Canonical Allele Identifier: CA385977433

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88058918A>G , CM000674.2:g.88058918A>G	GRCh38
NC_000012.11:g.88452695A>G , CM000674.1:g.88452695A>G	GRCh37
NC_000012.10:g.86976826A>G	NCBI36
NG_008417.1:g.88299T>C
NG_008417.2:g.88299T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025114.4:c.6748T>C MANE Select	NP_079390.3:p.Phe2250Leu
ENST00000552810.6:c.6748T>C MANE Select	ENSP00000448012.1:p.Phe2250Leu
NM_025114.3:c.6748T>C	NP_079390.3:p.Phe2250Leu
ENST00000309041.11:c.6754T>C	ENSP00000308021.7:p.Phe2252Leu
ENST00000309041.12:c.6757T>C	ENSP00000308021.8:p.Phe2253Leu
ENST00000547691.6:c.3928T>C	ENSP00000446905.1:p.Phe1310Leu
ENST00000547691.8:c.3929+980T>C
ENST00000552810.5:c.6748T>C	ENSP00000448012.1:p.Phe2250Leu
ENST00000671777.2:n.527T>C
ENST00000672414.2:c.*4754T>C	ENSP00000500729.1:n.*4754T>C
ENST00000672647.1:n.5108T>C
ENST00000673058.2:c.6625T>C	ENSP00000500665.2:p.Phe2209Leu
ENST00000674712.1:n.275T>C
ENST00000674889.1:n.3701T>C
ENST00000674971.1:c.6748T>C	ENSP00000502194.1:p.Phe2250Leu
ENST00000675230.1:c.6727T>C	ENSP00000502503.1:p.Phe2243Leu
ENST00000675408.1:c.6583T>C	ENSP00000502298.1:p.Phe2195Leu
ENST00000675476.1:c.7609T>C	ENSP00000502161.1:p.Phe2537Leu
ENST00000675628.1:n.6975T>C
ENST00000675794.1:c.*4919T>C	ENSP00000502841.1:n.*4919T>C
ENST00000675833.1:c.7516T>C	ENSP00000502559.1:p.Phe2506Leu
ENST00000675894.1:n.3053T>C
ENST00000676074.1:c.6583T>C	ENSP00000502079.1:p.Phe2195Leu
ENST00000676181.1:n.5676T>C
ENST00000676190.1:n.1187T>C
ENST00000676363.1:n.12474T>C
XM_011538756.1:c.7618T>C	XP_011537058.1:p.Phe2540Leu
XM_011538756.3:c.7618T>C	XP_011537058.1:p.Phe2540Leu
XM_011538757.1:c.7618T>C	XP_011537059.1:p.Phe2540Leu
XM_011538757.3:c.7618T>C	XP_011537059.1:p.Phe2540Leu
XM_011538758.1:c.7615T>C	XP_011537060.1:p.Phe2539Leu
XM_011538758.3:c.7615T>C	XP_011537060.1:p.Phe2539Leu
XM_011538759.1:c.7609T>C	XP_011537061.1:p.Phe2537Leu
XM_011538759.2:c.7609T>C	XP_011537061.1:p.Phe2537Leu
XM_011538760.1:c.7495T>C	XP_011537062.1:p.Phe2499Leu
XM_011538760.2:c.7495T>C	XP_011537062.1:p.Phe2499Leu
XM_011538761.1:c.7453T>C	XP_011537063.1:p.Phe2485Leu
XM_011538761.2:c.7453T>C	XP_011537063.1:p.Phe2485Leu
XM_011538762.1:c.6850T>C	XP_011537064.1:p.Phe2284Leu
XM_011538762.3:c.6850T>C	XP_011537064.1:p.Phe2284Leu
XM_011538763.1:c.6757T>C	XP_011537065.1:p.Phe2253Leu
XM_011538763.3:c.6757T>C	XP_011537065.1:p.Phe2253Leu
XM_011538766.1:c.6079T>C	XP_011537068.1:p.Phe2027Leu
XM_011538766.3:c.6079T>C	XP_011537068.1:p.Phe2027Leu
XM_017019980.2:c.7486T>C	XP_016875469.1:p.Phe2496Leu
XM_017019981.2:c.7444T>C	XP_016875470.1:p.Phe2482Leu
XM_017019982.1:c.7618T>C	XP_016875471.1:p.Phe2540Leu
XM_017019983.2:c.6736T>C	XP_016875472.1:p.Phe2246Leu
XR_001748869.1:n.7953T>C
XR_001748870.2:n.7788T>C
XR_945163.1:n.967+1898A>G