Canonical Allele Identifier: CA385970740

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88106674C>A , CM000674.2:g.88106674C>A	GRCh38
NC_000012.11:g.88500451C>A , CM000674.1:g.88500451C>A	GRCh37
NC_000012.10:g.87024582C>A	NCBI36
NG_008417.1:g.40543G>T
NG_008417.2:g.40543G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025114.4:c.2817+1G>T MANE Select	NP_079390.3:n.2817+1G>T
ENST00000552810.6:c.2817+1G>T MANE Select	ENSP00000448012.1:n.2817+1G>T
NM_025114.3:c.2817+1G>T	NP_079390.3:n.2817+1G>T
ENST00000309041.11:c.2823+1G>T	ENSP00000308021.7:n.2823+1G>T
ENST00000309041.12:c.2817+1G>T	ENSP00000308021.8:n.2817+1G>T
ENST00000547691.8:c.101+1G>T
ENST00000552810.5:c.2817+1G>T	ENSP00000448012.1:n.2817+1G>T
ENST00000604024.5:c.2076+1G>T	ENSP00000473863.1:n.2076+1G>T
ENST00000672414.2:c.*988+1G>T	ENSP00000500729.1:n.*988+1G>T
ENST00000673058.2:c.2817+1G>T	ENSP00000500665.2:n.2817+1G>T
ENST00000674971.1:c.2817+1G>T	ENSP00000502194.1:n.2817+1G>T
ENST00000675230.1:c.2796+1G>T	ENSP00000502503.1:n.2796+1G>T
ENST00000675408.1:c.2817+1G>T	ENSP00000502298.1:n.2817+1G>T
ENST00000675476.1:c.3678+1G>T	ENSP00000502161.1:n.3678+1G>T
ENST00000675628.1:n.3044+1G>T
ENST00000675794.1:c.*988+1G>T	ENSP00000502841.1:n.*988+1G>T
ENST00000675833.1:c.3585+1G>T	ENSP00000502559.1:n.3585+1G>T
ENST00000676074.1:c.2817+1G>T	ENSP00000502079.1:n.2817+1G>T
ENST00000676363.1:n.4881G>T
ENST00000676448.1:c.*730+1G>T	ENSP00000501987.1:n.*730+1G>T
XM_011538756.1:c.3678+1G>T	XP_011537058.1:n.3678+1G>T
XM_011538756.3:c.3678+1G>T	XP_011537058.1:n.3678+1G>T
XM_011538757.1:c.3678+1G>T	XP_011537059.1:n.3678+1G>T
XM_011538757.3:c.3678+1G>T	XP_011537059.1:n.3678+1G>T
XM_011538758.1:c.3678+1G>T	XP_011537060.1:n.3678+1G>T
XM_011538758.3:c.3678+1G>T	XP_011537060.1:n.3678+1G>T
XM_011538759.1:c.3678+1G>T	XP_011537061.1:n.3678+1G>T
XM_011538759.2:c.3678+1G>T	XP_011537061.1:n.3678+1G>T
XM_011538760.1:c.3678+1G>T	XP_011537062.1:n.3678+1G>T
XM_011538760.2:c.3678+1G>T	XP_011537062.1:n.3678+1G>T
XM_011538761.1:c.3678+1G>T	XP_011537063.1:n.3678+1G>T
XM_011538761.2:c.3678+1G>T	XP_011537063.1:n.3678+1G>T
XM_011538762.1:c.2910+1G>T	XP_011537064.1:n.2910+1G>T
XM_011538762.3:c.2910+1G>T	XP_011537064.1:n.2910+1G>T
XM_011538763.1:c.2817+1G>T	XP_011537065.1:n.2817+1G>T
XM_011538763.3:c.2817+1G>T	XP_011537065.1:n.2817+1G>T
XM_011538764.1:c.3678+1G>T	XP_011537066.1:n.3678+1G>T
XM_011538764.3:c.3678+1G>T	XP_011537066.1:n.3678+1G>T
XM_011538765.1:c.3678+1G>T	XP_011537067.1:n.3678+1G>T
XM_011538765.3:c.3678+1G>T	XP_011537067.1:n.3678+1G>T
XM_011538766.1:c.2139+1G>T	XP_011537068.1:n.2139+1G>T
XM_011538766.3:c.2139+1G>T	XP_011537068.1:n.2139+1G>T
XM_017019980.2:c.3678+1G>T	XP_016875469.1:n.3678+1G>T
XM_017019981.2:c.3678+1G>T	XP_016875470.1:n.3678+1G>T
XM_017019982.1:c.3678+1G>T	XP_016875471.1:n.3678+1G>T
XM_017019983.2:c.2796+1G>T	XP_016875472.1:n.2796+1G>T
XR_001748869.1:n.4022+1G>T
XR_001748870.2:n.4022+1G>T