Canonical Allele Identifier: CA385973894

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88050430G>C , CM000674.2:g.88050430G>C	GRCh38
NC_000012.11:g.88444207G>C , CM000674.1:g.88444207G>C	GRCh37
NC_000012.10:g.86968338G>C	NCBI36
NG_008417.1:g.96787C>G
NG_008417.2:g.96787C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.7142C>G	ENSP00000308021.8:p.Ala2381Gly
ENST00000547691.8:c.4102C>G
ENST00000552810.6:c.7133C>G MANE Select	ENSP00000448012.1:p.Ala2378Gly
ENST00000671777.2:n.912C>G
ENST00000672414.2:c.*5139C>G	ENSP00000500729.1:n.*5139C>G
ENST00000672647.1:n.5493C>G
ENST00000673058.2:c.7010C>G	ENSP00000500665.2:p.Ala2337Gly
ENST00000674712.1:n.660C>G
ENST00000674889.1:n.4086C>G
ENST00000674971.1:c.*90C>G	ENSP00000502194.1:n.*90C>G
ENST00000675230.1:c.7112C>G	ENSP00000502503.1:p.Ala2371Gly
ENST00000675408.1:c.6968C>G	ENSP00000502298.1:p.Ala2323Gly
ENST00000675476.1:c.7994C>G	ENSP00000502161.1:p.Ala2665Gly
ENST00000675628.1:n.9115C>G
ENST00000675794.1:c.*5304C>G	ENSP00000502841.1:n.*5304C>G
ENST00000675833.1:c.7901C>G	ENSP00000502559.1:p.Ala2634Gly
ENST00000675894.1:n.3438C>G
ENST00000676074.1:c.*90C>G	ENSP00000502079.1:n.*90C>G
ENST00000676181.1:n.7816C>G
ENST00000676190.1:n.3327C>G
ENST00000676363.1:n.12859C>G
ENST00000309041.11:c.7139C>G	ENSP00000308021.7:p.Ala2380Gly
ENST00000547691.6:c.4313C>G	ENSP00000446905.1:p.Ala1438Gly
ENST00000552810.5:c.7133C>G	ENSP00000448012.1:p.Ala2378Gly
NM_025114.3:c.7133C>G	NP_079390.3:p.Ala2378Gly
XM_011538756.1:c.8003C>G	XP_011537058.1:p.Ala2668Gly
XM_011538757.1:c.8003C>G	XP_011537059.1:p.Ala2668Gly
XM_011538758.1:c.8000C>G	XP_011537060.1:p.Ala2667Gly
XM_011538759.1:c.7994C>G	XP_011537061.1:p.Ala2665Gly
XM_011538760.1:c.7880C>G	XP_011537062.1:p.Ala2627Gly
XM_011538761.1:c.7838C>G	XP_011537063.1:p.Ala2613Gly
XM_011538762.1:c.7235C>G	XP_011537064.1:p.Ala2412Gly
XM_011538763.1:c.7142C>G	XP_011537065.1:p.Ala2381Gly
XM_011538766.1:c.6464C>G	XP_011537068.1:p.Ala2155Gly
XM_011538756.3:c.8003C>G	XP_011537058.1:p.Ala2668Gly
XM_011538757.3:c.8003C>G	XP_011537059.1:p.Ala2668Gly
XM_011538758.3:c.8000C>G	XP_011537060.1:p.Ala2667Gly
XM_011538759.2:c.7994C>G	XP_011537061.1:p.Ala2665Gly
XM_011538760.2:c.7880C>G	XP_011537062.1:p.Ala2627Gly
XM_011538761.2:c.7838C>G	XP_011537063.1:p.Ala2613Gly
XM_011538762.3:c.7235C>G	XP_011537064.1:p.Ala2412Gly
XM_011538763.3:c.7142C>G	XP_011537065.1:p.Ala2381Gly
XM_011538766.3:c.6464C>G	XP_011537068.1:p.Ala2155Gly
XM_017019980.2:c.7871C>G	XP_016875469.1:p.Ala2624Gly
XM_017019981.2:c.7829C>G	XP_016875470.1:p.Ala2610Gly
XM_017019983.2:c.7121C>G	XP_016875472.1:p.Ala2374Gly
XR_001748869.1:n.8264C>G
XR_001748870.2:n.8099C>G
NM_025114.4:c.7133C>G MANE Select	NP_079390.3:p.Ala2378Gly