{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1312059", "communityStandardTitle": [ "NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431564[alleleid]", "alleleId": 431564, "preferredName": "NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438073", "RCV": [ "RCV000504865", "RCV001053730", "RCV001275649", "RCV001783005", "RCV003449433", "RCV003449434", "RCV003449435" ], "variationId": 438073 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-197396584-A-T", "id": "1-197396584-A-T", "variant": "1:197396584 A / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197396584A>T?assembly=hg19", "id": "chr1:g.197396584A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.197427454A>T?assembly=hg38", "id": "chr1:g.197427454A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/145282040", "rs": 145282040 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197396584-A-T?dataset=gnomad_r2_1", "id": "1-197396584-A-T", "variant": "1:197396584 A / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197427454-A-T?dataset=gnomad_r3", "id": "1-197427454-A-T", "variant": "1:197427454 A / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-197427454-A-T?dataset=gnomad_r4", "id": "1-197427454-A-T", "variant": "1:197427454 A / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 197427454, "referenceAllele": "A", "start": 197427453 } ], "hgvs": [ "NC_000001.11:g.197427454A>T", "CM000663.2:g.197427454A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 197396584, "referenceAllele": "A", "start": 197396583 } ], "hgvs": [ "NC_000001.10:g.197396584A>T", "CM000663.1:g.197396584A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 195663207, "referenceAllele": "A", "start": 195663206 } ], "hgvs": [ "NC_000001.9:g.195663207A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 164177, "referenceAllele": "A", "start": 164176 } ], "hgvs": [ "NG_008483.1:g.164177A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001118" }, { "coordinates": [ { "allele": "T", "end": 230993, "referenceAllele": "A", "start": 230992 } ], "hgvs": [ "NG_008483.2:g.230993A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2290, "referenceAllele": "A", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.8:c.2129A>T" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Glu710Val", "hgvsWellDefined": "ENSP00000356370.3:p.Glu710Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS750000", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.2129A>T" }, "RefSeq": { "hgvs": "NM_201253.3:c.2129A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Glu710Val" }, "RefSeq": { "hgvs": "NP_957705.1:p.Glu710Val" } } } }, { "coordinates": [ { "allele": "T", "end": 2264, "referenceAllele": "A", "start": 2263 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000638467.1:c.2129A>T" ], "proteinEffect": { "hgvs": "ENSP00000491102.1:p.Glu710Val", "hgvsWellDefined": "ENSP00000491102.1:p.Glu710Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS764542" }, { "coordinates": [ { "allele": "T", "end": 1110, "referenceAllele": "A", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000681519.1:c.1010A>T" ], "proteinEffect": { "hgvs": "ENSP00000505267.1:p.Glu337Val", "hgvsWellDefined": "ENSP00000505267.1:p.Glu337Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS781125" }, { "coordinates": [ { "allele": "T", "end": 1130, "referenceAllele": "A", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367397.1:c.272A>T" ], "proteinEffect": { "hgvs": "ENSP00000356367.1:p.Glu91Val", "hgvsWellDefined": "ENSP00000356367.1:p.Glu91Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS266364" }, { "coordinates": [ { "allele": "T", "end": 1793, "referenceAllele": "A", "start": 1792 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367399.6:c.1793A>T" ], "proteinEffect": { "hgvs": "ENSP00000356369.2:p.Glu598Val", "hgvsWellDefined": "ENSP00000356369.2:p.Glu598Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS266365" }, { "coordinates": [ { "allele": "T", "end": 2264, "referenceAllele": "A", "start": 2263 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000367400.7:c.2129A>T" ], "proteinEffect": { "hgvs": "ENSP00000356370.3:p.Glu710Val", "hgvsWellDefined": "ENSP00000356370.3:p.Glu710Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS266366" }, { "coordinates": [ { "allele": "T", "end": 30, "referenceAllele": "A", "start": 29 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000480086.2:n.30A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS320322" }, { "coordinates": [ { "allele": "T", "end": 2264, "referenceAllele": "A", "start": 2263 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000484075.5:c.2129A>T" ], "proteinEffect": { "hgvs": "ENSP00000433932.1:p.Glu710Val", "hgvsWellDefined": "ENSP00000433932.1:p.Glu710Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS323413" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "A", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000535699.5:c.1922A>T" ], "proteinEffect": { "hgvs": "ENSP00000438786.1:p.Glu641Val", "hgvsWellDefined": "ENSP00000438786.1:p.Glu641Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS359878" }, { "coordinates": [ { "allele": "T", "end": 2337, "endIntronDirection": "+", "endIntronOffset": 5498, "referenceAllele": "A", "start": 2337, "startIntronDirection": "+", "startIntronOffset": 5497 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "ENST00000538660.5:c.2128+5498A>T" ], "proteinEffect": { "hgvs": "ENSP00000438091.1:n.2128+5498A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS361440" }, { "@id": "http://reg.genome.network/allele/PA2826192153", "coordinates": [ { "allele": "T", "end": 2002, "referenceAllele": "A", "start": 2001 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.1:c.1793A>T" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Glu598Val", "hgvsWellDefined": "NP_001180569.1:p.Glu598Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS016470" }, { "@id": "http://reg.genome.network/allele/PA2826446686", "coordinates": [ { "allele": "T", "end": 2261, "referenceAllele": "A", "start": 2260 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.1:c.1922A>T" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Glu641Val", "hgvsWellDefined": "NP_001244894.1:p.Glu641Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS019649" }, { "coordinates": [ { "allele": "T", "end": 2337, "endIntronDirection": "+", "endIntronOffset": 5498, "referenceAllele": "A", "start": 2337, "startIntronDirection": "+", "startIntronOffset": 5497 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.1:c.2128+5498A>T" ], "proteinEffect": { "hgvs": "NP_001244895.1:n.2128+5498A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS019650" }, { "@id": "http://reg.genome.network/allele/PA110218", "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "A", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.2:c.2129A>T" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Glu710Val", "hgvsWellDefined": "NP_957705.1:p.Glu710Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS044977" }, { "coordinates": [ { "allele": "T", "end": 2130, "referenceAllele": "A", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.1:n.2130A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052002" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "A", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.1:n.2338A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052003" }, { "coordinates": [ { "allele": "T", "end": 2263, "referenceAllele": "A", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.1:c.2129A>T" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Glu710Val", "hgvsWellDefined": "XP_011507667.1:p.Glu710Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS076633" }, { "coordinates": [ { "allele": "T", "end": 2263, "referenceAllele": "A", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509366.1:c.2129A>T" ], "proteinEffect": { "hgvs": "XP_011507668.1:p.Glu710Val", "hgvsWellDefined": "XP_011507668.1:p.Glu710Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS076634" }, { "coordinates": [ { "allele": "T", "end": 2263, "referenceAllele": "A", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509367.1:c.2129A>T" ], "proteinEffect": { "hgvs": "XP_011507669.1:p.Glu710Val", "hgvsWellDefined": "XP_011507669.1:p.Glu710Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS076635" }, { "coordinates": [ { "allele": "T", "end": 1712, "referenceAllele": "A", "start": 1711 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509368.1:c.1547A>T" ], "proteinEffect": { "hgvs": "XP_011507670.1:p.Glu516Val", "hgvsWellDefined": "XP_011507670.1:p.Glu516Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS076636" }, { "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "A", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.1:c.572A>T" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Glu191Val", "hgvsWellDefined": "XP_011507671.1:p.Glu191Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS076637" }, { "coordinates": [ { "allele": "T", "end": 2263, "referenceAllele": "A", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509365.2:c.2129A>T" ], "proteinEffect": { "hgvs": "XP_011507667.1:p.Glu710Val", "hgvsWellDefined": "XP_011507667.1:p.Glu710Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS541251" }, { "coordinates": [ { "allele": "T", "end": 1051, "referenceAllele": "A", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_011509369.2:c.572A>T" ], "proteinEffect": { "hgvs": "XP_011507671.1:p.Glu191Val", "hgvsWellDefined": "XP_011507671.1:p.Glu191Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS541252" }, { "coordinates": [ { "allele": "T", "end": 2030, "referenceAllele": "A", "start": 2029 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000851.1:c.1286A>T" ], "proteinEffect": { "hgvs": "XP_016856340.1:p.Glu429Val", "hgvsWellDefined": "XP_016856340.1:p.Glu429Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557131" }, { "coordinates": [ { "allele": "T", "end": 2263, "referenceAllele": "A", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "XM_017000852.1:c.2129A>T" ], "proteinEffect": { "hgvs": "XP_016856341.1:p.Glu710Val", "hgvsWellDefined": "XP_016856341.1:p.Glu710Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557132" }, { "@id": "http://reg.genome.network/allele/PA110218", "coordinates": [ { "allele": "T", "end": 2290, "referenceAllele": "A", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_201253.3:c.2129A>T" ], "proteinEffect": { "hgvs": "NP_957705.1:p.Glu710Val", "hgvsWellDefined": "NP_957705.1:p.Glu710Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS673211", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367400.8:c.2129A>T" }, "RefSeq": { "hgvs": "NM_201253.3:c.2129A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356370.3:p.Glu710Val" }, "RefSeq": { "hgvs": "NP_957705.1:p.Glu710Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2826192153", "coordinates": [ { "allele": "T", "end": 1954, "referenceAllele": "A", "start": 1953 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001193640.2:c.1793A>T" ], "proteinEffect": { "hgvs": "NP_001180569.1:p.Glu598Val", "hgvsWellDefined": "NP_001180569.1:p.Glu598Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS679252" }, { "@id": "http://reg.genome.network/allele/PA2826446686", "coordinates": [ { "allele": "T", "end": 2219, "referenceAllele": "A", "start": 2218 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257965.2:c.1922A>T" ], "proteinEffect": { "hgvs": "NP_001244894.1:p.Glu641Val", "hgvsWellDefined": "NP_001244894.1:p.Glu641Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS680747" }, { "coordinates": [ { "allele": "T", "end": 2082, "referenceAllele": "A", "start": 2081 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047563.2:n.2082A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702513" }, { "coordinates": [ { "allele": "T", "end": 2290, "referenceAllele": "A", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NR_047564.2:n.2290A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702514" }, { "coordinates": [ { "allele": "T", "end": 2289, "endIntronDirection": "+", "endIntronOffset": 5498, "referenceAllele": "A", "start": 2289, "startIntronDirection": "+", "startIntronOffset": 5497 } ], "gene": "http://reg.genome.network/gene/GN002343", "geneNCBI_id": 23418, "geneSymbol": "CRB1", "hgvs": [ "NM_001257966.2:c.2128+5498A>T" ], "proteinEffect": { "hgvs": "NP_001244895.1:n.2128+5498A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS714892" } ], "type": "nucleotide" }