Canonical Allele Identifier: CA386006370

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88093912G>T , CM000674.2:g.88093912G>T	GRCh38
NC_000012.11:g.88487689G>T , CM000674.1:g.88487689G>T	GRCh37
NC_000012.10:g.87011820G>T	NCBI36
NG_008417.1:g.53305C>A
NG_008417.2:g.53305C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025114.4:c.3167C>A MANE Select	NP_079390.3:p.Ser1056Ter
ENST00000552810.6:c.3167C>A MANE Select	ENSP00000448012.1:p.Ser1056Ter
NM_025114.3:c.3167C>A	NP_079390.3:p.Ser1056Ter
ENST00000309041.11:c.3173C>A	ENSP00000308021.7:p.Ser1058Ter
ENST00000309041.12:c.3167C>A	ENSP00000308021.8:p.Ser1056Ter
ENST00000547691.6:c.347C>A	ENSP00000446905.1:p.Ser116Ter
ENST00000547691.8:c.451C>A
ENST00000552810.5:c.3167C>A	ENSP00000448012.1:p.Ser1056Ter
ENST00000604024.5:c.2426C>A	ENSP00000473863.1:p.Ser809Ter
ENST00000672414.2:c.*1338C>A	ENSP00000500729.1:n.*1338C>A
ENST00000672647.1:n.1527C>A
ENST00000673058.2:c.3167C>A	ENSP00000500665.2:p.Ser1056Ter
ENST00000674971.1:c.3167C>A	ENSP00000502194.1:p.Ser1056Ter
ENST00000675089.1:c.286+2976C>A	ENSP00000501582.1:n.286+2976C>A
ENST00000675230.1:c.3146C>A	ENSP00000502503.1:p.Ser1049Ter
ENST00000675408.1:c.3167C>A	ENSP00000502298.1:p.Ser1056Ter
ENST00000675476.1:c.4028C>A	ENSP00000502161.1:p.Ser1343Ter
ENST00000675628.1:n.3394C>A
ENST00000675794.1:c.*1338C>A	ENSP00000502841.1:n.*1338C>A
ENST00000675833.1:c.3935C>A	ENSP00000502559.1:p.Ser1312Ter
ENST00000676074.1:c.3167C>A	ENSP00000502079.1:p.Ser1056Ter
ENST00000676181.1:n.855C>A
ENST00000676363.1:n.8893C>A
ENST00000676448.1:c.*1080C>A	ENSP00000501987.1:n.*1080C>A
XM_011538756.1:c.4028C>A	XP_011537058.1:p.Ser1343Ter
XM_011538756.3:c.4028C>A	XP_011537058.1:p.Ser1343Ter
XM_011538757.1:c.4028C>A	XP_011537059.1:p.Ser1343Ter
XM_011538757.3:c.4028C>A	XP_011537059.1:p.Ser1343Ter
XM_011538758.1:c.4028C>A	XP_011537060.1:p.Ser1343Ter
XM_011538758.3:c.4028C>A	XP_011537060.1:p.Ser1343Ter
XM_011538759.1:c.4028C>A	XP_011537061.1:p.Ser1343Ter
XM_011538759.2:c.4028C>A	XP_011537061.1:p.Ser1343Ter
XM_011538760.1:c.4028C>A	XP_011537062.1:p.Ser1343Ter
XM_011538760.2:c.4028C>A	XP_011537062.1:p.Ser1343Ter
XM_011538761.1:c.4028C>A	XP_011537063.1:p.Ser1343Ter
XM_011538761.2:c.4028C>A	XP_011537063.1:p.Ser1343Ter
XM_011538762.1:c.3260C>A	XP_011537064.1:p.Ser1087Ter
XM_011538762.3:c.3260C>A	XP_011537064.1:p.Ser1087Ter
XM_011538763.1:c.3167C>A	XP_011537065.1:p.Ser1056Ter
XM_011538763.3:c.3167C>A	XP_011537065.1:p.Ser1056Ter
XM_011538764.1:c.4028C>A	XP_011537066.1:p.Ser1343Ter
XM_011538764.3:c.4028C>A	XP_011537066.1:p.Ser1343Ter
XM_011538765.1:c.4028C>A	XP_011537067.1:p.Ser1343Ter
XM_011538765.3:c.4028C>A	XP_011537067.1:p.Ser1343Ter
XM_011538766.1:c.2489C>A	XP_011537068.1:p.Ser830Ter
XM_011538766.3:c.2489C>A	XP_011537068.1:p.Ser830Ter
XM_017019980.2:c.4028C>A	XP_016875469.1:p.Ser1343Ter
XM_017019981.2:c.4028C>A	XP_016875470.1:p.Ser1343Ter
XM_017019982.1:c.4028C>A	XP_016875471.1:p.Ser1343Ter
XM_017019983.2:c.3146C>A	XP_016875472.1:p.Ser1049Ter
XR_001748869.1:n.4372C>A
XR_001748870.2:n.4372C>A