{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2223241028", "communityStandardTitle": [ "NM_015272.5(RPGRIP1L):c.3187G= (p.Glu1063=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520162", "rs": 1057520162 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 53637728, "referenceAllele": "C", "start": 53637727 } ], "hgvs": [ "NC_000016.10:g.53637728C=", "CM000678.2:g.53637728C=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 53671640, "referenceAllele": "C", "start": 53671639 } ], "hgvs": [ "NC_000016.9:g.53671640C=", "CM000678.1:g.53671640C=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 52229141, "referenceAllele": "C", "start": 52229140 } ], "hgvs": [ "NC_000016.8:g.52229141C=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "G", "end": 71132, "referenceAllele": "G", "start": 71131 } ], "hgvs": [ "NG_008991.2:g.71132G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001362" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3179, "referenceAllele": "G", "start": 3178 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000262135.9:c.3085G=" ], "proteinEffect": { "hgvs": "ENSP00000262135.4:p.Glu1029=" }, "referenceSequence": "http://reg.genome.network/refseq/RS742281" }, { "coordinates": [ { "allele": "G", "end": 3611, "referenceAllele": "G", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000565343.2:n.3611G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS760464" }, { "coordinates": [ { "allele": "G", "end": 3233, "referenceAllele": "G", "start": 3232 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000621565.5:c.3187G=" ], "proteinEffect": { "hgvs": "ENSP00000480698.1:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS762332" }, { "coordinates": [ { "allele": "G", "end": 3251, "referenceAllele": "G", "start": 3250 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000647211.2:c.3187G=" ], "proteinEffect": { "hgvs": "ENSP00000493946.1:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS769289", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647211.2:c.3187G=" }, "RefSeq": { "hgvs": "NM_015272.5:c.3187G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493946.1:p.Glu1063=" }, "RefSeq": { "hgvs": "NP_056087.2:p.Glu1063=" } } } }, { "coordinates": [ { "allele": "G", "end": 3233, "referenceAllele": "G", "start": 3232 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000680193.1:c.3187G=" ], "proteinEffect": { "hgvs": "ENSP00000506379.1:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS779813" }, { "coordinates": [ { "allele": "G", "end": 1097, "referenceAllele": "G", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000681587.1:n.1097G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS781193" }, { "coordinates": [ { "allele": "G", "end": 3179, "referenceAllele": "G", "start": 3178 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000262135.8:c.3085G=" ], "proteinEffect": { "hgvs": "ENSP00000262135.4:p.Glu1029=" }, "referenceSequence": "http://reg.genome.network/refseq/RS250939" }, { "coordinates": [ { "allele": "G", "end": 3238, "referenceAllele": "G", "start": 3237 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000379925.7:c.3187G=" ], "proteinEffect": { "hgvs": "ENSP00000369257.3:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS272700" }, { "coordinates": [ { "allele": "G", "end": 3137, "referenceAllele": "G", "start": 3136 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000563746.5:c.3085G=" ], "proteinEffect": { "hgvs": "ENSP00000457889.1:p.Glu1029=" }, "referenceSequence": "http://reg.genome.network/refseq/RS377628" }, { "coordinates": [ { "allele": "G", "end": 3281, "referenceAllele": "G", "start": 3280 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000564374.5:c.3187G=" ], "proteinEffect": { "hgvs": "ENSP00000456534.1:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS378050" }, { "coordinates": [ { "allele": "G", "end": 192, "referenceAllele": "G", "start": 191 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000568009.1:n.192G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS380494" }, { "coordinates": [ { "allele": "G", "end": 3251, "referenceAllele": "G", "start": 3250 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000621565.4:c.3187G=" ], "proteinEffect": { "hgvs": "ENSP00000480698.1:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS405328" }, { "coordinates": [ { "allele": "G", "end": 3149, "referenceAllele": "G", "start": 3148 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.1:c.3085G=" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Glu1029=" }, "referenceSequence": "http://reg.genome.network/refseq/RS011707" }, { "coordinates": [ { "allele": "G", "end": 3224, "referenceAllele": "G", "start": 3223 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.2:c.3085G=" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Glu1029=" }, "referenceSequence": "http://reg.genome.network/refseq/RS011708" }, { "coordinates": [ { "allele": "G", "end": 3326, "referenceAllele": "G", "start": 3325 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.1:c.3187G=" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS026290" }, { "@id": "http://reg.genome.network/allele/PA3083289375", "coordinates": [ { "allele": "G", "end": 3251, "referenceAllele": "G", "start": 3250 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.2:c.3187G=" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS033885" }, { "@id": "http://reg.genome.network/allele/PA3083289375", "coordinates": [ { "allele": "G", "end": 3326, "referenceAllele": "G", "start": 3325 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.3:c.3187G=" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS033886" }, { "coordinates": [ { "allele": "G", "end": 3117, "referenceAllele": "G", "start": 3116 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255867.1:c.3085G=" ], "proteinEffect": { "hgvs": "XP_005255924.1:p.Glu1029=" }, "referenceSequence": "http://reg.genome.network/refseq/RS061084" }, { "coordinates": [ { "allele": "G", "end": 3231, "referenceAllele": "G", "start": 3230 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255868.1:c.3199G=" ], "proteinEffect": { "hgvs": "XP_005255925.1:p.Glu1067=" }, "referenceSequence": "http://reg.genome.network/refseq/RS061085" }, { "coordinates": [ { "allele": "G", "end": 1585, "referenceAllele": "G", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255871.2:c.1432G=" ], "proteinEffect": { "hgvs": "XP_005255928.1:p.Glu478=" }, "referenceSequence": "http://reg.genome.network/refseq/RS061086" }, { "coordinates": [ { "allele": "G", "end": 3465, "referenceAllele": "G", "start": 3464 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522968.1:c.3187G=" ], "proteinEffect": { "hgvs": "XP_011521270.1:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS090109" }, { "coordinates": [ { "allele": "G", "end": 3231, "referenceAllele": "G", "start": 3230 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522969.1:c.3199G=" ], "proteinEffect": { "hgvs": "XP_011521271.1:p.Glu1067=" }, "referenceSequence": "http://reg.genome.network/refseq/RS090110" }, { "coordinates": [ { "allele": "G", "end": 3231, "referenceAllele": "G", "start": 3230 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.1:c.3199G=" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Glu1067=" }, "referenceSequence": "http://reg.genome.network/refseq/RS090111" }, { "coordinates": [ { "allele": "G", "end": 3231, "referenceAllele": "G", "start": 3230 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.1:c.3199G=" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Glu1067=" }, "referenceSequence": "http://reg.genome.network/refseq/RS090112" }, { "coordinates": [ { "allele": "G", "end": 3231, "referenceAllele": "G", "start": 3230 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522972.1:c.3199G=" ], "proteinEffect": { "hgvs": "XP_011521274.1:p.Glu1067=" }, "referenceSequence": "http://reg.genome.network/refseq/RS090113" }, { "coordinates": [ { "allele": "G", "end": 3231, "referenceAllele": "G", "start": 3230 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.1:c.3199G=" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Glu1067=" }, "referenceSequence": "http://reg.genome.network/refseq/RS090114" }, { "coordinates": [ { "allele": "G", "end": 1544, "referenceAllele": "G", "start": 1543 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522974.1:c.1432G=" ], "proteinEffect": { "hgvs": "XP_011521276.1:p.Glu478=" }, "referenceSequence": "http://reg.genome.network/refseq/RS090115" }, { "coordinates": [ { "allele": "G", "end": 3231, "referenceAllele": "G", "start": 3230 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.1:n.3231G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS128947" }, { "coordinates": [ { "allele": "G", "end": 3228, "referenceAllele": "G", "start": 3227 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.3:c.3085G=" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Glu1029=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511415" }, { "coordinates": [ { "allele": "G", "end": 3330, "referenceAllele": "G", "start": 3329 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.2:c.3187G=" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS512380" }, { "coordinates": [ { "allele": "G", "end": 3228, "referenceAllele": "G", "start": 3227 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.1:c.3085G=" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Glu1029=" }, "referenceSequence": "http://reg.genome.network/refseq/RS516906" }, { "@id": "http://reg.genome.network/allele/PA3083289375", "coordinates": [ { "allele": "G", "end": 3330, "referenceAllele": "G", "start": 3329 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.4:c.3187G=" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS525674" }, { "coordinates": [ { "allele": "G", "end": 3242, "referenceAllele": "G", "start": 3241 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255868.2:c.3199G=" ], "proteinEffect": { "hgvs": "XP_005255925.1:p.Glu1067=" }, "referenceSequence": "http://reg.genome.network/refseq/RS534352" }, { "coordinates": [ { "allele": "G", "end": 3242, "referenceAllele": "G", "start": 3241 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.2:c.3199G=" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Glu1067=" }, "referenceSequence": "http://reg.genome.network/refseq/RS546829" }, { "coordinates": [ { "allele": "G", "end": 3242, "referenceAllele": "G", "start": 3241 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.3:c.3199G=" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Glu1067=" }, "referenceSequence": "http://reg.genome.network/refseq/RS546830" }, { "coordinates": [ { "allele": "G", "end": 3242, "referenceAllele": "G", "start": 3241 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.3:c.3199G=" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Glu1067=" }, "referenceSequence": "http://reg.genome.network/refseq/RS546831" }, { "coordinates": [ { "allele": "G", "end": 3242, "referenceAllele": "G", "start": 3241 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023094.2:c.3199G=" ], "proteinEffect": { "hgvs": "XP_016878583.1:p.Glu1067=" }, "referenceSequence": "http://reg.genome.network/refseq/RS573910" }, { "coordinates": [ { "allele": "G", "end": 3140, "referenceAllele": "G", "start": 3139 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023095.2:c.3097G=" ], "proteinEffect": { "hgvs": "XP_016878584.1:p.Glu1033=" }, "referenceSequence": "http://reg.genome.network/refseq/RS573911" }, { "coordinates": [ { "allele": "G", "end": 3242, "referenceAllele": "G", "start": 3241 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023096.2:c.3199G=" ], "proteinEffect": { "hgvs": "XP_016878585.1:p.Glu1067=" }, "referenceSequence": "http://reg.genome.network/refseq/RS573912" }, { "coordinates": [ { "allele": "G", "end": 2194, "referenceAllele": "G", "start": 2193 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023098.1:c.1432G=" ], "proteinEffect": { "hgvs": "XP_016878587.1:p.Glu478=" }, "referenceSequence": "http://reg.genome.network/refseq/RS573914" }, { "coordinates": [ { "allele": "G", "end": 1560, "referenceAllele": "G", "start": 1559 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023099.1:c.1432G=" ], "proteinEffect": { "hgvs": "XP_016878588.1:p.Glu478=" }, "referenceSequence": "http://reg.genome.network/refseq/RS573915" }, { "coordinates": [ { "allele": "G", "end": 3242, "referenceAllele": "G", "start": 3241 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.3:n.3242G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS610401" }, { "@id": "http://reg.genome.network/allele/PA3083289375", "coordinates": [ { "allele": "G", "end": 3251, "referenceAllele": "G", "start": 3250 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.5:c.3187G=" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS668699", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647211.2:c.3187G=" }, "RefSeq": { "hgvs": "NM_015272.5:c.3187G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493946.1:p.Glu1063=" }, "RefSeq": { "hgvs": "NP_056087.2:p.Glu1063=" } } } }, { "coordinates": [ { "allele": "G", "end": 3149, "referenceAllele": "G", "start": 3148 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.4:c.3085G=" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Glu1029=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676952" }, { "coordinates": [ { "allele": "G", "end": 3149, "referenceAllele": "G", "start": 3148 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.2:c.3085G=" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Glu1029=" }, "referenceSequence": "http://reg.genome.network/refseq/RS686996" }, { "coordinates": [ { "allele": "G", "end": 3251, "referenceAllele": "G", "start": 3250 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.3:c.3187G=" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Glu1063=" }, "referenceSequence": "http://reg.genome.network/refseq/RS717273" } ], "type": "nucleotide" }