{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA233677", "communityStandardTitle": [ "NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1493078", "active": true, "id": "COSM1493078" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177275[alleleid]", "alleleId": 177275, "preferredName": "NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/166836", "RCV": [ "RCV000152978", "RCV000723757", "RCV001058824", "RCV001275036", "RCV004532719" ], "variationId": 166836 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-88512304-A-T", "id": "12-88512304-A-T", "variant": "12:88512304 A / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88512304A>T?assembly=hg19", "id": "chr12:g.88512304A>T" }, { "@id": "http://myvariant.info/v1/variant/chr12:g.88512304_88512305delinsTT?assembly=hg19", "id": "chr12:g.88512304_88512305delinsTT" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.88118527A>T?assembly=hg38", "id": "chr12:g.88118527A>T" }, { "@id": "http://myvariant.info/v1/variant/chr12:g.88118527_88118528delinsTT?assembly=hg38", "id": "chr12:g.88118527_88118528delinsTT" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/727503854", "rs": 727503854 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88512304-A-T?dataset=gnomad_r2_1", "id": "12-88512304-A-T", "variant": "12:88512304 A / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88118527-A-T?dataset=gnomad_r3", "id": "12-88118527-A-T", "variant": "12:88118527 A / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-88118527-A-T?dataset=gnomad_r4", "id": "12-88118527-A-T", "variant": "12:88118527 A / T" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 88118527, "referenceAllele": "A", "start": 88118526 } ], "hgvs": [ "NC_000012.12:g.88118527A>T", "CM000674.2:g.88118527A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 88512304, "referenceAllele": "A", "start": 88512303 } ], "hgvs": [ "NC_000012.11:g.88512304A>T", "CM000674.1:g.88512304A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 87036435, "referenceAllele": "A", "start": 87036434 } ], "hgvs": [ "NC_000012.10:g.87036435A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 28690, "referenceAllele": "T", "start": 28689 } ], "hgvs": [ "NG_008417.1:g.28690T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001089" }, { "coordinates": [ { "allele": "A", "end": 28690, "referenceAllele": "T", "start": 28689 } ], "hgvs": [ "NG_008417.2:g.28690T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706085" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "T", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.12:c.1667T>A" ], "proteinEffect": { "hgvs": "ENSP00000308021.8:p.Ile556Asn", "hgvsWellDefined": "ENSP00000308021.8:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS745510" }, { "coordinates": [ { "allele": "A", "end": 1840, "referenceAllele": "T", "start": 1839 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000397838.8:c.1613T>A" ], "proteinEffect": { "hgvs": "ENSP00000380938.5:p.Ile538Asn", "hgvsWellDefined": "ENSP00000380938.5:p.Ile538Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS753693" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "T", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000547926.7:c.1667T>A" ], "proteinEffect": { "hgvs": "ENSP00000448573.3:p.Ile556Asn", "hgvsWellDefined": "ENSP00000448573.3:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS759888" }, { "coordinates": [ { "allele": "A", "end": 1883, "referenceAllele": "T", "start": 1882 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552810.6:c.1667T>A" ], "proteinEffect": { "hgvs": "ENSP00000448012.1:p.Ile556Asn", "hgvsWellDefined": "ENSP00000448012.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS760039", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.1667T>A" }, "RefSeq": { "hgvs": "NM_025114.4:c.1667T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Ile556Asn" }, "RefSeq": { "hgvs": "NP_079390.3:p.Ile556Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 3336, "referenceAllele": "T", "start": 3335 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000671822.2:n.3336T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773178" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "T", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000672414.2:c.1667T>A" ], "proteinEffect": { "hgvs": "ENSP00000500729.1:p.Ile556Asn", "hgvsWellDefined": "ENSP00000500729.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS773378" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "T", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000673058.2:c.1667T>A" ], "proteinEffect": { "hgvs": "ENSP00000500665.2:p.Ile556Asn", "hgvsWellDefined": "ENSP00000500665.2:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS773585" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "T", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000674971.1:c.1667T>A" ], "proteinEffect": { "hgvs": "ENSP00000502194.1:p.Ile556Asn", "hgvsWellDefined": "ENSP00000502194.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS774853" }, { "coordinates": [ { "allele": "A", "end": 1873, "referenceAllele": "T", "start": 1872 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675230.1:c.1646T>A" ], "proteinEffect": { "hgvs": "ENSP00000502503.1:p.Ile549Asn", "hgvsWellDefined": "ENSP00000502503.1:p.Ile549Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS775078" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "T", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675408.1:c.1667T>A" ], "proteinEffect": { "hgvs": "ENSP00000502298.1:p.Ile556Asn", "hgvsWellDefined": "ENSP00000502298.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS775233" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "T", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675476.1:c.1667T>A" ], "proteinEffect": { "hgvs": "ENSP00000502161.1:p.Ile556Asn", "hgvsWellDefined": "ENSP00000502161.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS775293" }, { "coordinates": [ { "allele": "A", "end": 2024, "referenceAllele": "T", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675559.1:c.*213T>A" ], "proteinEffect": { "hgvs": "ENSP00000502163.1:n.*213T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775359" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "T", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675628.1:n.1894T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775421" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "T", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675794.1:c.1667T>A" ], "proteinEffect": { "hgvs": "ENSP00000502841.1:p.Ile556Asn", "hgvsWellDefined": "ENSP00000502841.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS775565" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "T", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000675833.1:c.1667T>A" ], "proteinEffect": { "hgvs": "ENSP00000502559.1:p.Ile556Asn", "hgvsWellDefined": "ENSP00000502559.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS775601" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "T", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676074.1:c.1667T>A" ], "proteinEffect": { "hgvs": "ENSP00000502079.1:p.Ile556Asn", "hgvsWellDefined": "ENSP00000502079.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS775809" }, { "coordinates": [ { "allele": "A", "end": 3332, "referenceAllele": "T", "start": 3331 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676351.1:c.*2622T>A" ], "proteinEffect": { "hgvs": "ENSP00000502046.1:n.*2622T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776043" }, { "coordinates": [ { "allele": "A", "end": 3730, "referenceAllele": "T", "start": 3729 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676363.1:n.3730T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS776054" }, { "coordinates": [ { "allele": "A", "end": 1890, "referenceAllele": "T", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676418.1:c.*124T>A" ], "proteinEffect": { "hgvs": "ENSP00000502371.1:n.*124T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776101" }, { "coordinates": [ { "allele": "A", "end": 1894, "referenceAllele": "T", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000676448.1:c.1667T>A" ], "proteinEffect": { "hgvs": "ENSP00000501987.1:p.Ile556Asn", "hgvsWellDefined": "ENSP00000501987.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS776129" }, { "coordinates": [ { "allele": "A", "end": 1673, "referenceAllele": "T", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000309041.11:c.1673T>A" ], "proteinEffect": { "hgvs": "ENSP00000308021.7:p.Ile558Asn", "hgvsWellDefined": "ENSP00000308021.7:p.Ile558Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS256142" }, { "coordinates": [ { "allele": "A", "end": 1673, "referenceAllele": "T", "start": 1672 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000397838.7:c.1673T>A" ], "proteinEffect": { "hgvs": "ENSP00000380938.4:p.Ile558Asn", "hgvsWellDefined": "ENSP00000380938.4:p.Ile558Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS278005" }, { "coordinates": [ { "allele": "A", "end": 1565, "referenceAllele": "T", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000547926.6:c.1565T>A" ], "proteinEffect": { "hgvs": "ENSP00000448573.2:p.Ile522Asn", "hgvsWellDefined": "ENSP00000448573.2:p.Ile522Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS366568" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000552810.5:c.1667T>A" ], "proteinEffect": { "hgvs": "ENSP00000448012.1:p.Ile556Asn", "hgvsWellDefined": "ENSP00000448012.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS369457" }, { "coordinates": [ { "allele": "A", "end": 833, "referenceAllele": "T", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "ENST00000604024.5:c.833T>A" ], "proteinEffect": { "hgvs": "ENSP00000473863.1:p.Ile278Asn", "hgvsWellDefined": "ENSP00000473863.1:p.Ile278Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS398866" }, { "@id": "http://reg.genome.network/allele/PA233678", "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.3:c.1667T>A" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Ile556Asn", "hgvsWellDefined": "NP_079390.3:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS038208" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538756.1:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537058.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537058.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105710" }, { "coordinates": [ { "allele": "A", "end": 1781, "referenceAllele": "T", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.1:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537059.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105711" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.1:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537060.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105712" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.1:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537061.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105713" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538760.1:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537062.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537062.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105714" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.1:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537063.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105715" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.1:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537064.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105716" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.1:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537065.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105717" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.1:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537066.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105718" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.1:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537067.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105719" }, { "coordinates": [ { "allele": "A", "end": 238, "referenceAllele": "T", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538766.1:c.128T>A" ], "proteinEffect": { "hgvs": "XP_011537068.1:p.Ile43Asn", "hgvsWellDefined": "XP_011537068.1:p.Ile43Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS105720" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538756.3:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537058.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537058.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553398" }, { "coordinates": [ { "allele": "A", "end": 1819, "referenceAllele": "T", "start": 1818 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538757.3:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537059.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537059.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553399" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538758.3:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537060.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537060.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553400" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538759.2:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537061.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537061.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553401" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538760.2:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537062.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537062.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553402" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538761.2:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537063.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537063.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553403" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538762.3:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537064.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537064.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553404" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538763.3:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537065.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537065.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553405" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538764.3:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537066.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537066.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553406" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538765.3:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_011537067.1:p.Ile556Asn", "hgvsWellDefined": "XP_011537067.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553407" }, { "coordinates": [ { "allele": "A", "end": 238, "referenceAllele": "T", "start": 237 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_011538766.3:c.128T>A" ], "proteinEffect": { "hgvs": "XP_011537068.1:p.Ile43Asn", "hgvsWellDefined": "XP_011537068.1:p.Ile43Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS553408" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019980.2:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_016875469.1:p.Ile556Asn", "hgvsWellDefined": "XP_016875469.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS571554" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019981.2:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_016875470.1:p.Ile556Asn", "hgvsWellDefined": "XP_016875470.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS571555" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019982.1:c.1667T>A" ], "proteinEffect": { "hgvs": "XP_016875471.1:p.Ile556Asn", "hgvsWellDefined": "XP_016875471.1:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS571556" }, { "coordinates": [ { "allele": "A", "end": 1990, "referenceAllele": "T", "start": 1989 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019983.2:c.1646T>A" ], "proteinEffect": { "hgvs": "XP_016875472.1:p.Ile549Asn", "hgvsWellDefined": "XP_016875472.1:p.Ile549Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS571557" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748869.1:n.2011T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596808" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748870.2:n.2011T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596809" }, { "@id": "http://reg.genome.network/allele/PA233678", "coordinates": [ { "allele": "A", "end": 1883, "referenceAllele": "T", "start": 1882 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.4:c.1667T>A" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Ile556Asn", "hgvsWellDefined": "NP_079390.3:p.Ile556Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS698816", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.1667T>A" }, "RefSeq": { "hgvs": "NM_025114.4:c.1667T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Ile556Asn" }, "RefSeq": { "hgvs": "NP_079390.3:p.Ile556Asn" } } } } ], "type": "nucleotide" }