Canonical Allele Identifier: CA385979421

Gene: CEP290

Linked Data

• MyVariant Identifiers: chr12:g.88456552G>C (hg19) ; chr12:g.88062775G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88062775G>C , CM000674.2:g.88062775G>C	GRCh38
NC_000012.11:g.88456552G>C , CM000674.1:g.88456552G>C	GRCh37
NC_000012.10:g.86980683G>C	NCBI36
NG_008417.1:g.84442C>G
NG_008417.2:g.84442C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000309041.12:c.6283C>G	ENSP00000308021.8:p.Gln2095Glu
ENST00000547691.8:c.3558C>G
ENST00000552810.6:c.6274C>G MANE Select	ENSP00000448012.1:p.Gln2092Glu
ENST00000672414.2:c.*4445C>G	ENSP00000500729.1:n.*4445C>G
ENST00000672647.1:n.4634C>G
ENST00000673058.2:c.6274C>G	ENSP00000500665.2:p.Gln2092Glu
ENST00000674889.1:n.3227C>G
ENST00000674971.1:c.6274C>G	ENSP00000502194.1:p.Gln2092Glu
ENST00000675230.1:c.6253C>G	ENSP00000502503.1:p.Gln2085Glu
ENST00000675408.1:c.6274C>G	ENSP00000502298.1:p.Gln2092Glu
ENST00000675476.1:c.7135C>G	ENSP00000502161.1:p.Gln2379Glu
ENST00000675628.1:n.6501C>G
ENST00000675794.1:c.*4445C>G	ENSP00000502841.1:n.*4445C>G
ENST00000675833.1:c.7042C>G	ENSP00000502559.1:p.Gln2348Glu
ENST00000675894.1:n.2579C>G
ENST00000676074.1:c.6274C>G	ENSP00000502079.1:p.Gln2092Glu
ENST00000676181.1:n.5202C>G
ENST00000676190.1:n.713C>G
ENST00000676363.1:n.12000C>G
ENST00000309041.11:c.6280C>G	ENSP00000308021.7:p.Gln2094Glu
ENST00000547691.6:c.3454C>G	ENSP00000446905.1:p.Gln1152Glu
ENST00000552810.5:c.6274C>G	ENSP00000448012.1:p.Gln2092Glu
NM_025114.3:c.6274C>G	NP_079390.3:p.Gln2092Glu
XM_011538756.1:c.7144C>G	XP_011537058.1:p.Gln2382Glu
XM_011538757.1:c.7144C>G	XP_011537059.1:p.Gln2382Glu
XM_011538758.1:c.7141C>G	XP_011537060.1:p.Gln2381Glu
XM_011538759.1:c.7135C>G	XP_011537061.1:p.Gln2379Glu
XM_011538760.1:c.7144C>G	XP_011537062.1:p.Gln2382Glu
XM_011538761.1:c.7144C>G	XP_011537063.1:p.Gln2382Glu
XM_011538762.1:c.6376C>G	XP_011537064.1:p.Gln2126Glu
XM_011538763.1:c.6283C>G	XP_011537065.1:p.Gln2095Glu
XM_011538766.1:c.5605C>G	XP_011537068.1:p.Gln1869Glu
XR_945163.1:n.967+5755G>C
XM_011538756.3:c.7144C>G	XP_011537058.1:p.Gln2382Glu
XM_011538757.3:c.7144C>G	XP_011537059.1:p.Gln2382Glu
XM_011538758.3:c.7141C>G	XP_011537060.1:p.Gln2381Glu
XM_011538759.2:c.7135C>G	XP_011537061.1:p.Gln2379Glu
XM_011538760.2:c.7144C>G	XP_011537062.1:p.Gln2382Glu
XM_011538761.2:c.7144C>G	XP_011537063.1:p.Gln2382Glu
XM_011538762.3:c.6376C>G	XP_011537064.1:p.Gln2126Glu
XM_011538763.3:c.6283C>G	XP_011537065.1:p.Gln2095Glu
XM_011538766.3:c.5605C>G	XP_011537068.1:p.Gln1869Glu
XM_017019980.2:c.7135C>G	XP_016875469.1:p.Gln2379Glu
XM_017019981.2:c.7135C>G	XP_016875470.1:p.Gln2379Glu
XM_017019982.1:c.7144C>G	XP_016875471.1:p.Gln2382Glu
XM_017019983.2:c.6262C>G	XP_016875472.1:p.Gln2088Glu
XR_001748869.1:n.7479C>G
XR_001748870.2:n.7479C>G
NM_025114.4:c.6274C>G MANE Select	NP_079390.3:p.Gln2092Glu