T?assembly=hg19",
        "id": "chr14:g.21762904C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.21294745C>T?assembly=hg38",
        "id": "chr14:g.21294745C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/192003551",
        "rs": 192003551
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-21762904-C-T?dataset=gnomad_r2_1",
        "id": "14-21762904-C-T",
        "variant": "14:21762904 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-21294745-C-T?dataset=gnomad_r3",
        "id": "14-21294745-C-T",
        "variant": "14:21294745 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-21294745-C-T?dataset=gnomad_r4",
        "id": "14-21294745-C-T",
        "variant": "14:21294745 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 21294745,
          "referenceAllele": "C",
          "start": 21294744
        }
      ],
      "hgvs": [
        "NC_000014.9:g.21294745C>T",
        "CM000676.2:g.21294745C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 21762904,
          "referenceAllele": "C",
          "start": 21762903
        }
      ],
      "hgvs": [
        "NC_000014.8:g.21762904C>T",
        "CM000676.1:g.21762904C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 20832744,
          "referenceAllele": "C",
          "start": 20832743
        }
      ],
      "hgvs": [
        "NC_000014.7:g.20832744C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11769,
          "referenceAllele": "C",
          "start": 11768
        }
      ],
      "hgvs": [
        "NG_008933.1:g.11769C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001311"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000400017.7:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382895.2:p.Arg52Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753892",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000400017.7:c.154C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020366.4:c.154C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382895.2:p.Arg52Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065099.3:p.Arg52Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "referenceAllele": "C",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000400017.6:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382895.2:p.Arg52Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 192,
          "referenceAllele": "C",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000556336.5:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450445.1:p.Arg52Ter",
        "hgvsWellDefined": "ENSP00000450445.1:p.Arg52_Ser943delinsLeuArgGluAspHisMetLeuValLysGluLeuSerTrpLysGlnGlnAspGluIleLysArgLeuArgThrThrLeuLeuArgLeuThrAlaAlaGlyArgAspLeuArgValAlaGluGluAlaAlaProLeuSerGluThrAlaArgArgGlyGlnLysAlaGlyTrpArgGlnArgLeuSerMetHisGlnArgProGlnMetHisArgLeuGlnGlyHisPheHisCysValGlyProAlaSerProArgArgAlaGlnProArgValGlnValGlyHisArgGlnLeuHisThrAlaGlyAlaProValProGluLysProLysArgGlyProArgAspArgLeuSerTyrThrAlaProProSerPheLysGluHisAlaThrAsnGluAsnArgGlyGluValAlaSerLysProSerGluLeuAlaHisIleMetAlaSerAsnThrMetGlnValGluGluProProLysSerProGluLysMetTrpProLysAspGluAsnPheGluGlnArgSerSerLeuGluCysAlaGlnLysAlaAlaGluLeuArgAlaSerIleLysGluLysValGluLeuIleArgLeuLysLysLeuLeuHisGluArgAsnAlaSerLeuValMetThrLysAlaGlnLeuThrGluValGlnGluAlaTyrGluThrLeuLeuGlnLysAsnGlnGlyIleLeuSerAlaAlaHisGluAlaLeuLeuLysGlnValAsnGluLeuArgAlaGluLeuLysGluGluSerLysLysAlaValSerLeuLysSerGlnLeuGluAspValSerIleLeuGlnMetThrLeuLysGluPheGlnGluArgValGluAspLeuGluLysGluArgLysLeuLeuAsnAspAsnTyrAspLysLeuLeuGluSerMetLeuAspSerSerAspSerSerSerGlnProHisTrpSerAsnGluLeuIleAlaGluGlnLeuGlnGlnGlnValSerGlnLeuGlnAspGlnLeuAspAlaGluLeuGluAspLysArgLysValLeuLeuGluLeuSerArgGluLysAlaGlnAsnGluAspLeuLysLeuGluValThrAsnIleLeuGlnLysHisLysGlnGluValGluLeuLeuGlnAsnAlaAlaThrIleSerGlnProProAspArgGlnSerGluProAlaThrHisProAlaValLeuGlnGluAsnThrGlnIleGluProSerGluProLysAsnGlnGluGluLysLysLeuSerGlnValLeuAsnGluLeuGlnValSerHisAlaGluThrThrLeuGluLeuGluLysThrArgAspMetLeuIleLeuGlnArgLysIleAsnValCysTyrGlnGluGluLeuGluAlaMetMetThrLysAlaAspAsnAspAsnArgAspHisLysGluLysLeuGluArgLeuThrArgLeuLeuAspLeuLysAsnAsnArgIleLysGlnLeuGluGlyIleLeuArgSerHisAspLeuProThrSerGlyAspPheAsnLeuThrAspProAlaGluLysProAsnGlySerIleGlnValGlnLeuAspTrpLysPheProTyrIleProProGluSerPheLeuLysProGluAlaGlnThrLysGlyLysAspThrLysAspSerSerLysIleSerSerGluGluGluLysAlaSerPheProSerGlnAspGlnMetAlaSerProGluValProIleGluAlaGlyGlnTyrArgSerLysArgLysProProHisGlyGlyGluArgLysGluLysGluHisGlnValValSerTyrSerArgArgLysHisGlyLysArgIleGlyValGlnGlyLysAsnArgMetGluTyrLeuSerLeuAsnIleLeuAsnGlyAsnThrProGluGlnValAsnTyrThrGluTrpLysPheSerGluThrAsnSerPheIleGlyAspGlyPheLysAsnGlnHisGluGluGluGluMetThrLeuSerHisSerAlaLeuLysGlnLysGluProLeuHisProValAsnAspLysGluSerSerGluGlnGlySerGluValSerGluAlaGlnThrThrAspSerAspAspValIleValProProMetSerGlnLysTyrProLysAlaAspSerGluLysMetCysIleGluIleValSerLeuAlaPheTyrProGluAlaGluValMetSerAspGluAsnIleLysGlnValTyrValGluTyrLysPheTyrAspLeuProLeuSerGluThrGluThrProValSerLeuArgLysProArgAlaGlyGluGluIleHisPheHisPheSerLysValIleAspLeuAspProGlnGluGlnGlnGlyArgArgArgPheLeuPheAspMetLeuAsnGlyGlnAspProAspGlnGlyHisLeuLysPheThrValValSerAspProLeuAspGluGluLysLysGluCysGluGluValGlyTyrAlaTyrLeuGlnLeuTrpGlnIleLeuGluSerGlyArgAspIleLeuGluGlnGluLeuAspIleValSerProGluAspLeuAlaThrProIleGlyArgLeuLysValSerLeuGlnAlaAlaAlaValLeuHisAlaIleTyrLysGluMetThrGluAspLeuPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 192,
          "referenceAllele": "C",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000557771.5:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451219.1:p.Arg52Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "referenceAllele": "C",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_020366.3:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065099.3:p.Arg52Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "referenceAllele": "C",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536983.1:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535285.1:p.Arg52Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_020366.4:c.154C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065099.3:p.Arg52Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000400017.7:c.154C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020366.4:c.154C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382895.2:p.Arg52Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065099.3:p.Arg52Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}