Canonical Allele Identifier: CA6711462

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88059915G>A , CM000674.2:g.88059915G>A	GRCh38
NC_000012.11:g.88453692G>A , CM000674.1:g.88453692G>A	GRCh37
NC_000012.10:g.86977823G>A	NCBI36
NG_008417.1:g.87302C>T
NG_008417.2:g.87302C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.6637C>T	ENSP00000308021.8:p.Arg2213Cys
ENST00000547691.8:c.3912C>T
ENST00000552810.6:c.6628C>T MANE Select	ENSP00000448012.1:p.Arg2210Cys
ENST00000671777.2:n.407C>T
ENST00000672414.2:c.*4634C>T	ENSP00000500729.1:n.*4634C>T
ENST00000672647.1:n.4988C>T
ENST00000673058.2:c.6523-895C>T	ENSP00000500665.2:n.6523-895C>T
ENST00000674889.1:n.3581C>T
ENST00000674971.1:c.6628C>T	ENSP00000502194.1:p.Arg2210Cys
ENST00000675230.1:c.6607C>T	ENSP00000502503.1:p.Arg2203Cys
ENST00000675408.1:c.6463C>T	ENSP00000502298.1:p.Arg2155Cys
ENST00000675476.1:c.7489C>T	ENSP00000502161.1:p.Arg2497Cys
ENST00000675628.1:n.6855C>T
ENST00000675794.1:c.*4799C>T	ENSP00000502841.1:n.*4799C>T
ENST00000675833.1:c.7396C>T	ENSP00000502559.1:p.Arg2466Cys
ENST00000675894.1:n.2933C>T
ENST00000676074.1:c.6463C>T	ENSP00000502079.1:p.Arg2155Cys
ENST00000676181.1:n.5556C>T
ENST00000676190.1:n.1067C>T
ENST00000676363.1:n.12354C>T
ENST00000309041.11:c.6634C>T	ENSP00000308021.7:p.Arg2212Cys
ENST00000547691.6:c.3808C>T	ENSP00000446905.1:p.Arg1270Cys
ENST00000552810.5:c.6628C>T	ENSP00000448012.1:p.Arg2210Cys
NM_025114.3:c.6628C>T	NP_079390.3:p.Arg2210Cys
XM_011538756.1:c.7498C>T	XP_011537058.1:p.Arg2500Cys
XM_011538757.1:c.7498C>T	XP_011537059.1:p.Arg2500Cys
XM_011538758.1:c.7495C>T	XP_011537060.1:p.Arg2499Cys
XM_011538759.1:c.7489C>T	XP_011537061.1:p.Arg2497Cys
XM_011538760.1:c.7393-895C>T	XP_011537062.1:n.7393-895C>T
XM_011538761.1:c.7333C>T	XP_011537063.1:p.Arg2445Cys
XM_011538762.1:c.6730C>T	XP_011537064.1:p.Arg2244Cys
XM_011538763.1:c.6637C>T	XP_011537065.1:p.Arg2213Cys
XM_011538766.1:c.5959C>T	XP_011537068.1:p.Arg1987Cys
XR_945163.1:n.967+2895G>A
XM_011538756.3:c.7498C>T	XP_011537058.1:p.Arg2500Cys
XM_011538757.3:c.7498C>T	XP_011537059.1:p.Arg2500Cys
XM_011538758.3:c.7495C>T	XP_011537060.1:p.Arg2499Cys
XM_011538759.2:c.7489C>T	XP_011537061.1:p.Arg2497Cys
XM_011538760.2:c.7393-895C>T	XP_011537062.1:n.7393-895C>T
XM_011538761.2:c.7333C>T	XP_011537063.1:p.Arg2445Cys
XM_011538762.3:c.6730C>T	XP_011537064.1:p.Arg2244Cys
XM_011538763.3:c.6637C>T	XP_011537065.1:p.Arg2213Cys
XM_011538766.3:c.5959C>T	XP_011537068.1:p.Arg1987Cys
XM_017019980.2:c.7384-895C>T	XP_016875469.1:n.7384-895C>T
XM_017019981.2:c.7324C>T	XP_016875470.1:p.Arg2442Cys
XM_017019982.1:c.7498C>T	XP_016875471.1:p.Arg2500Cys
XM_017019983.2:c.6616C>T	XP_016875472.1:p.Arg2206Cys
XR_001748869.1:n.7833C>T
XR_001748870.2:n.7668C>T
NM_025114.4:c.6628C>T MANE Select	NP_079390.3:p.Arg2210Cys