Canonical Allele Identifier: CA481052521
Gene: CEP290 HGNC NCBI
RLIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88049295C>T , CM000674.2:g.88049295C>T GRCh38
NC_000012.11:g.88443072C>T , CM000674.1:g.88443072C>T GRCh37
NC_000012.10:g.86967203C>T NCBI36
NG_008417.1:g.97922G>A
NG_008417.2:g.97922G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001009894.3:c.*873C>T (RLIG1) MANE Select NP_001009894.2:n.*873C>T
NM_025114.4:c.7329G>A (CEP290) MANE Select NP_079390.3:p.Glu2443=
ENST00000356891.4:c.*873C>T (RLIG1) MANE Select ENSP00000349358.3:n.*873C>T
ENST00000552810.6:c.7329G>A (CEP290) MANE Select ENSP00000448012.1:p.Glu2443=
NM_001009894.2:c.*873C>T (RLIG1) NP_001009894.2:n.*873C>T
NM_025114.3:c.7329G>A (CEP290) NP_079390.3:p.Glu2443=
ENST00000309041.11:c.7335G>A (CEP290) ENSP00000308021.7:p.Glu2445=
ENST00000309041.12:c.7338G>A (CEP290) ENSP00000308021.8:p.Glu2446=
ENST00000356891.3:c.*873C>T (RLIG1) ENSP00000349358.3:n.*873C>T
ENST00000547691.6:c.4509G>A (CEP290) ENSP00000446905.1:p.Glu1503=
ENST00000547691.8:c.4298G>A (CEP290)
ENST00000550333.5:c.*1616C>T (RLIG1) ENSP00000448194.1:n.*1616C>T
ENST00000552810.5:c.7329G>A (CEP290) ENSP00000448012.1:p.Glu2443=
ENST00000671777.2:n.1108G>A (CEP290)
ENST00000672414.2:c.*5335G>A (CEP290) ENSP00000500729.1:n.*5335G>A
ENST00000672647.1:n.5689G>A (CEP290)
ENST00000673058.2:c.7206G>A (CEP290) ENSP00000500665.2:p.Glu2402=
ENST00000674712.1:n.856G>A (CEP290)
ENST00000674889.1:n.4282G>A (CEP290)
ENST00000674971.1:c.*286G>A (CEP290) ENSP00000502194.1:n.*286G>A
ENST00000675230.1:c.7308G>A (CEP290) ENSP00000502503.1:p.Glu2436=
ENST00000675408.1:c.7164G>A (CEP290) ENSP00000502298.1:p.Glu2388=
ENST00000675476.1:c.8190G>A (CEP290) ENSP00000502161.1:p.Glu2730=
ENST00000675628.1:n.9311G>A (CEP290)
ENST00000675794.1:c.*5500G>A (CEP290) ENSP00000502841.1:n.*5500G>A
ENST00000675833.1:c.8097G>A (CEP290) ENSP00000502559.1:p.Glu2699=
ENST00000675894.1:n.3634G>A (CEP290)
ENST00000676074.1:c.*286G>A (CEP290) ENSP00000502079.1:n.*286G>A
ENST00000676181.1:n.8012G>A (CEP290)
ENST00000676190.1:n.3523G>A (CEP290)
ENST00000676363.1:n.13055G>A (CEP290)
XM_011538756.1:c.8199G>A (CEP290) XP_011537058.1:p.Glu2733=
XM_011538756.3:c.8199G>A (CEP290) XP_011537058.1:p.Glu2733=
XM_011538757.1:c.8199G>A (CEP290) XP_011537059.1:p.Glu2733=
XM_011538757.3:c.8199G>A (CEP290) XP_011537059.1:p.Glu2733=
XM_011538758.1:c.8196G>A (CEP290) XP_011537060.1:p.Glu2732=
XM_011538758.3:c.8196G>A (CEP290) XP_011537060.1:p.Glu2732=
XM_011538759.1:c.8190G>A (CEP290) XP_011537061.1:p.Glu2730=
XM_011538759.2:c.8190G>A (CEP290) XP_011537061.1:p.Glu2730=
XM_011538760.1:c.8076G>A (CEP290) XP_011537062.1:p.Glu2692=
XM_011538760.2:c.8076G>A (CEP290) XP_011537062.1:p.Glu2692=
XM_011538761.1:c.8034G>A (CEP290) XP_011537063.1:p.Glu2678=
XM_011538761.2:c.8034G>A (CEP290) XP_011537063.1:p.Glu2678=
XM_011538762.1:c.7431G>A (CEP290) XP_011537064.1:p.Glu2477=
XM_011538762.3:c.7431G>A (CEP290) XP_011537064.1:p.Glu2477=
XM_011538763.1:c.7338G>A (CEP290) XP_011537065.1:p.Glu2446=
XM_011538763.3:c.7338G>A (CEP290) XP_011537065.1:p.Glu2446=
XM_011538766.1:c.6660G>A (CEP290) XP_011537068.1:p.Glu2220=
XM_011538766.3:c.6660G>A (CEP290) XP_011537068.1:p.Glu2220=
XM_017019980.2:c.8067G>A (CEP290) XP_016875469.1:p.Glu2689=
XM_017019981.2:c.8025G>A (CEP290) XP_016875470.1:p.Glu2675=
XM_017019983.2:c.7317G>A (CEP290) XP_016875472.1:p.Glu2439=