Canonical Allele Identifier: CA385976661

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88055700A>T , CM000674.2:g.88055700A>T	GRCh38
NC_000012.11:g.88449477A>T , CM000674.1:g.88449477A>T	GRCh37
NC_000012.10:g.86973608A>T	NCBI36
NG_008417.1:g.91517T>A
NG_008417.2:g.91517T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025114.4:c.6836T>A MANE Select	NP_079390.3:p.Leu2279Ter
ENST00000552810.6:c.6836T>A MANE Select	ENSP00000448012.1:p.Leu2279Ter
NM_025114.3:c.6836T>A	NP_079390.3:p.Leu2279Ter
ENST00000309041.11:c.6842T>A	ENSP00000308021.7:p.Leu2281Ter
ENST00000309041.12:c.6845T>A	ENSP00000308021.8:p.Leu2282Ter
ENST00000547691.6:c.4016T>A	ENSP00000446905.1:p.Leu1339Ter
ENST00000547691.8:c.3930-1287T>A
ENST00000552810.5:c.6836T>A	ENSP00000448012.1:p.Leu2279Ter
ENST00000671777.2:n.615T>A
ENST00000672414.2:c.*4842T>A	ENSP00000500729.1:n.*4842T>A
ENST00000672647.1:n.5196T>A
ENST00000673058.2:c.6713T>A	ENSP00000500665.2:p.Leu2238Ter
ENST00000674712.1:n.363T>A
ENST00000674889.1:n.3789T>A
ENST00000674971.1:c.6836T>A	ENSP00000502194.1:p.Leu2279Ter
ENST00000675230.1:c.6815T>A	ENSP00000502503.1:p.Leu2272Ter
ENST00000675408.1:c.6671T>A	ENSP00000502298.1:p.Leu2224Ter
ENST00000675476.1:c.7697T>A	ENSP00000502161.1:p.Leu2566Ter
ENST00000675628.1:n.7063T>A
ENST00000675794.1:c.*5007T>A	ENSP00000502841.1:n.*5007T>A
ENST00000675833.1:c.7604T>A	ENSP00000502559.1:p.Leu2535Ter
ENST00000675894.1:n.3141T>A
ENST00000676074.1:c.6671T>A	ENSP00000502079.1:p.Leu2224Ter
ENST00000676181.1:n.5764T>A
ENST00000676190.1:n.1275T>A
ENST00000676363.1:n.12562T>A
XM_011538756.1:c.7706T>A	XP_011537058.1:p.Leu2569Ter
XM_011538756.3:c.7706T>A	XP_011537058.1:p.Leu2569Ter
XM_011538757.1:c.7706T>A	XP_011537059.1:p.Leu2569Ter
XM_011538757.3:c.7706T>A	XP_011537059.1:p.Leu2569Ter
XM_011538758.1:c.7703T>A	XP_011537060.1:p.Leu2568Ter
XM_011538758.3:c.7703T>A	XP_011537060.1:p.Leu2568Ter
XM_011538759.1:c.7697T>A	XP_011537061.1:p.Leu2566Ter
XM_011538759.2:c.7697T>A	XP_011537061.1:p.Leu2566Ter
XM_011538760.1:c.7583T>A	XP_011537062.1:p.Leu2528Ter
XM_011538760.2:c.7583T>A	XP_011537062.1:p.Leu2528Ter
XM_011538761.1:c.7541T>A	XP_011537063.1:p.Leu2514Ter
XM_011538761.2:c.7541T>A	XP_011537063.1:p.Leu2514Ter
XM_011538762.1:c.6938T>A	XP_011537064.1:p.Leu2313Ter
XM_011538762.3:c.6938T>A	XP_011537064.1:p.Leu2313Ter
XM_011538763.1:c.6845T>A	XP_011537065.1:p.Leu2282Ter
XM_011538763.3:c.6845T>A	XP_011537065.1:p.Leu2282Ter
XM_011538766.1:c.6167T>A	XP_011537068.1:p.Leu2056Ter
XM_011538766.3:c.6167T>A	XP_011537068.1:p.Leu2056Ter
XM_017019980.2:c.7574T>A	XP_016875469.1:p.Leu2525Ter
XM_017019981.2:c.7532T>A	XP_016875470.1:p.Leu2511Ter
XM_017019982.1:c.7706T>A	XP_016875471.1:p.Leu2569Ter
XM_017019983.2:c.6824T>A	XP_016875472.1:p.Leu2275Ter
XR_001748869.1:n.8041T>A
XR_001748870.2:n.7876T>A
XR_945163.1:n.853+428A>T