Canonical Allele Identifier: CA385979630

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88064021A>G , CM000674.2:g.88064021A>G	GRCh38
NC_000012.11:g.88457798A>G , CM000674.1:g.88457798A>G	GRCh37
NC_000012.10:g.86981929A>G	NCBI36
NG_008417.1:g.83196T>C
NG_008417.2:g.83196T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.6239T>C	ENSP00000308021.8:p.Phe2080Ser
ENST00000547691.8:c.3514T>C
ENST00000552810.6:c.6230T>C MANE Select	ENSP00000448012.1:p.Phe2077Ser
ENST00000672414.2:c.*4401T>C	ENSP00000500729.1:n.*4401T>C
ENST00000672647.1:n.4590T>C
ENST00000673058.2:c.6230T>C	ENSP00000500665.2:p.Phe2077Ser
ENST00000674889.1:n.3183T>C
ENST00000674971.1:c.6230T>C	ENSP00000502194.1:p.Phe2077Ser
ENST00000675230.1:c.6209T>C	ENSP00000502503.1:p.Phe2070Ser
ENST00000675408.1:c.6230T>C	ENSP00000502298.1:p.Phe2077Ser
ENST00000675476.1:c.7091T>C	ENSP00000502161.1:p.Phe2364Ser
ENST00000675628.1:n.6457T>C
ENST00000675794.1:c.*4401T>C	ENSP00000502841.1:n.*4401T>C
ENST00000675833.1:c.6998T>C	ENSP00000502559.1:p.Phe2333Ser
ENST00000675894.1:n.2535T>C
ENST00000676074.1:c.6230T>C	ENSP00000502079.1:p.Phe2077Ser
ENST00000676181.1:n.5158T>C
ENST00000676190.1:n.669T>C
ENST00000676363.1:n.11956T>C
ENST00000309041.11:c.6236T>C	ENSP00000308021.7:p.Phe2079Ser
ENST00000547691.6:c.3410T>C	ENSP00000446905.1:p.Phe1137Ser
ENST00000552810.5:c.6230T>C	ENSP00000448012.1:p.Phe2077Ser
NM_025114.3:c.6230T>C	NP_079390.3:p.Phe2077Ser
XM_011538756.1:c.7100T>C	XP_011537058.1:p.Phe2367Ser
XM_011538757.1:c.7100T>C	XP_011537059.1:p.Phe2367Ser
XM_011538758.1:c.7097T>C	XP_011537060.1:p.Phe2366Ser
XM_011538759.1:c.7091T>C	XP_011537061.1:p.Phe2364Ser
XM_011538760.1:c.7100T>C	XP_011537062.1:p.Phe2367Ser
XM_011538761.1:c.7100T>C	XP_011537063.1:p.Phe2367Ser
XM_011538762.1:c.6332T>C	XP_011537064.1:p.Phe2111Ser
XM_011538763.1:c.6239T>C	XP_011537065.1:p.Phe2080Ser
XM_011538766.1:c.5561T>C	XP_011537068.1:p.Phe1854Ser
XR_945163.1:n.967+7001A>G
XM_011538756.3:c.7100T>C	XP_011537058.1:p.Phe2367Ser
XM_011538757.3:c.7100T>C	XP_011537059.1:p.Phe2367Ser
XM_011538758.3:c.7097T>C	XP_011537060.1:p.Phe2366Ser
XM_011538759.2:c.7091T>C	XP_011537061.1:p.Phe2364Ser
XM_011538760.2:c.7100T>C	XP_011537062.1:p.Phe2367Ser
XM_011538761.2:c.7100T>C	XP_011537063.1:p.Phe2367Ser
XM_011538762.3:c.6332T>C	XP_011537064.1:p.Phe2111Ser
XM_011538763.3:c.6239T>C	XP_011537065.1:p.Phe2080Ser
XM_011538766.3:c.5561T>C	XP_011537068.1:p.Phe1854Ser
XM_017019980.2:c.7091T>C	XP_016875469.1:p.Phe2364Ser
XM_017019981.2:c.7091T>C	XP_016875470.1:p.Phe2364Ser
XM_017019982.1:c.7100T>C	XP_016875471.1:p.Phe2367Ser
XM_017019983.2:c.6218T>C	XP_016875472.1:p.Phe2073Ser
XR_001748869.1:n.7435T>C
XR_001748870.2:n.7435T>C
NM_025114.4:c.6230T>C MANE Select	NP_079390.3:p.Phe2077Ser