Canonical Allele Identifier: CA385975083

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88111767A>C , CM000674.2:g.88111767A>C	GRCh38
NC_000012.11:g.88505544A>C , CM000674.1:g.88505544A>C	GRCh37
NC_000012.10:g.87029675A>C	NCBI36
NG_008417.1:g.35450T>G
NG_008417.2:g.35450T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025114.4:c.2144T>G MANE Select	NP_079390.3:p.Leu715Ter
ENST00000552810.6:c.2144T>G MANE Select	ENSP00000448012.1:p.Leu715Ter
NM_025114.3:c.2144T>G	NP_079390.3:p.Leu715Ter
ENST00000309041.11:c.2150T>G	ENSP00000308021.7:p.Leu717Ter
ENST00000309041.12:c.2144T>G	ENSP00000308021.8:p.Leu715Ter
ENST00000397838.7:c.2150T>G	ENSP00000380938.4:p.Leu717Ter
ENST00000547926.6:c.1899T>G	ENSP00000448573.2:n.1899T>G
ENST00000547926.7:c.*57T>G	ENSP00000448573.3:n.*57T>G
ENST00000552810.5:c.2144T>G	ENSP00000448012.1:p.Leu715Ter
ENST00000604024.5:c.1403T>G	ENSP00000473863.1:p.Leu468Ter
ENST00000671822.2:n.3700T>G
ENST00000672414.2:c.*315T>G	ENSP00000500729.1:n.*315T>G
ENST00000673058.2:c.2144T>G	ENSP00000500665.2:p.Leu715Ter
ENST00000674971.1:c.2144T>G	ENSP00000502194.1:p.Leu715Ter
ENST00000675230.1:c.2123T>G	ENSP00000502503.1:p.Leu708Ter
ENST00000675408.1:c.2144T>G	ENSP00000502298.1:p.Leu715Ter
ENST00000675476.1:c.3005T>G	ENSP00000502161.1:p.Leu1002Ter
ENST00000675628.1:n.2371T>G
ENST00000675794.1:c.*315T>G	ENSP00000502841.1:n.*315T>G
ENST00000675833.1:c.2912T>G	ENSP00000502559.1:p.Leu971Ter
ENST00000676074.1:c.2144T>G	ENSP00000502079.1:p.Leu715Ter
ENST00000676363.1:n.4207T>G
ENST00000676448.1:c.*57T>G	ENSP00000501987.1:n.*57T>G
XM_011538756.1:c.3005T>G	XP_011537058.1:p.Leu1002Ter
XM_011538756.3:c.3005T>G	XP_011537058.1:p.Leu1002Ter
XM_011538757.1:c.3005T>G	XP_011537059.1:p.Leu1002Ter
XM_011538757.3:c.3005T>G	XP_011537059.1:p.Leu1002Ter
XM_011538758.1:c.3005T>G	XP_011537060.1:p.Leu1002Ter
XM_011538758.3:c.3005T>G	XP_011537060.1:p.Leu1002Ter
XM_011538759.1:c.3005T>G	XP_011537061.1:p.Leu1002Ter
XM_011538759.2:c.3005T>G	XP_011537061.1:p.Leu1002Ter
XM_011538760.1:c.3005T>G	XP_011537062.1:p.Leu1002Ter
XM_011538760.2:c.3005T>G	XP_011537062.1:p.Leu1002Ter
XM_011538761.1:c.3005T>G	XP_011537063.1:p.Leu1002Ter
XM_011538761.2:c.3005T>G	XP_011537063.1:p.Leu1002Ter
XM_011538762.1:c.2237T>G	XP_011537064.1:p.Leu746Ter
XM_011538762.3:c.2237T>G	XP_011537064.1:p.Leu746Ter
XM_011538763.1:c.2144T>G	XP_011537065.1:p.Leu715Ter
XM_011538763.3:c.2144T>G	XP_011537065.1:p.Leu715Ter
XM_011538764.1:c.3005T>G	XP_011537066.1:p.Leu1002Ter
XM_011538764.3:c.3005T>G	XP_011537066.1:p.Leu1002Ter
XM_011538765.1:c.3005T>G	XP_011537067.1:p.Leu1002Ter
XM_011538765.3:c.3005T>G	XP_011537067.1:p.Leu1002Ter
XM_011538766.1:c.1466T>G	XP_011537068.1:p.Leu489Ter
XM_011538766.3:c.1466T>G	XP_011537068.1:p.Leu489Ter
XM_017019980.2:c.3005T>G	XP_016875469.1:p.Leu1002Ter
XM_017019981.2:c.3005T>G	XP_016875470.1:p.Leu1002Ter
XM_017019982.1:c.3005T>G	XP_016875471.1:p.Leu1002Ter
XM_017019983.2:c.2123T>G	XP_016875472.1:p.Leu708Ter
XR_001748869.1:n.3349T>G
XR_001748870.2:n.3349T>G