Canonical Allele Identifier: CA6711285
Community Standard Title: NM_001009894.3(RLIG1):c.*862T>G
Gene: CEP290 HGNC NCBI
RLIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88049284T>G , CM000674.2:g.88049284T>G GRCh38
NC_000012.11:g.88443061T>G , CM000674.1:g.88443061T>G GRCh37
NC_000012.10:g.86967192T>G NCBI36
NG_008417.1:g.97933A>C
NG_008417.2:g.97933A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001009894.3:c.*862T>G (RLIG1) MANE Select NP_001009894.2:n.*862T>G
NM_025114.4:c.7340A>C (CEP290) MANE Select NP_079390.3:p.Lys2447Thr
ENST00000356891.4:c.*862T>G (RLIG1) MANE Select ENSP00000349358.3:n.*862T>G
ENST00000552810.6:c.7340A>C (CEP290) MANE Select ENSP00000448012.1:p.Lys2447Thr
NM_001009894.2:c.*862T>G (RLIG1) NP_001009894.2:n.*862T>G
NM_025114.3:c.7340A>C (CEP290) NP_079390.3:p.Lys2447Thr
ENST00000309041.11:c.7346A>C (CEP290) ENSP00000308021.7:p.Lys2449Thr
ENST00000309041.12:c.7349A>C (CEP290) ENSP00000308021.8:p.Lys2450Thr
ENST00000356891.3:c.*862T>G (RLIG1) ENSP00000349358.3:n.*862T>G
ENST00000547691.6:c.4520A>C (CEP290) ENSP00000446905.1:p.Lys1507Thr
ENST00000547691.8:c.4309A>C (CEP290)
ENST00000550333.5:c.*1605T>G (RLIG1) ENSP00000448194.1:n.*1605T>G
ENST00000552810.5:c.7340A>C (CEP290) ENSP00000448012.1:p.Lys2447Thr
ENST00000671777.2:n.1119A>C (CEP290)
ENST00000672414.2:c.*5346A>C (CEP290) ENSP00000500729.1:n.*5346A>C
ENST00000672647.1:n.5700A>C (CEP290)
ENST00000673058.2:c.7217A>C (CEP290) ENSP00000500665.2:p.Lys2406Thr
ENST00000674712.1:n.867A>C (CEP290)
ENST00000674889.1:n.4293A>C (CEP290)
ENST00000674971.1:c.*297A>C (CEP290) ENSP00000502194.1:n.*297A>C
ENST00000675230.1:c.7319A>C (CEP290) ENSP00000502503.1:p.Lys2440Thr
ENST00000675408.1:c.7175A>C (CEP290) ENSP00000502298.1:p.Lys2392Thr
ENST00000675476.1:c.8201A>C (CEP290) ENSP00000502161.1:p.Lys2734Thr
ENST00000675628.1:n.9322A>C (CEP290)
ENST00000675794.1:c.*5511A>C (CEP290) ENSP00000502841.1:n.*5511A>C
ENST00000675833.1:c.8108A>C (CEP290) ENSP00000502559.1:p.Lys2703Thr
ENST00000675894.1:n.3645A>C (CEP290)
ENST00000676074.1:c.*297A>C (CEP290) ENSP00000502079.1:n.*297A>C
ENST00000676181.1:n.8023A>C (CEP290)
ENST00000676190.1:n.3534A>C (CEP290)
ENST00000676363.1:n.13066A>C (CEP290)
XM_011538756.1:c.8210A>C (CEP290) XP_011537058.1:p.Lys2737Thr
XM_011538756.3:c.8210A>C (CEP290) XP_011537058.1:p.Lys2737Thr
XM_011538757.1:c.8210A>C (CEP290) XP_011537059.1:p.Lys2737Thr
XM_011538757.3:c.8210A>C (CEP290) XP_011537059.1:p.Lys2737Thr
XM_011538758.1:c.8207A>C (CEP290) XP_011537060.1:p.Lys2736Thr
XM_011538758.3:c.8207A>C (CEP290) XP_011537060.1:p.Lys2736Thr
XM_011538759.1:c.8201A>C (CEP290) XP_011537061.1:p.Lys2734Thr
XM_011538759.2:c.8201A>C (CEP290) XP_011537061.1:p.Lys2734Thr
XM_011538760.1:c.8087A>C (CEP290) XP_011537062.1:p.Lys2696Thr
XM_011538760.2:c.8087A>C (CEP290) XP_011537062.1:p.Lys2696Thr
XM_011538761.1:c.8045A>C (CEP290) XP_011537063.1:p.Lys2682Thr
XM_011538761.2:c.8045A>C (CEP290) XP_011537063.1:p.Lys2682Thr
XM_011538762.1:c.7442A>C (CEP290) XP_011537064.1:p.Lys2481Thr
XM_011538762.3:c.7442A>C (CEP290) XP_011537064.1:p.Lys2481Thr
XM_011538763.1:c.7349A>C (CEP290) XP_011537065.1:p.Lys2450Thr
XM_011538763.3:c.7349A>C (CEP290) XP_011537065.1:p.Lys2450Thr
XM_011538766.1:c.6671A>C (CEP290) XP_011537068.1:p.Lys2224Thr
XM_011538766.3:c.6671A>C (CEP290) XP_011537068.1:p.Lys2224Thr
XM_017019980.2:c.8078A>C (CEP290) XP_016875469.1:p.Lys2693Thr
XM_017019981.2:c.8036A>C (CEP290) XP_016875470.1:p.Lys2679Thr
XM_017019983.2:c.7328A>C (CEP290) XP_016875472.1:p.Lys2443Thr