Canonical Allele Identifier: CA385972320
Gene: CEP290 HGNC NCBI
RLIG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88049266C>T , CM000674.2:g.88049266C>T GRCh38
NC_000012.11:g.88443043C>T , CM000674.1:g.88443043C>T GRCh37
NC_000012.10:g.86967174C>T NCBI36
NG_008417.1:g.97951G>A
NG_008417.2:g.97951G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309041.12:c.7367G>A (CEP290) ENSP00000308021.8:p.Gly2456Glu
ENST00000356891.4:c.*844C>T (RLIG1) MANE Select ENSP00000349358.3:n.*844C>T
ENST00000547691.8:c.4327G>A (CEP290)
ENST00000552810.6:c.7358G>A (CEP290) MANE Select ENSP00000448012.1:p.Gly2453Glu
ENST00000671777.2:n.1137G>A (CEP290)
ENST00000672414.2:c.*5364G>A (CEP290) ENSP00000500729.1:n.*5364G>A
ENST00000672647.1:n.5718G>A (CEP290)
ENST00000673058.2:c.7235G>A (CEP290) ENSP00000500665.2:p.Gly2412Glu
ENST00000674712.1:n.885G>A (CEP290)
ENST00000674889.1:n.4311G>A (CEP290)
ENST00000674971.1:c.*315G>A (CEP290) ENSP00000502194.1:n.*315G>A
ENST00000675230.1:c.7337G>A (CEP290) ENSP00000502503.1:p.Gly2446Glu
ENST00000675408.1:c.7193G>A (CEP290) ENSP00000502298.1:p.Gly2398Glu
ENST00000675476.1:c.8219G>A (CEP290) ENSP00000502161.1:p.Gly2740Glu
ENST00000675628.1:n.9340G>A (CEP290)
ENST00000675794.1:c.*5529G>A (CEP290) ENSP00000502841.1:n.*5529G>A
ENST00000675833.1:c.8126G>A (CEP290) ENSP00000502559.1:p.Gly2709Glu
ENST00000675894.1:n.3663G>A (CEP290)
ENST00000676074.1:c.*315G>A (CEP290) ENSP00000502079.1:n.*315G>A
ENST00000676181.1:n.8041G>A (CEP290)
ENST00000676190.1:n.3552G>A (CEP290)
ENST00000676363.1:n.13084G>A (CEP290)
ENST00000309041.11:c.7364G>A (CEP290) ENSP00000308021.7:p.Gly2455Glu
ENST00000356891.3:c.*844C>T (RLIG1) ENSP00000349358.3:n.*844C>T
ENST00000547691.6:c.4538G>A (CEP290) ENSP00000446905.1:p.Gly1513Glu
ENST00000550333.5:c.*1587C>T (RLIG1) ENSP00000448194.1:n.*1587C>T
ENST00000552810.5:c.7358G>A (CEP290) ENSP00000448012.1:p.Gly2453Glu
NM_001009894.2:c.*844C>T (RLIG1) NP_001009894.2:n.*844C>T
NM_025114.3:c.7358G>A (CEP290) NP_079390.3:p.Gly2453Glu
XM_011538756.1:c.8228G>A (CEP290) XP_011537058.1:p.Gly2743Glu
XM_011538757.1:c.8228G>A (CEP290) XP_011537059.1:p.Gly2743Glu
XM_011538758.1:c.8225G>A (CEP290) XP_011537060.1:p.Gly2742Glu
XM_011538759.1:c.8219G>A (CEP290) XP_011537061.1:p.Gly2740Glu
XM_011538760.1:c.8105G>A (CEP290) XP_011537062.1:p.Gly2702Glu
XM_011538761.1:c.8063G>A (CEP290) XP_011537063.1:p.Gly2688Glu
XM_011538762.1:c.7460G>A (CEP290) XP_011537064.1:p.Gly2487Glu
XM_011538763.1:c.7367G>A (CEP290) XP_011537065.1:p.Gly2456Glu
XM_011538766.1:c.6689G>A (CEP290) XP_011537068.1:p.Gly2230Glu
XM_011538756.3:c.8228G>A (CEP290) XP_011537058.1:p.Gly2743Glu
XM_011538757.3:c.8228G>A (CEP290) XP_011537059.1:p.Gly2743Glu
XM_011538758.3:c.8225G>A (CEP290) XP_011537060.1:p.Gly2742Glu
XM_011538759.2:c.8219G>A (CEP290) XP_011537061.1:p.Gly2740Glu
XM_011538760.2:c.8105G>A (CEP290) XP_011537062.1:p.Gly2702Glu
XM_011538761.2:c.8063G>A (CEP290) XP_011537063.1:p.Gly2688Glu
XM_011538762.3:c.7460G>A (CEP290) XP_011537064.1:p.Gly2487Glu
XM_011538763.3:c.7367G>A (CEP290) XP_011537065.1:p.Gly2456Glu
XM_011538766.3:c.6689G>A (CEP290) XP_011537068.1:p.Gly2230Glu
XM_017019980.2:c.8096G>A (CEP290) XP_016875469.1:p.Gly2699Glu
XM_017019981.2:c.8054G>A (CEP290) XP_016875470.1:p.Gly2685Glu
XM_017019983.2:c.7346G>A (CEP290) XP_016875472.1:p.Gly2449Glu
NM_001009894.3:c.*844C>T (RLIG1) MANE Select NP_001009894.2:n.*844C>T
NM_025114.4:c.7358G>A (CEP290) MANE Select NP_079390.3:p.Gly2453Glu