{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA227962", "communityStandardTitle": [ "NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16374[alleleid]", "alleleId": 16374, "preferredName": "NM_025114.4(CEP290):c.21G>T (p.Trp7Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1335", "RCV": [ "RCV000001398", "RCV000086283", "RCV000505111", "RCV001328051", "RCV001851540" ], "variationId": 1335 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88535064C>A?assembly=hg19", "id": "chr12:g.88535064C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88141287C>A?assembly=hg38", "id": "chr12:g.88141287C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/62635288", "rs": 62635288 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88141287-C-A?dataset=gnomad_r4", "id": "12-88141287-C-A", "variant": "12:88141287 C / A" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 88141287, "referenceAllele": "C", "start": 88141286 } ], "hgvs": [ "NC_000012.12:g.88141287C>A", "CM000674.2:g.88141287C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 88535064, "referenceAllele": "C", "start": 88535063 } ], "hgvs": [ "NC_000012.11:g.88535064C>A", "CM000674.1:g.88535064C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 87059195, "referenceAllele": "C", "start": 87059194 } ], "hgvs": [ "NC_000012.10:g.87059195C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 5930, "referenceAllele": "G", "start": 5929 } ], "hgvs": [ "NG_008417.1:g.5930G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001089" }, { "coordinates": [ { "allele": "A", "end": 3992, "referenceAllele": "C", "start": 3991 } ], "hgvs": [ "NG_021187.1:g.3992C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003466" }, { "coordinates": [ { "allele": "T", "end": 5930, "referenceAllele": "G", "start": 5929 } ], "hgvs": [ "NG_008417.2:g.5930G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706085" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.12:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000308021.8:p.Trp7Cys", "hgvsWellDefined": "ENSP00000308021.8:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS745510" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000397838.8:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000380938.5:p.Trp7Cys", "hgvsWellDefined": "ENSP00000380938.5:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753693" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000547926.7:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000448573.3:p.Trp7Cys", "hgvsWellDefined": "ENSP00000448573.3:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS759888" }, { "coordinates": [ { "allele": "T", "end": 218, "referenceAllele": "G", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000550962.6:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000447623.2:p.Trp7Cys", "hgvsWellDefined": "ENSP00000447623.2:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS759985" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552770.3:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000447527.3:p.Trp7Cys", "hgvsWellDefined": "ENSP00000447527.3:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS760038" }, { "coordinates": [ { "allele": "T", "end": 237, "referenceAllele": "G", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552810.6:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000448012.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000448012.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS760039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.21G>T" }, "RefSeq": { "hgvs": "NM_025114.4:c.21G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Trp7Cys" }, "RefSeq": { "hgvs": "NP_079390.3:p.Trp7Cys" } } } }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000671822.2:n.248G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS773178" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000672414.2:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000500729.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000500729.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS773378" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000673058.2:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000500665.2:p.Trp7Cys", "hgvsWellDefined": "ENSP00000500665.2:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS773585" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000674971.1:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000502194.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000502194.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS774853" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675230.1:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000502503.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000502503.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS775078" }, { "coordinates": [ { "allele": "T", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675361.1:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000502678.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000502678.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS775191" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675408.1:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000502298.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000502298.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS775233" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675476.1:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000502161.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000502161.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS775293" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675559.1:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000502163.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000502163.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS775359" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675628.1:n.248G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775421" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675794.1:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000502841.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000502841.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS775565" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675833.1:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000502559.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000502559.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS775601" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676074.1:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000502079.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000502079.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS775809" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676331.1:n.248G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776026" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676351.1:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000502046.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000502046.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS776043" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676418.1:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000502371.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000502371.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS776101" }, { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676448.1:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000501987.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000501987.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS776129" }, { "coordinates": [ { "allele": "T", "end": 21, "referenceAllele": "G", "start": 20 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.11:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000308021.7:p.Trp7Cys", "hgvsWellDefined": "ENSP00000308021.7:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS256142" }, { "coordinates": [ { "allele": "T", "end": 21, "referenceAllele": "G", "start": 20 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000397838.7:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000380938.4:p.Trp7Cys", "hgvsWellDefined": "ENSP00000380938.4:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS278005" }, { "coordinates": [ { "allele": "T", "end": 226, "referenceAllele": "G", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000550962.5:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000447623.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000447623.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS368375" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552810.5:c.21G>T" ], "proteinEffect": { "hgvs": "ENSP00000448012.1:p.Trp7Cys", "hgvsWellDefined": "ENSP00000448012.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS369457" }, { "@id": "http://reg.genome.network/allele/PA093025", "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.3:c.21G>T" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Trp7Cys", "hgvsWellDefined": "NP_079390.3:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS038208" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538756.1:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537058.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537058.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105710" }, { "coordinates": [ { "allele": "T", "end": 135, "referenceAllele": "G", "start": 134 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.1:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537059.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105711" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.1:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537060.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105712" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.1:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537061.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105713" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538760.1:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537062.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537062.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105714" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.1:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537063.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105715" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.1:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537064.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105716" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.1:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537065.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105717" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.1:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537066.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105718" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.1:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537067.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS105719" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538756.3:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537058.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537058.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553398" }, { "coordinates": [ { "allele": "T", "end": 173, "referenceAllele": "G", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.3:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537059.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553399" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.3:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537060.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553400" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.2:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537061.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553401" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538760.2:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537062.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537062.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553402" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.2:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537063.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553403" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.3:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537064.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553404" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.3:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537065.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553405" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.3:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537066.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553406" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.3:c.21G>T" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Trp7Cys", "hgvsWellDefined": "XP_011537067.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS553407" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019980.2:c.21G>T" ], "proteinEffect": { "hgvs": "XP_016875469.1:p.Trp7Cys", "hgvsWellDefined": "XP_016875469.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS571554" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019981.2:c.21G>T" ], "proteinEffect": { "hgvs": "XP_016875470.1:p.Trp7Cys", "hgvsWellDefined": "XP_016875470.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS571555" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019982.1:c.21G>T" ], "proteinEffect": { "hgvs": "XP_016875471.1:p.Trp7Cys", "hgvsWellDefined": "XP_016875471.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS571556" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019983.2:c.21G>T" ], "proteinEffect": { "hgvs": "XP_016875472.1:p.Trp7Cys", "hgvsWellDefined": "XP_016875472.1:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS571557" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748869.1:n.365G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596808" }, { "coordinates": [ { "allele": "T", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748870.2:n.365G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596809" }, { "@id": "http://reg.genome.network/allele/PA093025", "coordinates": [ { "allele": "T", "end": 237, "referenceAllele": "G", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.4:c.21G>T" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Trp7Cys", "hgvsWellDefined": "NP_079390.3:p.Trp7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS698816", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.21G>T" }, "RefSeq": { "hgvs": "NM_025114.4:c.21G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Trp7Cys" }, "RefSeq": { "hgvs": "NP_079390.3:p.Trp7Cys" } } } } ], "type": "nucleotide" }