{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8057978", "communityStandardTitle": [ "NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=971499", "active": true, "id": "COSM971499" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269093[alleleid]", "alleleId": 269093, "preferredName": "NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/284856", "RCV": [ "RCV000270824", "RCV001117361", "RCV001117362", "RCV001117363", "RCV001833337", "RCV002480021", "RCV000800938", "RCV004535336" ], "variationId": 284856 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-53706901-C-T", "id": "16-53706901-C-T", "variant": "16:53706901 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.53706901C>T?assembly=hg19", "id": "chr16:g.53706901C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.53672989C>T?assembly=hg38", "id": "chr16:g.53672989C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/530772984", "rs": 530772984 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-53706901-C-T?dataset=gnomad_r2_1", "id": "16-53706901-C-T", "variant": "16:53706901 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-53672989-C-T?dataset=gnomad_r3", "id": "16-53672989-C-T", "variant": "16:53672989 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-53672989-C-T?dataset=gnomad_r4", "id": "16-53672989-C-T", "variant": "16:53672989 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 53672989, "referenceAllele": "C", "start": 53672988 } ], "hgvs": [ "NC_000016.10:g.53672989C>T", "CM000678.2:g.53672989C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 53706901, "referenceAllele": "C", "start": 53706900 } ], "hgvs": [ "NC_000016.9:g.53706901C>T", "CM000678.1:g.53706901C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 52264402, "referenceAllele": "C", "start": 52264401 } ], "hgvs": [ "NC_000016.8:g.52264402C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 35871, "referenceAllele": "G", "start": 35870 } ], "hgvs": [ "NG_008991.2:g.35871G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001362" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1004, "referenceAllele": "G", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000262135.9:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000262135.4:p.Asp304Asn", "hgvsWellDefined": "ENSP00000262135.4:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS742281" }, { "coordinates": [ { "allele": "A", "end": 956, "referenceAllele": "G", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000621565.5:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000480698.1:p.Asp304Asn", "hgvsWellDefined": "ENSP00000480698.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS762332" }, { "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000647211.2:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000493946.1:p.Asp304Asn", "hgvsWellDefined": "ENSP00000493946.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS769289", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647211.2:c.910G>A" }, "RefSeq": { "hgvs": "NM_015272.5:c.910G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493946.1:p.Asp304Asn" }, "RefSeq": { "hgvs": "NP_056087.2:p.Asp304Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 956, "referenceAllele": "G", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000680193.1:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000506379.1:p.Asp304Asn", "hgvsWellDefined": "ENSP00000506379.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS779813" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000680907.1:n.953G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780521" }, { "coordinates": [ { "allele": "A", "end": 1004, "referenceAllele": "G", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000262135.8:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000262135.4:p.Asp304Asn", "hgvsWellDefined": "ENSP00000262135.4:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS250939" }, { "coordinates": [ { "allele": "A", "end": 961, "referenceAllele": "G", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000379925.7:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000369257.3:p.Asp304Asn", "hgvsWellDefined": "ENSP00000369257.3:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS272700" }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000562230.5:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000455295.1:p.Asp304Asn", "hgvsWellDefined": "ENSP00000455295.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS376654" }, { "coordinates": [ { "allele": "A", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000563746.5:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000457889.1:p.Asp304Asn", "hgvsWellDefined": "ENSP00000457889.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS377628" }, { "coordinates": [ { "allele": "A", "end": 1004, "referenceAllele": "G", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000564374.5:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000456534.1:p.Asp304Asn", "hgvsWellDefined": "ENSP00000456534.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS378050" }, { "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "ENST00000621565.4:c.910G>A" ], "proteinEffect": { "hgvs": "ENSP00000480698.1:p.Asp304Asn", "hgvsWellDefined": "ENSP00000480698.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS405328" }, { "@id": "http://reg.genome.network/allele/PA2825661630", "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.1:c.910G>A" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Asp304Asn", "hgvsWellDefined": "NP_001121369.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS011707" }, { "@id": "http://reg.genome.network/allele/PA2825661630", "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.2:c.910G>A" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Asp304Asn", "hgvsWellDefined": "NP_001121369.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS011708" }, { "@id": "http://reg.genome.network/allele/PA2826934028", "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.1:c.910G>A" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Asp304Asn", "hgvsWellDefined": "NP_001295263.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS026290" }, { "@id": "http://reg.genome.network/allele/PA645501451", "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.2:c.910G>A" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Asp304Asn", "hgvsWellDefined": "NP_056087.2:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS033885" }, { "@id": "http://reg.genome.network/allele/PA645501451", "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.3:c.910G>A" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Asp304Asn", "hgvsWellDefined": "NP_056087.2:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS033886" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255867.1:c.910G>A" ], "proteinEffect": { "hgvs": "XP_005255924.1:p.Asp304Asn", "hgvsWellDefined": "XP_005255924.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS061084" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255868.1:c.910G>A" ], "proteinEffect": { "hgvs": "XP_005255925.1:p.Asp304Asn", "hgvsWellDefined": "XP_005255925.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS061085" }, { "coordinates": [ { "allele": "A", "end": 1188, "referenceAllele": "G", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522968.1:c.910G>A" ], "proteinEffect": { "hgvs": "XP_011521270.1:p.Asp304Asn", "hgvsWellDefined": "XP_011521270.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS090109" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522969.1:c.910G>A" ], "proteinEffect": { "hgvs": "XP_011521271.1:p.Asp304Asn", "hgvsWellDefined": "XP_011521271.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS090110" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.1:c.910G>A" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Asp304Asn", "hgvsWellDefined": "XP_011521272.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS090111" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.1:c.910G>A" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Asp304Asn", "hgvsWellDefined": "XP_011521273.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS090112" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522972.1:c.910G>A" ], "proteinEffect": { "hgvs": "XP_011521274.1:p.Asp304Asn", "hgvsWellDefined": "XP_011521274.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS090113" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.1:c.910G>A" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Asp304Asn", "hgvsWellDefined": "XP_011521275.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS090114" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.1:n.942G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128947" }, { "@id": "http://reg.genome.network/allele/PA2825661630", "coordinates": [ { "allele": "A", "end": 1053, "referenceAllele": "G", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.3:c.910G>A" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Asp304Asn", "hgvsWellDefined": "NP_001121369.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511415" }, { "@id": "http://reg.genome.network/allele/PA2826934028", "coordinates": [ { "allele": "A", "end": 1053, "referenceAllele": "G", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.2:c.910G>A" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Asp304Asn", "hgvsWellDefined": "NP_001295263.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS512380" }, { "@id": "http://reg.genome.network/allele/PA2827321077", "coordinates": [ { "allele": "A", "end": 1053, "referenceAllele": "G", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.1:c.910G>A" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Asp304Asn", "hgvsWellDefined": "NP_001317467.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS516906" }, { "@id": "http://reg.genome.network/allele/PA645501451", "coordinates": [ { "allele": "A", "end": 1053, "referenceAllele": "G", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.4:c.910G>A" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Asp304Asn", "hgvsWellDefined": "NP_056087.2:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS525674" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_005255868.2:c.910G>A" ], "proteinEffect": { "hgvs": "XP_005255925.1:p.Asp304Asn", "hgvsWellDefined": "XP_005255925.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS534352" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522970.2:c.910G>A" ], "proteinEffect": { "hgvs": "XP_011521272.1:p.Asp304Asn", "hgvsWellDefined": "XP_011521272.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS546829" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522971.3:c.910G>A" ], "proteinEffect": { "hgvs": "XP_011521273.1:p.Asp304Asn", "hgvsWellDefined": "XP_011521273.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS546830" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_011522973.3:c.910G>A" ], "proteinEffect": { "hgvs": "XP_011521275.1:p.Asp304Asn", "hgvsWellDefined": "XP_011521275.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS546831" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023094.2:c.910G>A" ], "proteinEffect": { "hgvs": "XP_016878583.1:p.Asp304Asn", "hgvsWellDefined": "XP_016878583.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS573910" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023095.2:c.910G>A" ], "proteinEffect": { "hgvs": "XP_016878584.1:p.Asp304Asn", "hgvsWellDefined": "XP_016878584.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS573911" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023096.2:c.910G>A" ], "proteinEffect": { "hgvs": "XP_016878585.1:p.Asp304Asn", "hgvsWellDefined": "XP_016878585.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS573912" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023097.2:c.910G>A" ], "proteinEffect": { "hgvs": "XP_016878586.1:p.Asp304Asn", "hgvsWellDefined": "XP_016878586.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS573913" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XM_017023100.2:c.910G>A" ], "proteinEffect": { "hgvs": "XP_016878589.1:p.Asp304Asn", "hgvsWellDefined": "XP_016878589.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS573916" }, { "coordinates": [ { "allele": "A", "end": 953, "referenceAllele": "G", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "XR_933260.3:n.953G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610401" }, { "@id": "http://reg.genome.network/allele/PA645501451", "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_015272.5:c.910G>A" ], "proteinEffect": { "hgvs": "NP_056087.2:p.Asp304Asn", "hgvsWellDefined": "NP_056087.2:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS668699", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647211.2:c.910G>A" }, "RefSeq": { "hgvs": "NM_015272.5:c.910G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493946.1:p.Asp304Asn" }, "RefSeq": { "hgvs": "NP_056087.2:p.Asp304Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2825661630", "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001127897.4:c.910G>A" ], "proteinEffect": { "hgvs": "NP_001121369.1:p.Asp304Asn", "hgvsWellDefined": "NP_001121369.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS676952" }, { "@id": "http://reg.genome.network/allele/PA2827321077", "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001330538.2:c.910G>A" ], "proteinEffect": { "hgvs": "NP_001317467.1:p.Asp304Asn", "hgvsWellDefined": "NP_001317467.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS686996" }, { "@id": "http://reg.genome.network/allele/PA2826934028", "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN029168", "geneNCBI_id": 23322, "geneSymbol": "RPGRIP1L", "hgvs": [ "NM_001308334.3:c.910G>A" ], "proteinEffect": { "hgvs": "NP_001295263.1:p.Asp304Asn", "hgvsWellDefined": "NP_001295263.1:p.Asp304Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS717273" } ], "type": "nucleotide" }