Linked Data
ClinVar Variation Id:
310584
dbSNP Id:
rs754398792
ExAC:
12:88443026 G / A
gnomAD v2:
12-88443026-G-A
gnomAD v3:
12-88049249-G-A
gnomAD v4:
12-88049249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88049249G>A , CM000674.2:g.88049249G>A | GRCh38 |
| NC_000012.11:g.88443026G>A , CM000674.1:g.88443026G>A | GRCh37 |
| NC_000012.10:g.86967157G>A | NCBI36 |
| NG_008417.1:g.97968C>T | |
| NG_008417.2:g.97968C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.7384C>T (CEP290) | ENSP00000308021.8:p.Pro2462Ser | |
| ENST00000356891.4:c.*827G>A (RLIG1) MANE Select | ENSP00000349358.3:n.*827G>A | |
| ENST00000547691.8:c.4344C>T (CEP290) | ||
| ENST00000552810.6:c.7375C>T (CEP290) MANE Select | ENSP00000448012.1:p.Pro2459Ser | |
| ENST00000671777.2:n.1154C>T (CEP290) | ||
| ENST00000672414.2:c.*5381C>T (CEP290) | ENSP00000500729.1:n.*5381C>T | |
| ENST00000672647.1:n.5735C>T (CEP290) | ||
| ENST00000673058.2:c.7252C>T (CEP290) | ENSP00000500665.2:p.Pro2418Ser | |
| ENST00000674712.1:n.902C>T (CEP290) | ||
| ENST00000674889.1:n.4328C>T (CEP290) | ||
| ENST00000674971.1:c.*332C>T (CEP290) | ENSP00000502194.1:n.*332C>T | |
| ENST00000675230.1:c.7354C>T (CEP290) | ENSP00000502503.1:p.Pro2452Ser | |
| ENST00000675408.1:c.7210C>T (CEP290) | ENSP00000502298.1:p.Pro2404Ser | |
| ENST00000675476.1:c.8236C>T (CEP290) | ENSP00000502161.1:p.Pro2746Ser | |
| ENST00000675628.1:n.9357C>T (CEP290) | ||
| ENST00000675794.1:c.*5546C>T (CEP290) | ENSP00000502841.1:n.*5546C>T | |
| ENST00000675833.1:c.8143C>T (CEP290) | ENSP00000502559.1:p.Pro2715Ser | |
| ENST00000675894.1:n.3680C>T (CEP290) | ||
| ENST00000676074.1:c.*332C>T (CEP290) | ENSP00000502079.1:n.*332C>T | |
| ENST00000676181.1:n.8058C>T (CEP290) | ||
| ENST00000676190.1:n.3569C>T (CEP290) | ||
| ENST00000676363.1:n.13101C>T (CEP290) | ||
| ENST00000309041.11:c.7381C>T (CEP290) | ENSP00000308021.7:p.Pro2461Ser | |
| ENST00000356891.3:c.*827G>A (RLIG1) | ENSP00000349358.3:n.*827G>A | |
| ENST00000547691.6:c.4555C>T (CEP290) | ENSP00000446905.1:p.Pro1519Ser | |
| ENST00000550333.5:c.*1570G>A (RLIG1) | ENSP00000448194.1:n.*1570G>A | |
| ENST00000552810.5:c.7375C>T (CEP290) | ENSP00000448012.1:p.Pro2459Ser | |
| NM_001009894.2:c.*827G>A (RLIG1) | NP_001009894.2:n.*827G>A | |
| NM_025114.3:c.7375C>T (CEP290) | NP_079390.3:p.Pro2459Ser | |
| XM_011538756.1:c.8245C>T (CEP290) | XP_011537058.1:p.Pro2749Ser | |
| XM_011538757.1:c.8245C>T (CEP290) | XP_011537059.1:p.Pro2749Ser | |
| XM_011538758.1:c.8242C>T (CEP290) | XP_011537060.1:p.Pro2748Ser | |
| XM_011538759.1:c.8236C>T (CEP290) | XP_011537061.1:p.Pro2746Ser | |
| XM_011538760.1:c.8122C>T (CEP290) | XP_011537062.1:p.Pro2708Ser | |
| XM_011538761.1:c.8080C>T (CEP290) | XP_011537063.1:p.Pro2694Ser | |
| XM_011538762.1:c.7477C>T (CEP290) | XP_011537064.1:p.Pro2493Ser | |
| XM_011538763.1:c.7384C>T (CEP290) | XP_011537065.1:p.Pro2462Ser | |
| XM_011538766.1:c.6706C>T (CEP290) | XP_011537068.1:p.Pro2236Ser | |
| XM_011538756.3:c.8245C>T (CEP290) | XP_011537058.1:p.Pro2749Ser | |
| XM_011538757.3:c.8245C>T (CEP290) | XP_011537059.1:p.Pro2749Ser | |
| XM_011538758.3:c.8242C>T (CEP290) | XP_011537060.1:p.Pro2748Ser | |
| XM_011538759.2:c.8236C>T (CEP290) | XP_011537061.1:p.Pro2746Ser | |
| XM_011538760.2:c.8122C>T (CEP290) | XP_011537062.1:p.Pro2708Ser | |
| XM_011538761.2:c.8080C>T (CEP290) | XP_011537063.1:p.Pro2694Ser | |
| XM_011538762.3:c.7477C>T (CEP290) | XP_011537064.1:p.Pro2493Ser | |
| XM_011538763.3:c.7384C>T (CEP290) | XP_011537065.1:p.Pro2462Ser | |
| XM_011538766.3:c.6706C>T (CEP290) | XP_011537068.1:p.Pro2236Ser | |
| XM_017019980.2:c.8113C>T (CEP290) | XP_016875469.1:p.Pro2705Ser | |
| XM_017019981.2:c.8071C>T (CEP290) | XP_016875470.1:p.Pro2691Ser | |
| XM_017019983.2:c.7363C>T (CEP290) | XP_016875472.1:p.Pro2455Ser | |
| NM_001009894.3:c.*827G>A (RLIG1) MANE Select | NP_001009894.2:n.*827G>A | |
| NM_025114.4:c.7375C>T (CEP290) MANE Select | NP_079390.3:p.Pro2459Ser |