Canonical Allele Identifier: CA6712356

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88111263A>G , CM000674.2:g.88111263A>G	GRCh38
NC_000012.11:g.88505040A>G , CM000674.1:g.88505040A>G	GRCh37
NC_000012.10:g.87029171A>G	NCBI36
NG_008417.1:g.35954T>C
NG_008417.2:g.35954T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025114.4:c.2306T>C MANE Select	NP_079390.3:p.Ile769Thr
ENST00000552810.6:c.2306T>C MANE Select	ENSP00000448012.1:p.Ile769Thr
NM_025114.3:c.2306T>C	NP_079390.3:p.Ile769Thr
ENST00000309041.11:c.2312T>C	ENSP00000308021.7:p.Ile771Thr
ENST00000309041.12:c.2306T>C	ENSP00000308021.8:p.Ile769Thr
ENST00000397838.7:c.2312T>C	ENSP00000380938.4:p.Ile771Thr
ENST00000547926.6:c.2061T>C	ENSP00000448573.2:n.2061T>C
ENST00000547926.7:c.*215T>C	ENSP00000448573.3:n.*215T>C
ENST00000552810.5:c.2306T>C	ENSP00000448012.1:p.Ile769Thr
ENST00000604024.5:c.1565T>C	ENSP00000473863.1:p.Ile522Thr
ENST00000672414.2:c.*477T>C	ENSP00000500729.1:n.*477T>C
ENST00000673058.2:c.2306T>C	ENSP00000500665.2:p.Ile769Thr
ENST00000674971.1:c.2306T>C	ENSP00000502194.1:p.Ile769Thr
ENST00000675230.1:c.2285T>C	ENSP00000502503.1:p.Ile762Thr
ENST00000675408.1:c.2306T>C	ENSP00000502298.1:p.Ile769Thr
ENST00000675476.1:c.3167T>C	ENSP00000502161.1:p.Ile1056Thr
ENST00000675628.1:n.2533T>C
ENST00000675794.1:c.*477T>C	ENSP00000502841.1:n.*477T>C
ENST00000675833.1:c.3074T>C	ENSP00000502559.1:p.Ile1025Thr
ENST00000676074.1:c.2306T>C	ENSP00000502079.1:p.Ile769Thr
ENST00000676363.1:n.4369T>C
ENST00000676448.1:c.*219T>C	ENSP00000501987.1:n.*219T>C
XM_011538756.1:c.3167T>C	XP_011537058.1:p.Ile1056Thr
XM_011538756.3:c.3167T>C	XP_011537058.1:p.Ile1056Thr
XM_011538757.1:c.3167T>C	XP_011537059.1:p.Ile1056Thr
XM_011538757.3:c.3167T>C	XP_011537059.1:p.Ile1056Thr
XM_011538758.1:c.3167T>C	XP_011537060.1:p.Ile1056Thr
XM_011538758.3:c.3167T>C	XP_011537060.1:p.Ile1056Thr
XM_011538759.1:c.3167T>C	XP_011537061.1:p.Ile1056Thr
XM_011538759.2:c.3167T>C	XP_011537061.1:p.Ile1056Thr
XM_011538760.1:c.3167T>C	XP_011537062.1:p.Ile1056Thr
XM_011538760.2:c.3167T>C	XP_011537062.1:p.Ile1056Thr
XM_011538761.1:c.3167T>C	XP_011537063.1:p.Ile1056Thr
XM_011538761.2:c.3167T>C	XP_011537063.1:p.Ile1056Thr
XM_011538762.1:c.2399T>C	XP_011537064.1:p.Ile800Thr
XM_011538762.3:c.2399T>C	XP_011537064.1:p.Ile800Thr
XM_011538763.1:c.2306T>C	XP_011537065.1:p.Ile769Thr
XM_011538763.3:c.2306T>C	XP_011537065.1:p.Ile769Thr
XM_011538764.1:c.3167T>C	XP_011537066.1:p.Ile1056Thr
XM_011538764.3:c.3167T>C	XP_011537066.1:p.Ile1056Thr
XM_011538765.1:c.3167T>C	XP_011537067.1:p.Ile1056Thr
XM_011538765.3:c.3167T>C	XP_011537067.1:p.Ile1056Thr
XM_011538766.1:c.1628T>C	XP_011537068.1:p.Ile543Thr
XM_011538766.3:c.1628T>C	XP_011537068.1:p.Ile543Thr
XM_017019980.2:c.3167T>C	XP_016875469.1:p.Ile1056Thr
XM_017019981.2:c.3167T>C	XP_016875470.1:p.Ile1056Thr
XM_017019982.1:c.3167T>C	XP_016875471.1:p.Ile1056Thr
XM_017019983.2:c.2285T>C	XP_016875472.1:p.Ile762Thr
XR_001748869.1:n.3511T>C
XR_001748870.2:n.3511T>C