Canonical Allele Identifier: CA6711335

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88050394G>C , CM000674.2:g.88050394G>C	GRCh38
NC_000012.11:g.88444171G>C , CM000674.1:g.88444171G>C	GRCh37
NC_000012.10:g.86968302G>C	NCBI36
NG_008417.1:g.96823C>G
NG_008417.2:g.96823C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.7178C>G	ENSP00000308021.8:p.Thr2393Arg
ENST00000547691.8:c.4138C>G
ENST00000552810.6:c.7169C>G MANE Select	ENSP00000448012.1:p.Thr2390Arg
ENST00000671777.2:n.948C>G
ENST00000672414.2:c.*5175C>G	ENSP00000500729.1:n.*5175C>G
ENST00000672647.1:n.5529C>G
ENST00000673058.2:c.7046C>G	ENSP00000500665.2:p.Thr2349Arg
ENST00000674712.1:n.696C>G
ENST00000674889.1:n.4122C>G
ENST00000674971.1:c.*126C>G	ENSP00000502194.1:n.*126C>G
ENST00000675230.1:c.7148C>G	ENSP00000502503.1:p.Thr2383Arg
ENST00000675408.1:c.7004C>G	ENSP00000502298.1:p.Thr2335Arg
ENST00000675476.1:c.8030C>G	ENSP00000502161.1:p.Thr2677Arg
ENST00000675628.1:n.9151C>G
ENST00000675794.1:c.*5340C>G	ENSP00000502841.1:n.*5340C>G
ENST00000675833.1:c.7937C>G	ENSP00000502559.1:p.Thr2646Arg
ENST00000675894.1:n.3474C>G
ENST00000676074.1:c.*126C>G	ENSP00000502079.1:n.*126C>G
ENST00000676181.1:n.7852C>G
ENST00000676190.1:n.3363C>G
ENST00000676363.1:n.12895C>G
ENST00000309041.11:c.7175C>G	ENSP00000308021.7:p.Thr2392Arg
ENST00000547691.6:c.4349C>G	ENSP00000446905.1:p.Thr1450Arg
ENST00000552810.5:c.7169C>G	ENSP00000448012.1:p.Thr2390Arg
NM_025114.3:c.7169C>G	NP_079390.3:p.Thr2390Arg
XM_011538756.1:c.8039C>G	XP_011537058.1:p.Thr2680Arg
XM_011538757.1:c.8039C>G	XP_011537059.1:p.Thr2680Arg
XM_011538758.1:c.8036C>G	XP_011537060.1:p.Thr2679Arg
XM_011538759.1:c.8030C>G	XP_011537061.1:p.Thr2677Arg
XM_011538760.1:c.7916C>G	XP_011537062.1:p.Thr2639Arg
XM_011538761.1:c.7874C>G	XP_011537063.1:p.Thr2625Arg
XM_011538762.1:c.7271C>G	XP_011537064.1:p.Thr2424Arg
XM_011538763.1:c.7178C>G	XP_011537065.1:p.Thr2393Arg
XM_011538766.1:c.6500C>G	XP_011537068.1:p.Thr2167Arg
XM_011538756.3:c.8039C>G	XP_011537058.1:p.Thr2680Arg
XM_011538757.3:c.8039C>G	XP_011537059.1:p.Thr2680Arg
XM_011538758.3:c.8036C>G	XP_011537060.1:p.Thr2679Arg
XM_011538759.2:c.8030C>G	XP_011537061.1:p.Thr2677Arg
XM_011538760.2:c.7916C>G	XP_011537062.1:p.Thr2639Arg
XM_011538761.2:c.7874C>G	XP_011537063.1:p.Thr2625Arg
XM_011538762.3:c.7271C>G	XP_011537064.1:p.Thr2424Arg
XM_011538763.3:c.7178C>G	XP_011537065.1:p.Thr2393Arg
XM_011538766.3:c.6500C>G	XP_011537068.1:p.Thr2167Arg
XM_017019980.2:c.7907C>G	XP_016875469.1:p.Thr2636Arg
XM_017019981.2:c.7865C>G	XP_016875470.1:p.Thr2622Arg
XM_017019983.2:c.7157C>G	XP_016875472.1:p.Thr2386Arg
XR_001748869.1:n.8300C>G
XR_001748870.2:n.8135C>G
NM_025114.4:c.7169C>G MANE Select	NP_079390.3:p.Thr2390Arg