Canonical Allele Identifier: CA481071572

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88068590T>G , CM000674.2:g.88068590T>G	GRCh38
NC_000012.11:g.88462367T>G , CM000674.1:g.88462367T>G	GRCh37
NC_000012.10:g.86986498T>G	NCBI36
NG_008417.1:g.78627A>C
NG_008417.2:g.78627A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025114.4:c.6067A>C MANE Select	NP_079390.3:p.Arg2023=
ENST00000552810.6:c.6067A>C MANE Select	ENSP00000448012.1:p.Arg2023=
NM_025114.3:c.6067A>C	NP_079390.3:p.Arg2023=
ENST00000309041.11:c.6073A>C	ENSP00000308021.7:p.Arg2025=
ENST00000309041.12:c.6067A>C	ENSP00000308021.8:p.Arg2023=
ENST00000547691.6:c.3247A>C	ENSP00000446905.1:p.Arg1083=
ENST00000547691.8:c.3351A>C
ENST00000552810.5:c.6067A>C	ENSP00000448012.1:p.Arg2023=
ENST00000672414.2:c.*4238A>C	ENSP00000500729.1:n.*4238A>C
ENST00000672647.1:n.4427A>C
ENST00000673058.2:c.6067A>C	ENSP00000500665.2:p.Arg2023=
ENST00000674971.1:c.6067A>C	ENSP00000502194.1:p.Arg2023=
ENST00000675230.1:c.6046A>C	ENSP00000502503.1:p.Arg2016=
ENST00000675408.1:c.6067A>C	ENSP00000502298.1:p.Arg2023=
ENST00000675476.1:c.6928A>C	ENSP00000502161.1:p.Arg2310=
ENST00000675628.1:n.6294A>C
ENST00000675794.1:c.*4238A>C	ENSP00000502841.1:n.*4238A>C
ENST00000675833.1:c.6835A>C	ENSP00000502559.1:p.Arg2279=
ENST00000675894.1:n.2372A>C
ENST00000676074.1:c.6067A>C	ENSP00000502079.1:p.Arg2023=
ENST00000676181.1:n.4995A>C
ENST00000676190.1:n.506A>C
ENST00000676363.1:n.11793A>C
ENST00000676448.1:c.*3980A>C	ENSP00000501987.1:n.*3980A>C
XM_011538756.1:c.6928A>C	XP_011537058.1:p.Arg2310=
XM_011538756.3:c.6928A>C	XP_011537058.1:p.Arg2310=
XM_011538757.1:c.6928A>C	XP_011537059.1:p.Arg2310=
XM_011538757.3:c.6928A>C	XP_011537059.1:p.Arg2310=
XM_011538758.1:c.6928A>C	XP_011537060.1:p.Arg2310=
XM_011538758.3:c.6928A>C	XP_011537060.1:p.Arg2310=
XM_011538759.1:c.6928A>C	XP_011537061.1:p.Arg2310=
XM_011538759.2:c.6928A>C	XP_011537061.1:p.Arg2310=
XM_011538760.1:c.6928A>C	XP_011537062.1:p.Arg2310=
XM_011538760.2:c.6928A>C	XP_011537062.1:p.Arg2310=
XM_011538761.1:c.6928A>C	XP_011537063.1:p.Arg2310=
XM_011538761.2:c.6928A>C	XP_011537063.1:p.Arg2310=
XM_011538762.1:c.6160A>C	XP_011537064.1:p.Arg2054=
XM_011538762.3:c.6160A>C	XP_011537064.1:p.Arg2054=
XM_011538763.1:c.6067A>C	XP_011537065.1:p.Arg2023=
XM_011538763.3:c.6067A>C	XP_011537065.1:p.Arg2023=
XM_011538764.1:c.6928A>C	XP_011537066.1:p.Arg2310=
XM_011538764.3:c.6928A>C	XP_011537066.1:p.Arg2310=
XM_011538765.1:c.6928A>C	XP_011537067.1:p.Arg2310=
XM_011538765.3:c.6928A>C	XP_011537067.1:p.Arg2310=
XM_011538766.1:c.5389A>C	XP_011537068.1:p.Arg1797=
XM_011538766.3:c.5389A>C	XP_011537068.1:p.Arg1797=
XM_017019980.2:c.6928A>C	XP_016875469.1:p.Arg2310=
XM_017019981.2:c.6928A>C	XP_016875470.1:p.Arg2310=
XM_017019982.1:c.6928A>C	XP_016875471.1:p.Arg2310=
XM_017019983.2:c.6046A>C	XP_016875472.1:p.Arg2016=
XR_001748869.1:n.7272A>C
XR_001748870.2:n.7272A>C
XR_945163.1:n.967+11570T>G