Linked Data
ClinVar Variation Id:
530915
dbSNP Id:
rs534440681
ExAC:
12:88443090 C / A
gnomAD v2:
12-88443090-C-A
gnomAD v3:
12-88049313-C-A
gnomAD v4:
12-88049313-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88049313C>A , CM000674.2:g.88049313C>A | GRCh38 |
| NC_000012.11:g.88443090C>A , CM000674.1:g.88443090C>A | GRCh37 |
| NC_000012.10:g.86967221C>A | NCBI36 |
| NG_008417.1:g.97904G>T | |
| NG_008417.2:g.97904G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.7320G>T (CEP290) | ENSP00000308021.8:p.Lys2440Asn | |
| ENST00000356891.4:c.*891C>A (RLIG1) MANE Select | ENSP00000349358.3:n.*891C>A | |
| ENST00000547691.8:c.4280G>T (CEP290) | ||
| ENST00000552810.6:c.7311G>T (CEP290) MANE Select | ENSP00000448012.1:p.Lys2437Asn | |
| ENST00000671777.2:n.1090G>T (CEP290) | ||
| ENST00000672414.2:c.*5317G>T (CEP290) | ENSP00000500729.1:n.*5317G>T | |
| ENST00000672647.1:n.5671G>T (CEP290) | ||
| ENST00000673058.2:c.7188G>T (CEP290) | ENSP00000500665.2:p.Lys2396Asn | |
| ENST00000674712.1:n.838G>T (CEP290) | ||
| ENST00000674889.1:n.4264G>T (CEP290) | ||
| ENST00000674971.1:c.*268G>T (CEP290) | ENSP00000502194.1:n.*268G>T | |
| ENST00000675230.1:c.7290G>T (CEP290) | ENSP00000502503.1:p.Lys2430Asn | |
| ENST00000675408.1:c.7146G>T (CEP290) | ENSP00000502298.1:p.Lys2382Asn | |
| ENST00000675476.1:c.8172G>T (CEP290) | ENSP00000502161.1:p.Lys2724Asn | |
| ENST00000675628.1:n.9293G>T (CEP290) | ||
| ENST00000675794.1:c.*5482G>T (CEP290) | ENSP00000502841.1:n.*5482G>T | |
| ENST00000675833.1:c.8079G>T (CEP290) | ENSP00000502559.1:p.Lys2693Asn | |
| ENST00000675894.1:n.3616G>T (CEP290) | ||
| ENST00000676074.1:c.*268G>T (CEP290) | ENSP00000502079.1:n.*268G>T | |
| ENST00000676181.1:n.7994G>T (CEP290) | ||
| ENST00000676190.1:n.3505G>T (CEP290) | ||
| ENST00000676363.1:n.13037G>T (CEP290) | ||
| ENST00000309041.11:c.7317G>T (CEP290) | ENSP00000308021.7:p.Lys2439Asn | |
| ENST00000356891.3:c.*891C>A (RLIG1) | ENSP00000349358.3:n.*891C>A | |
| ENST00000547691.6:c.4491G>T (CEP290) | ENSP00000446905.1:p.Lys1497Asn | |
| ENST00000550333.5:c.*1634C>A (RLIG1) | ENSP00000448194.1:n.*1634C>A | |
| ENST00000552810.5:c.7311G>T (CEP290) | ENSP00000448012.1:p.Lys2437Asn | |
| NM_001009894.2:c.*891C>A (RLIG1) | NP_001009894.2:n.*891C>A | |
| NM_025114.3:c.7311G>T (CEP290) | NP_079390.3:p.Lys2437Asn | |
| XM_011538756.1:c.8181G>T (CEP290) | XP_011537058.1:p.Lys2727Asn | |
| XM_011538757.1:c.8181G>T (CEP290) | XP_011537059.1:p.Lys2727Asn | |
| XM_011538758.1:c.8178G>T (CEP290) | XP_011537060.1:p.Lys2726Asn | |
| XM_011538759.1:c.8172G>T (CEP290) | XP_011537061.1:p.Lys2724Asn | |
| XM_011538760.1:c.8058G>T (CEP290) | XP_011537062.1:p.Lys2686Asn | |
| XM_011538761.1:c.8016G>T (CEP290) | XP_011537063.1:p.Lys2672Asn | |
| XM_011538762.1:c.7413G>T (CEP290) | XP_011537064.1:p.Lys2471Asn | |
| XM_011538763.1:c.7320G>T (CEP290) | XP_011537065.1:p.Lys2440Asn | |
| XM_011538766.1:c.6642G>T (CEP290) | XP_011537068.1:p.Lys2214Asn | |
| XM_011538756.3:c.8181G>T (CEP290) | XP_011537058.1:p.Lys2727Asn | |
| XM_011538757.3:c.8181G>T (CEP290) | XP_011537059.1:p.Lys2727Asn | |
| XM_011538758.3:c.8178G>T (CEP290) | XP_011537060.1:p.Lys2726Asn | |
| XM_011538759.2:c.8172G>T (CEP290) | XP_011537061.1:p.Lys2724Asn | |
| XM_011538760.2:c.8058G>T (CEP290) | XP_011537062.1:p.Lys2686Asn | |
| XM_011538761.2:c.8016G>T (CEP290) | XP_011537063.1:p.Lys2672Asn | |
| XM_011538762.3:c.7413G>T (CEP290) | XP_011537064.1:p.Lys2471Asn | |
| XM_011538763.3:c.7320G>T (CEP290) | XP_011537065.1:p.Lys2440Asn | |
| XM_011538766.3:c.6642G>T (CEP290) | XP_011537068.1:p.Lys2214Asn | |
| XM_017019980.2:c.8049G>T (CEP290) | XP_016875469.1:p.Lys2683Asn | |
| XM_017019981.2:c.8007G>T (CEP290) | XP_016875470.1:p.Lys2669Asn | |
| XM_017019983.2:c.7299G>T (CEP290) | XP_016875472.1:p.Lys2433Asn | |
| NM_001009894.3:c.*891C>A (RLIG1) MANE Select | NP_001009894.2:n.*891C>A | |
| NM_025114.4:c.7311G>T (CEP290) MANE Select | NP_079390.3:p.Lys2437Asn |