Canonical Allele Identifier: CA385979990

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88064099G>C , CM000674.2:g.88064099G>C	GRCh38
NC_000012.11:g.88457876G>C , CM000674.1:g.88457876G>C	GRCh37
NC_000012.10:g.86982007G>C	NCBI36
NG_008417.1:g.83118C>G
NG_008417.2:g.83118C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025114.4:c.6152C>G MANE Select	NP_079390.3:p.Ser2051Ter
ENST00000552810.6:c.6152C>G MANE Select	ENSP00000448012.1:p.Ser2051Ter
NM_025114.3:c.6152C>G	NP_079390.3:p.Ser2051Ter
ENST00000309041.11:c.6158C>G	ENSP00000308021.7:p.Ser2053Ter
ENST00000309041.12:c.6161C>G	ENSP00000308021.8:p.Ser2054Ter
ENST00000547691.6:c.3332C>G	ENSP00000446905.1:p.Ser1111Ter
ENST00000547691.8:c.3436C>G
ENST00000552810.5:c.6152C>G	ENSP00000448012.1:p.Ser2051Ter
ENST00000672414.2:c.*4323C>G	ENSP00000500729.1:n.*4323C>G
ENST00000672647.1:n.4512C>G
ENST00000673058.2:c.6152C>G	ENSP00000500665.2:p.Ser2051Ter
ENST00000674889.1:n.3105C>G
ENST00000674971.1:c.6152C>G	ENSP00000502194.1:p.Ser2051Ter
ENST00000675230.1:c.6131C>G	ENSP00000502503.1:p.Ser2044Ter
ENST00000675408.1:c.6152C>G	ENSP00000502298.1:p.Ser2051Ter
ENST00000675476.1:c.7013C>G	ENSP00000502161.1:p.Ser2338Ter
ENST00000675628.1:n.6379C>G
ENST00000675794.1:c.*4323C>G	ENSP00000502841.1:n.*4323C>G
ENST00000675833.1:c.6920C>G	ENSP00000502559.1:p.Ser2307Ter
ENST00000675894.1:n.2457C>G
ENST00000676074.1:c.6152C>G	ENSP00000502079.1:p.Ser2051Ter
ENST00000676181.1:n.5080C>G
ENST00000676190.1:n.591C>G
ENST00000676363.1:n.11878C>G
XM_011538756.1:c.7022C>G	XP_011537058.1:p.Ser2341Ter
XM_011538756.3:c.7022C>G	XP_011537058.1:p.Ser2341Ter
XM_011538757.1:c.7022C>G	XP_011537059.1:p.Ser2341Ter
XM_011538757.3:c.7022C>G	XP_011537059.1:p.Ser2341Ter
XM_011538758.1:c.7019C>G	XP_011537060.1:p.Ser2340Ter
XM_011538758.3:c.7019C>G	XP_011537060.1:p.Ser2340Ter
XM_011538759.1:c.7013C>G	XP_011537061.1:p.Ser2338Ter
XM_011538759.2:c.7013C>G	XP_011537061.1:p.Ser2338Ter
XM_011538760.1:c.7022C>G	XP_011537062.1:p.Ser2341Ter
XM_011538760.2:c.7022C>G	XP_011537062.1:p.Ser2341Ter
XM_011538761.1:c.7022C>G	XP_011537063.1:p.Ser2341Ter
XM_011538761.2:c.7022C>G	XP_011537063.1:p.Ser2341Ter
XM_011538762.1:c.6254C>G	XP_011537064.1:p.Ser2085Ter
XM_011538762.3:c.6254C>G	XP_011537064.1:p.Ser2085Ter
XM_011538763.1:c.6161C>G	XP_011537065.1:p.Ser2054Ter
XM_011538763.3:c.6161C>G	XP_011537065.1:p.Ser2054Ter
XM_011538766.1:c.5483C>G	XP_011537068.1:p.Ser1828Ter
XM_011538766.3:c.5483C>G	XP_011537068.1:p.Ser1828Ter
XM_017019980.2:c.7013C>G	XP_016875469.1:p.Ser2338Ter
XM_017019981.2:c.7013C>G	XP_016875470.1:p.Ser2338Ter
XM_017019982.1:c.7022C>G	XP_016875471.1:p.Ser2341Ter
XM_017019983.2:c.6140C>G	XP_016875472.1:p.Ser2047Ter
XR_001748869.1:n.7357C>G
XR_001748870.2:n.7357C>G
XR_945163.1:n.967+7079G>C