{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1218065976", "communityStandardTitle": [ "NM_201253.3(CRB1):c.2227G= (p.Val743=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/863224862", "rs": 863224862 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 197427552, "referenceAllele": "G", "start": 197427551 } ], "hgvs": [ "NC_000001.11:g.197427552G=", "CM000663.2:g.197427552G=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 197396682, "referenceAllele": "G", "start": 197396681 } ], "hgvs": [ "NC_000001.10:g.197396682G=", "CM000663.1:g.197396682G=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 195663305, "referenceAllele": "G", "start": 195663304 } ], "hgvs": [ "NC_000001.9:g.195663305G=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "G", "end": 164275, "referenceAllele": "G", "start": 164274 } ], "hgvs": [ "NG_008483.1:g.164275G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001118" }, { "coordinates": [ { "allele": "G", "end": 231091, "referenceAllele": "G", "start": 231090 } ], "hgvs": [ "NG_008483.2:g.231091G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS616106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2388, "referenceAllele": "G", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.8:c.2227G=" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Val743=" }, "referenceSequence": "http://reg.genome.network/refseq/RS750000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.2227G=" }, "RefSeq": { "hgvs": "NM_201253.3:c.2227G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Val743=" }, "RefSeq": { "hgvs": "NP_957705.1:p.Val743=" } } } }, { "coordinates": [ { "allele": "G", "end": 2362, "referenceAllele": "G", "start": 2361 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000638467.1:c.2227G=" ], "proteinEffect": { "hgvs": "ENSP00000491102.1:p.Val743=" }, "referenceSequence": "http://reg.genome.network/refseq/RS764542" }, { "coordinates": [ { "allele": "G", "end": 1208, "referenceAllele": "G", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000681519.1:c.1108G=" ], "proteinEffect": { "hgvs": "ENSP00000505267.1:p.Val370=" }, "referenceSequence": "http://reg.genome.network/refseq/RS781125" }, { "coordinates": [ { "allele": "G", "end": 1228, "referenceAllele": "G", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367397.1:c.370G=" ], "proteinEffect": { "hgvs": "ENSP00000356367.1:p.Val124=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266364" }, { "coordinates": [ { "allele": "G", "end": 1891, "referenceAllele": "G", "start": 1890 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367399.6:c.1891G=" ], "proteinEffect": { "hgvs": "ENSP00000356369.2:p.Val631=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266365" }, { "coordinates": [ { "allele": "G", "end": 2362, "referenceAllele": "G", "start": 2361 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.7:c.2227G=" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Val743=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266366" }, { "coordinates": [ { "allele": "G", "end": 128, "referenceAllele": "G", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000480086.2:n.128G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS320322" }, { "coordinates": [ { "allele": "G", "end": 2362, "referenceAllele": "G", "start": 2361 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000484075.5:c.2227G=" ], "proteinEffect": { "hgvs": "ENSP00000433932.1:p.Val743=" }, "referenceSequence": "http://reg.genome.network/refseq/RS323413" }, { "coordinates": [ { "allele": "G", "end": 2436, "referenceAllele": "G", "start": 2435 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000535699.5:c.2020G=" ], "proteinEffect": { "hgvs": "ENSP00000438786.1:p.Val674=" }, "referenceSequence": "http://reg.genome.network/refseq/RS359878" }, { "coordinates": [ { "allele": "G", "end": 2337, "endIntronDirection": "+", "endIntronOffset": 5596, "referenceAllele": "G", "start": 2337, "startIntronDirection": "+", "startIntronOffset": 5595 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000538660.5:c.2128+5596G=" ], "proteinEffect": { "hgvs": "ENSP00000438091.1:n.2128+5596G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS361440" }, { "coordinates": [ { "allele": "G", "end": 2100, "referenceAllele": "G", "start": 2099 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.1:c.1891G=" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Val631=" }, "referenceSequence": "http://reg.genome.network/refseq/RS016470" }, { "coordinates": [ { "allele": "G", "end": 2359, "referenceAllele": "G", "start": 2358 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.1:c.2020G=" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Val674=" }, "referenceSequence": "http://reg.genome.network/refseq/RS019649" }, { "coordinates": [ { "allele": "G", "end": 2337, "endIntronDirection": "+", "endIntronOffset": 5596, "referenceAllele": "G", "start": 2337, "startIntronDirection": "+", "startIntronOffset": 5595 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.1:c.2128+5596G=" ], "proteinEffect": { "hgvs": "NP_001244895.1:n.2128+5596G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS019650" }, { "@id": "http://reg.genome.network/allele/PA3064793584", "coordinates": [ { "allele": "G", "end": 2436, "referenceAllele": "G", "start": 2435 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.2:c.2227G=" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Val743=" }, "referenceSequence": "http://reg.genome.network/refseq/RS044977" }, { "coordinates": [ { "allele": "G", "end": 2228, "referenceAllele": "G", "start": 2227 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.1:n.2228G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS052002" }, { "coordinates": [ { "allele": "G", "end": 2436, "referenceAllele": "G", "start": 2435 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.1:n.2436G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS052003" }, { "coordinates": [ { "allele": "G", "end": 2361, "referenceAllele": "G", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.1:c.2227G=" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Val743=" }, "referenceSequence": "http://reg.genome.network/refseq/RS076633" }, { "coordinates": [ { "allele": "G", "end": 2361, "referenceAllele": "G", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509366.1:c.2227G=" ], "proteinEffect": { "hgvs": "XP_011507668.1:p.Val743=" }, "referenceSequence": "http://reg.genome.network/refseq/RS076634" }, { "coordinates": [ { "allele": "G", "end": 2361, "referenceAllele": "G", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509367.1:c.2227G=" ], "proteinEffect": { "hgvs": "XP_011507669.1:p.Val743=" }, "referenceSequence": "http://reg.genome.network/refseq/RS076635" }, { "coordinates": [ { "allele": "G", "end": 1810, "referenceAllele": "G", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509368.1:c.1645G=" ], "proteinEffect": { "hgvs": "XP_011507670.1:p.Val549=" }, "referenceSequence": "http://reg.genome.network/refseq/RS076636" }, { "coordinates": [ { "allele": "G", "end": 1343, "referenceAllele": "G", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.1:c.670G=" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Val224=" }, "referenceSequence": "http://reg.genome.network/refseq/RS076637" }, { "coordinates": [ { "allele": "G", "end": 2361, "referenceAllele": "G", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.2:c.2227G=" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Val743=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541251" }, { "coordinates": [ { "allele": "G", "end": 1149, "referenceAllele": "G", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.2:c.670G=" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Val224=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541252" }, { "coordinates": [ { "allele": "G", "end": 2128, "referenceAllele": "G", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000851.1:c.1384G=" ], "proteinEffect": { "hgvs": "XP_016856340.1:p.Val462=" }, "referenceSequence": "http://reg.genome.network/refseq/RS557131" }, { "coordinates": [ { "allele": "G", "end": 2361, "referenceAllele": "G", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000852.1:c.2227G=" ], "proteinEffect": { "hgvs": "XP_016856341.1:p.Val743=" }, "referenceSequence": "http://reg.genome.network/refseq/RS557132" }, { "@id": "http://reg.genome.network/allele/PA3064793584", "coordinates": [ { "allele": "G", "end": 2388, "referenceAllele": "G", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.3:c.2227G=" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Val743=" }, "referenceSequence": "http://reg.genome.network/refseq/RS673211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.2227G=" }, "RefSeq": { "hgvs": "NM_201253.3:c.2227G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Val743=" }, "RefSeq": { "hgvs": "NP_957705.1:p.Val743=" } } } }, { "coordinates": [ { "allele": "G", "end": 2052, "referenceAllele": "G", "start": 2051 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.2:c.1891G=" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Val631=" }, "referenceSequence": "http://reg.genome.network/refseq/RS679252" }, { "coordinates": [ { "allele": "G", "end": 2317, "referenceAllele": "G", "start": 2316 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.2:c.2020G=" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Val674=" }, "referenceSequence": "http://reg.genome.network/refseq/RS680747" }, { "coordinates": [ { "allele": "G", "end": 2180, "referenceAllele": "G", "start": 2179 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.2:n.2180G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS702513" }, { "coordinates": [ { "allele": "G", "end": 2388, "referenceAllele": "G", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.2:n.2388G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS702514" }, { "coordinates": [ { "allele": "G", "end": 2289, "endIntronDirection": "+", "endIntronOffset": 5596, "referenceAllele": "G", "start": 2289, "startIntronDirection": "+", "startIntronOffset": 5595 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.2:c.2128+5596G=" ], "proteinEffect": { "hgvs": "NP_001244895.1:n.2128+5596G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS714892" } ], "type": "nucleotide" }