Canonical Allele Identifier: CA16619601

Gene: CEP290

Linked Data

• ClinVar Variation Id: 423910
• ClinVar RCV Id: RCV000485299 ; RCV001070331
• dbSNP Id: rs766952056
• MyVariant Identifiers: chr12:g.88486457C>T (hg19) ; chr12:g.88092680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88092680C>T , CM000674.2:g.88092680C>T	GRCh38
NC_000012.11:g.88486457C>T , CM000674.1:g.88486457C>T	GRCh37
NC_000012.10:g.87010588C>T	NCBI36
NG_008417.1:g.54537G>A
NG_008417.2:g.54537G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.3461+1G>A	ENSP00000308021.8:n.3461+1G>A
ENST00000547691.8:c.745+1G>A
ENST00000552810.6:c.3461+1G>A MANE Select	ENSP00000448012.1:n.3461+1G>A
ENST00000672414.2:c.*1632+1G>A	ENSP00000500729.1:n.*1632+1G>A
ENST00000672647.1:n.1821+1G>A
ENST00000673058.2:c.3461+1G>A	ENSP00000500665.2:n.3461+1G>A
ENST00000674971.1:c.3461+1G>A	ENSP00000502194.1:n.3461+1G>A
ENST00000675089.1:c.287-1841G>A	ENSP00000501582.1:n.287-1841G>A
ENST00000675230.1:c.3440+1G>A	ENSP00000502503.1:n.3440+1G>A
ENST00000675408.1:c.3461+1G>A	ENSP00000502298.1:n.3461+1G>A
ENST00000675476.1:c.4322+1G>A	ENSP00000502161.1:n.4322+1G>A
ENST00000675628.1:n.3688+1G>A
ENST00000675794.1:c.*1632+1G>A	ENSP00000502841.1:n.*1632+1G>A
ENST00000675833.1:c.4229+1G>A	ENSP00000502559.1:n.4229+1G>A
ENST00000676074.1:c.3461+1G>A	ENSP00000502079.1:n.3461+1G>A
ENST00000676181.1:n.1149+1G>A
ENST00000676363.1:n.9187+1G>A
ENST00000676448.1:c.*1374+1G>A	ENSP00000501987.1:n.*1374+1G>A
ENST00000309041.11:c.3467+1G>A	ENSP00000308021.7:n.3467+1G>A
ENST00000547691.6:c.641+1G>A	ENSP00000446905.1:n.641+1G>A
ENST00000552810.5:c.3461+1G>A	ENSP00000448012.1:n.3461+1G>A
NM_025114.3:c.3461+1G>A	NP_079390.3:n.3461+1G>A
XM_011538756.1:c.4322+1G>A	XP_011537058.1:n.4322+1G>A
XM_011538757.1:c.4322+1G>A	XP_011537059.1:n.4322+1G>A
XM_011538758.1:c.4322+1G>A	XP_011537060.1:n.4322+1G>A
XM_011538759.1:c.4322+1G>A	XP_011537061.1:n.4322+1G>A
XM_011538760.1:c.4322+1G>A	XP_011537062.1:n.4322+1G>A
XM_011538761.1:c.4322+1G>A	XP_011537063.1:n.4322+1G>A
XM_011538762.1:c.3554+1G>A	XP_011537064.1:n.3554+1G>A
XM_011538763.1:c.3461+1G>A	XP_011537065.1:n.3461+1G>A
XM_011538764.1:c.4322+1G>A	XP_011537066.1:n.4322+1G>A
XM_011538765.1:c.4322+1G>A	XP_011537067.1:n.4322+1G>A
XM_011538766.1:c.2783+1G>A	XP_011537068.1:n.2783+1G>A
XM_011538756.3:c.4322+1G>A	XP_011537058.1:n.4322+1G>A
XM_011538757.3:c.4322+1G>A	XP_011537059.1:n.4322+1G>A
XM_011538758.3:c.4322+1G>A	XP_011537060.1:n.4322+1G>A
XM_011538759.2:c.4322+1G>A	XP_011537061.1:n.4322+1G>A
XM_011538760.2:c.4322+1G>A	XP_011537062.1:n.4322+1G>A
XM_011538761.2:c.4322+1G>A	XP_011537063.1:n.4322+1G>A
XM_011538762.3:c.3554+1G>A	XP_011537064.1:n.3554+1G>A
XM_011538763.3:c.3461+1G>A	XP_011537065.1:n.3461+1G>A
XM_011538764.3:c.4322+1G>A	XP_011537066.1:n.4322+1G>A
XM_011538765.3:c.4322+1G>A	XP_011537067.1:n.4322+1G>A
XM_011538766.3:c.2783+1G>A	XP_011537068.1:n.2783+1G>A
XM_017019980.2:c.4322+1G>A	XP_016875469.1:n.4322+1G>A
XM_017019981.2:c.4322+1G>A	XP_016875470.1:n.4322+1G>A
XM_017019982.1:c.4322+1G>A	XP_016875471.1:n.4322+1G>A
XM_017019983.2:c.3440+1G>A	XP_016875472.1:n.3440+1G>A
XR_001748869.1:n.4666+1G>A
XR_001748870.2:n.4666+1G>A
NM_025114.4:c.3461+1G>A MANE Select	NP_079390.3:n.3461+1G>A