Canonical Allele Identifier: CA385980471

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88121038C>A , CM000674.2:g.88121038C>A	GRCh38
NC_000012.11:g.88514815C>A , CM000674.1:g.88514815C>A	GRCh37
NC_000012.10:g.87038946C>A	NCBI36
NG_008417.1:g.26179G>T
NG_008417.2:g.26179G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025114.4:c.1318G>T MANE Select	NP_079390.3:p.Glu440Ter
ENST00000552810.6:c.1318G>T MANE Select	ENSP00000448012.1:p.Glu440Ter
NM_025114.3:c.1318G>T	NP_079390.3:p.Glu440Ter
ENST00000309041.11:c.1318G>T	ENSP00000308021.7:p.Glu440Ter
ENST00000309041.12:c.1318G>T	ENSP00000308021.8:p.Glu440Ter
ENST00000397838.7:c.1318G>T	ENSP00000380938.4:p.Glu440Ter
ENST00000397838.8:c.1264G>T	ENSP00000380938.5:p.Glu422Ter
ENST00000547926.6:c.1216G>T	ENSP00000448573.2:p.Glu406Ter
ENST00000547926.7:c.1318G>T	ENSP00000448573.3:p.Glu440Ter
ENST00000552810.5:c.1318G>T	ENSP00000448012.1:p.Glu440Ter
ENST00000604024.5:c.484G>T	ENSP00000473863.1:p.Glu162Ter
ENST00000671822.2:n.1545G>T
ENST00000672414.2:c.1318G>T	ENSP00000500729.1:p.Glu440Ter
ENST00000673058.2:c.1318G>T	ENSP00000500665.2:p.Glu440Ter
ENST00000674971.1:c.1318G>T	ENSP00000502194.1:p.Glu440Ter
ENST00000675230.1:c.1297G>T	ENSP00000502503.1:p.Glu433Ter
ENST00000675408.1:c.1318G>T	ENSP00000502298.1:p.Glu440Ter
ENST00000675476.1:c.1318G>T	ENSP00000502161.1:p.Glu440Ter
ENST00000675559.1:c.1318G>T	ENSP00000502163.1:p.Glu440Ter
ENST00000675628.1:n.1545G>T
ENST00000675794.1:c.1318G>T	ENSP00000502841.1:p.Glu440Ter
ENST00000675833.1:c.1318G>T	ENSP00000502559.1:p.Glu440Ter
ENST00000676074.1:c.1318G>T	ENSP00000502079.1:p.Glu440Ter
ENST00000676351.1:c.*831G>T	ENSP00000502046.1:n.*831G>T
ENST00000676363.1:n.3381G>T
ENST00000676418.1:c.1318G>T	ENSP00000502371.1:p.Glu440Ter
ENST00000676448.1:c.1318G>T	ENSP00000501987.1:p.Glu440Ter
XM_011538756.1:c.1318G>T	XP_011537058.1:p.Glu440Ter
XM_011538756.3:c.1318G>T	XP_011537058.1:p.Glu440Ter
XM_011538757.1:c.1318G>T	XP_011537059.1:p.Glu440Ter
XM_011538757.3:c.1318G>T	XP_011537059.1:p.Glu440Ter
XM_011538758.1:c.1318G>T	XP_011537060.1:p.Glu440Ter
XM_011538758.3:c.1318G>T	XP_011537060.1:p.Glu440Ter
XM_011538759.1:c.1318G>T	XP_011537061.1:p.Glu440Ter
XM_011538759.2:c.1318G>T	XP_011537061.1:p.Glu440Ter
XM_011538760.1:c.1318G>T	XP_011537062.1:p.Glu440Ter
XM_011538760.2:c.1318G>T	XP_011537062.1:p.Glu440Ter
XM_011538761.1:c.1318G>T	XP_011537063.1:p.Glu440Ter
XM_011538761.2:c.1318G>T	XP_011537063.1:p.Glu440Ter
XM_011538762.1:c.1318G>T	XP_011537064.1:p.Glu440Ter
XM_011538762.3:c.1318G>T	XP_011537064.1:p.Glu440Ter
XM_011538763.1:c.1318G>T	XP_011537065.1:p.Glu440Ter
XM_011538763.3:c.1318G>T	XP_011537065.1:p.Glu440Ter
XM_011538764.1:c.1318G>T	XP_011537066.1:p.Glu440Ter
XM_011538764.3:c.1318G>T	XP_011537066.1:p.Glu440Ter
XM_011538765.1:c.1318G>T	XP_011537067.1:p.Glu440Ter
XM_011538765.3:c.1318G>T	XP_011537067.1:p.Glu440Ter
XM_017019980.2:c.1318G>T	XP_016875469.1:p.Glu440Ter
XM_017019981.2:c.1318G>T	XP_016875470.1:p.Glu440Ter
XM_017019982.1:c.1318G>T	XP_016875471.1:p.Glu440Ter
XM_017019983.2:c.1297G>T	XP_016875472.1:p.Glu433Ter
XR_001748869.1:n.1662G>T
XR_001748870.2:n.1662G>T