Canonical Allele Identifier: CA6711638

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88071822A>G , CM000674.2:g.88071822A>G	GRCh38
NC_000012.11:g.88465599A>G , CM000674.1:g.88465599A>G	GRCh37
NC_000012.10:g.86989730A>G	NCBI36
NG_008417.1:g.75395T>C
NG_008417.2:g.75395T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025114.4:c.5814T>C MANE Select	NP_079390.3:p.Thr1938=
ENST00000552810.6:c.5814T>C MANE Select	ENSP00000448012.1:p.Thr1938=
NM_025114.3:c.5814T>C	NP_079390.3:p.Thr1938=
ENST00000309041.11:c.5820T>C	ENSP00000308021.7:p.Thr1940=
ENST00000309041.12:c.5814T>C	ENSP00000308021.8:p.Thr1938=
ENST00000547691.6:c.2994T>C	ENSP00000446905.1:p.Thr998=
ENST00000547691.8:c.3098T>C
ENST00000552810.5:c.5814T>C	ENSP00000448012.1:p.Thr1938=
ENST00000672414.2:c.*3985T>C	ENSP00000500729.1:n.*3985T>C
ENST00000672647.1:n.4174T>C
ENST00000673058.2:c.5814T>C	ENSP00000500665.2:p.Thr1938=
ENST00000674971.1:c.5814T>C	ENSP00000502194.1:p.Thr1938=
ENST00000675230.1:c.5793T>C	ENSP00000502503.1:p.Thr1931=
ENST00000675408.1:c.5814T>C	ENSP00000502298.1:p.Thr1938=
ENST00000675476.1:c.6675T>C	ENSP00000502161.1:p.Thr2225=
ENST00000675628.1:n.6041T>C
ENST00000675794.1:c.*3985T>C	ENSP00000502841.1:n.*3985T>C
ENST00000675833.1:c.6582T>C	ENSP00000502559.1:p.Thr2194=
ENST00000675894.1:n.2119T>C
ENST00000676074.1:c.5814T>C	ENSP00000502079.1:p.Thr1938=
ENST00000676181.1:n.4742T>C
ENST00000676363.1:n.11540T>C
ENST00000676448.1:c.*3727T>C	ENSP00000501987.1:n.*3727T>C
XM_011538756.1:c.6675T>C	XP_011537058.1:p.Thr2225=
XM_011538756.3:c.6675T>C	XP_011537058.1:p.Thr2225=
XM_011538757.1:c.6675T>C	XP_011537059.1:p.Thr2225=
XM_011538757.3:c.6675T>C	XP_011537059.1:p.Thr2225=
XM_011538758.1:c.6675T>C	XP_011537060.1:p.Thr2225=
XM_011538758.3:c.6675T>C	XP_011537060.1:p.Thr2225=
XM_011538759.1:c.6675T>C	XP_011537061.1:p.Thr2225=
XM_011538759.2:c.6675T>C	XP_011537061.1:p.Thr2225=
XM_011538760.1:c.6675T>C	XP_011537062.1:p.Thr2225=
XM_011538760.2:c.6675T>C	XP_011537062.1:p.Thr2225=
XM_011538761.1:c.6675T>C	XP_011537063.1:p.Thr2225=
XM_011538761.2:c.6675T>C	XP_011537063.1:p.Thr2225=
XM_011538762.1:c.5907T>C	XP_011537064.1:p.Thr1969=
XM_011538762.3:c.5907T>C	XP_011537064.1:p.Thr1969=
XM_011538763.1:c.5814T>C	XP_011537065.1:p.Thr1938=
XM_011538763.3:c.5814T>C	XP_011537065.1:p.Thr1938=
XM_011538764.1:c.6675T>C	XP_011537066.1:p.Thr2225=
XM_011538764.3:c.6675T>C	XP_011537066.1:p.Thr2225=
XM_011538765.1:c.6675T>C	XP_011537067.1:p.Thr2225=
XM_011538765.3:c.6675T>C	XP_011537067.1:p.Thr2225=
XM_011538766.1:c.5136T>C	XP_011537068.1:p.Thr1712=
XM_011538766.3:c.5136T>C	XP_011537068.1:p.Thr1712=
XM_017019980.2:c.6675T>C	XP_016875469.1:p.Thr2225=
XM_017019981.2:c.6675T>C	XP_016875470.1:p.Thr2225=
XM_017019982.1:c.6675T>C	XP_016875471.1:p.Thr2225=
XM_017019983.2:c.5793T>C	XP_016875472.1:p.Thr1931=
XR_001748869.1:n.7019T>C
XR_001748870.2:n.7019T>C
XR_945163.1:n.968-10491A>G