Canonical Allele Identifier: CA6711362

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88053733G>A , CM000674.2:g.88053733G>A	GRCh38
NC_000012.11:g.88447510G>A , CM000674.1:g.88447510G>A	GRCh37
NC_000012.10:g.86971641G>A	NCBI36
NG_008417.1:g.93484C>T
NG_008417.2:g.93484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.7057C>T	ENSP00000308021.8:p.Gln2353Ter
ENST00000547691.8:c.4017C>T
ENST00000552810.6:c.7048C>T MANE Select	ENSP00000448012.1:p.Gln2350Ter
ENST00000671777.2:n.827C>T
ENST00000672414.2:c.*5054C>T	ENSP00000500729.1:n.*5054C>T
ENST00000672647.1:n.5408C>T
ENST00000673058.2:c.6925C>T	ENSP00000500665.2:p.Gln2309Ter
ENST00000674712.1:n.575C>T
ENST00000674889.1:n.4001C>T
ENST00000674971.1:c.*5C>T	ENSP00000502194.1:n.*5C>T
ENST00000675230.1:c.7027C>T	ENSP00000502503.1:p.Gln2343Ter
ENST00000675408.1:c.6883C>T	ENSP00000502298.1:p.Gln2295Ter
ENST00000675476.1:c.7909C>T	ENSP00000502161.1:p.Gln2637Ter
ENST00000675628.1:n.9030C>T
ENST00000675794.1:c.*5219C>T	ENSP00000502841.1:n.*5219C>T
ENST00000675833.1:c.7816C>T	ENSP00000502559.1:p.Gln2606Ter
ENST00000675894.1:n.3353C>T
ENST00000676074.1:c.*5C>T	ENSP00000502079.1:n.*5C>T
ENST00000676181.1:n.7731C>T
ENST00000676190.1:n.3242C>T
ENST00000676363.1:n.12774C>T
ENST00000309041.11:c.7054C>T	ENSP00000308021.7:p.Gln2352Ter
ENST00000547691.6:c.4228C>T	ENSP00000446905.1:p.Gln1410Ter
ENST00000552810.5:c.7048C>T	ENSP00000448012.1:p.Gln2350Ter
NM_025114.3:c.7048C>T	NP_079390.3:p.Gln2350Ter
XM_011538756.1:c.7918C>T	XP_011537058.1:p.Gln2640Ter
XM_011538757.1:c.7918C>T	XP_011537059.1:p.Gln2640Ter
XM_011538758.1:c.7915C>T	XP_011537060.1:p.Gln2639Ter
XM_011538759.1:c.7909C>T	XP_011537061.1:p.Gln2637Ter
XM_011538760.1:c.7795C>T	XP_011537062.1:p.Gln2599Ter
XM_011538761.1:c.7753C>T	XP_011537063.1:p.Gln2585Ter
XM_011538762.1:c.7150C>T	XP_011537064.1:p.Gln2384Ter
XM_011538763.1:c.7057C>T	XP_011537065.1:p.Gln2353Ter
XM_011538766.1:c.6379C>T	XP_011537068.1:p.Gln2127Ter
XM_011538756.3:c.7918C>T	XP_011537058.1:p.Gln2640Ter
XM_011538757.3:c.7918C>T	XP_011537059.1:p.Gln2640Ter
XM_011538758.3:c.7915C>T	XP_011537060.1:p.Gln2639Ter
XM_011538759.2:c.7909C>T	XP_011537061.1:p.Gln2637Ter
XM_011538760.2:c.7795C>T	XP_011537062.1:p.Gln2599Ter
XM_011538761.2:c.7753C>T	XP_011537063.1:p.Gln2585Ter
XM_011538762.3:c.7150C>T	XP_011537064.1:p.Gln2384Ter
XM_011538763.3:c.7057C>T	XP_011537065.1:p.Gln2353Ter
XM_011538766.3:c.6379C>T	XP_011537068.1:p.Gln2127Ter
XM_017019980.2:c.7786C>T	XP_016875469.1:p.Gln2596Ter
XM_017019981.2:c.7744C>T	XP_016875470.1:p.Gln2582Ter
XM_017019982.1:c.*5C>T	XP_016875471.1:n.*5C>T
XM_017019983.2:c.7036C>T	XP_016875472.1:p.Gln2346Ter
XR_001748869.1:n.8179C>T
XR_001748870.2:n.8014C>T
NM_025114.4:c.7048C>T MANE Select	NP_079390.3:p.Gln2350Ter