{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1218066318", "communityStandardTitle": [ "NM_201253.3(CRB1):c.2501G= (p.Gly834=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307972", "rs": 1085307972 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 197427826, "referenceAllele": "G", "start": 197427825 } ], "hgvs": [ "NC_000001.11:g.197427826G=", "CM000663.2:g.197427826G=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 197396956, "referenceAllele": "G", "start": 197396955 } ], "hgvs": [ "NC_000001.10:g.197396956G=", "CM000663.1:g.197396956G=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 195663579, "referenceAllele": "G", "start": 195663578 } ], "hgvs": [ "NC_000001.9:g.195663579G=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "G", "end": 164549, "referenceAllele": "G", "start": 164548 } ], "hgvs": [ "NG_008483.1:g.164549G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001118" }, { "coordinates": [ { "allele": "G", "end": 231365, "referenceAllele": "G", "start": 231364 } ], "hgvs": [ "NG_008483.2:g.231365G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS616106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2662, "referenceAllele": "G", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.8:c.2501G=" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Gly834=" }, "referenceSequence": "http://reg.genome.network/refseq/RS750000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.2501G=" }, "RefSeq": { "hgvs": "NM_201253.3:c.2501G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Gly834=" }, "RefSeq": { "hgvs": "NP_957705.1:p.Gly834=" } } } }, { "coordinates": [ { "allele": "G", "end": 2636, "referenceAllele": "G", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000638467.1:c.2501G=" ], "proteinEffect": { "hgvs": "ENSP00000491102.1:p.Gly834=" }, "referenceSequence": "http://reg.genome.network/refseq/RS764542" }, { "coordinates": [ { "allele": "G", "end": 1482, "referenceAllele": "G", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000681519.1:c.1382G=" ], "proteinEffect": { "hgvs": "ENSP00000505267.1:p.Gly461=" }, "referenceSequence": "http://reg.genome.network/refseq/RS781125" }, { "coordinates": [ { "allele": "G", "end": 1502, "referenceAllele": "G", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367397.1:c.644G=" ], "proteinEffect": { "hgvs": "ENSP00000356367.1:p.Gly215=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266364" }, { "coordinates": [ { "allele": "G", "end": 2165, "referenceAllele": "G", "start": 2164 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367399.6:c.2165G=" ], "proteinEffect": { "hgvs": "ENSP00000356369.2:p.Gly722=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266365" }, { "coordinates": [ { "allele": "G", "end": 2636, "referenceAllele": "G", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.7:c.2501G=" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Gly834=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266366" }, { "coordinates": [ { "allele": "G", "end": 402, "referenceAllele": "G", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000480086.2:n.402G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS320322" }, { "coordinates": [ { "allele": "G", "end": 2636, "referenceAllele": "G", "start": 2635 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000484075.5:c.2501G=" ], "proteinEffect": { "hgvs": "ENSP00000433932.1:p.Gly834=" }, "referenceSequence": "http://reg.genome.network/refseq/RS323413" }, { "coordinates": [ { "allele": "G", "end": 2710, "referenceAllele": "G", "start": 2709 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000535699.5:c.2294G=" ], "proteinEffect": { "hgvs": "ENSP00000438786.1:p.Gly765=" }, "referenceSequence": "http://reg.genome.network/refseq/RS359878" }, { "coordinates": [ { "allele": "G", "end": 2337, "endIntronDirection": "+", "endIntronOffset": 5870, "referenceAllele": "G", "start": 2337, "startIntronDirection": "+", "startIntronOffset": 5869 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000538660.5:c.2128+5870G=" ], "proteinEffect": { "hgvs": "ENSP00000438091.1:n.2128+5870G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS361440" }, { "coordinates": [ { "allele": "G", "end": 2374, "referenceAllele": "G", "start": 2373 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.1:c.2165G=" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Gly722=" }, "referenceSequence": "http://reg.genome.network/refseq/RS016470" }, { "coordinates": [ { "allele": "G", "end": 2633, "referenceAllele": "G", "start": 2632 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.1:c.2294G=" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Gly765=" }, "referenceSequence": "http://reg.genome.network/refseq/RS019649" }, { "coordinates": [ { "allele": "G", "end": 2337, "endIntronDirection": "+", "endIntronOffset": 5870, "referenceAllele": "G", "start": 2337, "startIntronDirection": "+", "startIntronOffset": 5869 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.1:c.2128+5870G=" ], "proteinEffect": { "hgvs": "NP_001244895.1:n.2128+5870G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS019650" }, { "@id": "http://reg.genome.network/allele/PA3064933999", "coordinates": [ { "allele": "G", "end": 2710, "referenceAllele": "G", "start": 2709 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.2:c.2501G=" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Gly834=" }, "referenceSequence": "http://reg.genome.network/refseq/RS044977" }, { "coordinates": [ { "allele": "G", "end": 2502, "referenceAllele": "G", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.1:n.2502G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS052002" }, { "coordinates": [ { "allele": "G", "end": 2710, "referenceAllele": "G", "start": 2709 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.1:n.2710G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS052003" }, { "coordinates": [ { "allele": "G", "end": 2635, "referenceAllele": "G", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.1:c.2501G=" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Gly834=" }, "referenceSequence": "http://reg.genome.network/refseq/RS076633" }, { "coordinates": [ { "allele": "G", "end": 2635, "referenceAllele": "G", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509366.1:c.2501G=" ], "proteinEffect": { "hgvs": "XP_011507668.1:p.Gly834=" }, "referenceSequence": "http://reg.genome.network/refseq/RS076634" }, { "coordinates": [ { "allele": "G", "end": 2635, "referenceAllele": "G", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509367.1:c.2501G=" ], "proteinEffect": { "hgvs": "XP_011507669.1:p.Gly834=" }, "referenceSequence": "http://reg.genome.network/refseq/RS076635" }, { "coordinates": [ { "allele": "G", "end": 2084, "referenceAllele": "G", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509368.1:c.1919G=" ], "proteinEffect": { "hgvs": "XP_011507670.1:p.Gly640=" }, "referenceSequence": "http://reg.genome.network/refseq/RS076636" }, { "coordinates": [ { "allele": "G", "end": 1617, "referenceAllele": "G", "start": 1616 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.1:c.944G=" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Gly315=" }, "referenceSequence": "http://reg.genome.network/refseq/RS076637" }, { "coordinates": [ { "allele": "G", "end": 2635, "referenceAllele": "G", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.2:c.2501G=" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Gly834=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541251" }, { "coordinates": [ { "allele": "G", "end": 1423, "referenceAllele": "G", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.2:c.944G=" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Gly315=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541252" }, { "coordinates": [ { "allele": "G", "end": 2402, "referenceAllele": "G", "start": 2401 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000851.1:c.1658G=" ], "proteinEffect": { "hgvs": "XP_016856340.1:p.Gly553=" }, "referenceSequence": "http://reg.genome.network/refseq/RS557131" }, { "coordinates": [ { "allele": "G", "end": 2635, "referenceAllele": "G", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000852.1:c.2501G=" ], "proteinEffect": { "hgvs": "XP_016856341.1:p.Gly834=" }, "referenceSequence": "http://reg.genome.network/refseq/RS557132" }, { "@id": "http://reg.genome.network/allele/PA3064933999", "coordinates": [ { "allele": "G", "end": 2662, "referenceAllele": "G", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.3:c.2501G=" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Gly834=" }, "referenceSequence": "http://reg.genome.network/refseq/RS673211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.2501G=" }, "RefSeq": { "hgvs": "NM_201253.3:c.2501G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Gly834=" }, "RefSeq": { "hgvs": "NP_957705.1:p.Gly834=" } } } }, { "coordinates": [ { "allele": "G", "end": 2326, "referenceAllele": "G", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.2:c.2165G=" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Gly722=" }, "referenceSequence": "http://reg.genome.network/refseq/RS679252" }, { "coordinates": [ { "allele": "G", "end": 2591, "referenceAllele": "G", "start": 2590 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.2:c.2294G=" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Gly765=" }, "referenceSequence": "http://reg.genome.network/refseq/RS680747" }, { "coordinates": [ { "allele": "G", "end": 2454, "referenceAllele": "G", "start": 2453 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.2:n.2454G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS702513" }, { "coordinates": [ { "allele": "G", "end": 2662, "referenceAllele": "G", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.2:n.2662G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS702514" }, { "coordinates": [ { "allele": "G", "end": 2289, "endIntronDirection": "+", "endIntronOffset": 5870, "referenceAllele": "G", "start": 2289, "startIntronDirection": "+", "startIntronOffset": 5869 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.2:c.2128+5870G=" ], "proteinEffect": { "hgvs": "NP_001244895.1:n.2128+5870G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS714892" } ], "type": "nucleotide" }