Canonical Allele Identifier: CA385979409

Gene: CEP290

Linked Data

• gnomAD v4: 12-88062773-T-A
• MyVariant Identifiers: chr12:g.88456550T>A (hg19) ; chr12:g.88062773T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88062773T>A , CM000674.2:g.88062773T>A	GRCh38
NC_000012.11:g.88456550T>A , CM000674.1:g.88456550T>A	GRCh37
NC_000012.10:g.86980681T>A	NCBI36
NG_008417.1:g.84444A>T
NG_008417.2:g.84444A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.6285A>T	ENSP00000308021.8:p.Gln2095His
ENST00000547691.8:c.3560A>T
ENST00000552810.6:c.6276A>T MANE Select	ENSP00000448012.1:p.Gln2092His
ENST00000672414.2:c.*4447A>T	ENSP00000500729.1:n.*4447A>T
ENST00000672647.1:n.4636A>T
ENST00000673058.2:c.6276A>T	ENSP00000500665.2:p.Gln2092His
ENST00000674889.1:n.3229A>T
ENST00000674971.1:c.6276A>T	ENSP00000502194.1:p.Gln2092His
ENST00000675230.1:c.6255A>T	ENSP00000502503.1:p.Gln2085His
ENST00000675408.1:c.6276A>T	ENSP00000502298.1:p.Gln2092His
ENST00000675476.1:c.7137A>T	ENSP00000502161.1:p.Gln2379His
ENST00000675628.1:n.6503A>T
ENST00000675794.1:c.*4447A>T	ENSP00000502841.1:n.*4447A>T
ENST00000675833.1:c.7044A>T	ENSP00000502559.1:p.Gln2348His
ENST00000675894.1:n.2581A>T
ENST00000676074.1:c.6276A>T	ENSP00000502079.1:p.Gln2092His
ENST00000676181.1:n.5204A>T
ENST00000676190.1:n.715A>T
ENST00000676363.1:n.12002A>T
ENST00000309041.11:c.6282A>T	ENSP00000308021.7:p.Gln2094His
ENST00000547691.6:c.3456A>T	ENSP00000446905.1:p.Gln1152His
ENST00000552810.5:c.6276A>T	ENSP00000448012.1:p.Gln2092His
NM_025114.3:c.6276A>T	NP_079390.3:p.Gln2092His
XM_011538756.1:c.7146A>T	XP_011537058.1:p.Gln2382His
XM_011538757.1:c.7146A>T	XP_011537059.1:p.Gln2382His
XM_011538758.1:c.7143A>T	XP_011537060.1:p.Gln2381His
XM_011538759.1:c.7137A>T	XP_011537061.1:p.Gln2379His
XM_011538760.1:c.7146A>T	XP_011537062.1:p.Gln2382His
XM_011538761.1:c.7146A>T	XP_011537063.1:p.Gln2382His
XM_011538762.1:c.6378A>T	XP_011537064.1:p.Gln2126His
XM_011538763.1:c.6285A>T	XP_011537065.1:p.Gln2095His
XM_011538766.1:c.5607A>T	XP_011537068.1:p.Gln1869His
XR_945163.1:n.967+5753T>A
XM_011538756.3:c.7146A>T	XP_011537058.1:p.Gln2382His
XM_011538757.3:c.7146A>T	XP_011537059.1:p.Gln2382His
XM_011538758.3:c.7143A>T	XP_011537060.1:p.Gln2381His
XM_011538759.2:c.7137A>T	XP_011537061.1:p.Gln2379His
XM_011538760.2:c.7146A>T	XP_011537062.1:p.Gln2382His
XM_011538761.2:c.7146A>T	XP_011537063.1:p.Gln2382His
XM_011538762.3:c.6378A>T	XP_011537064.1:p.Gln2126His
XM_011538763.3:c.6285A>T	XP_011537065.1:p.Gln2095His
XM_011538766.3:c.5607A>T	XP_011537068.1:p.Gln1869His
XM_017019980.2:c.7137A>T	XP_016875469.1:p.Gln2379His
XM_017019981.2:c.7137A>T	XP_016875470.1:p.Gln2379His
XM_017019982.1:c.7146A>T	XP_016875471.1:p.Gln2382His
XM_017019983.2:c.6264A>T	XP_016875472.1:p.Gln2088His
XR_001748869.1:n.7481A>T
XR_001748870.2:n.7481A>T
NM_025114.4:c.6276A>T MANE Select	NP_079390.3:p.Gln2092His