Canonical Allele Identifier: CA385978953

Gene: CEP290

Linked Data

• ClinVar Variation Id: 503613
• ClinVar RCV Id: RCV000599471 ; RCV003465350
• dbSNP Id: rs1555197766
• gnomAD v4: 12-88060988-T-A
• MyVariant Identifiers: chr12:g.88454765T>A (hg19) ; chr12:g.88060988T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88060988T>A , CM000674.2:g.88060988T>A	GRCh38
NC_000012.11:g.88454765T>A , CM000674.1:g.88454765T>A	GRCh37
NC_000012.10:g.86978896T>A	NCBI36
NG_008417.1:g.86229A>T
NG_008417.2:g.86229A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.6373A>T	ENSP00000308021.8:p.Arg2125Ter
ENST00000547691.8:c.3648A>T
ENST00000552810.6:c.6364A>T MANE Select	ENSP00000448012.1:p.Arg2122Ter
ENST00000671777.2:n.143A>T
ENST00000672414.2:c.*4529-968A>T	ENSP00000500729.1:n.*4529-968A>T
ENST00000672647.1:n.4724A>T
ENST00000673058.2:c.6364A>T	ENSP00000500665.2:p.Arg2122Ter
ENST00000674889.1:n.3317A>T
ENST00000674971.1:c.6364A>T	ENSP00000502194.1:p.Arg2122Ter
ENST00000675230.1:c.6343A>T	ENSP00000502503.1:p.Arg2115Ter
ENST00000675408.1:c.6358-968A>T	ENSP00000502298.1:n.6358-968A>T
ENST00000675476.1:c.7225A>T	ENSP00000502161.1:p.Arg2409Ter
ENST00000675628.1:n.6591A>T
ENST00000675794.1:c.*4535A>T	ENSP00000502841.1:n.*4535A>T
ENST00000675833.1:c.7132A>T	ENSP00000502559.1:p.Arg2378Ter
ENST00000675894.1:n.2669A>T
ENST00000676074.1:c.6358-968A>T	ENSP00000502079.1:n.6358-968A>T
ENST00000676181.1:n.5292A>T
ENST00000676190.1:n.803A>T
ENST00000676363.1:n.12090A>T
ENST00000309041.11:c.6370A>T	ENSP00000308021.7:p.Arg2124Ter
ENST00000547691.6:c.3544A>T	ENSP00000446905.1:p.Arg1182Ter
ENST00000552810.5:c.6364A>T	ENSP00000448012.1:p.Arg2122Ter
NM_025114.3:c.6364A>T	NP_079390.3:p.Arg2122Ter
XM_011538756.1:c.7234A>T	XP_011537058.1:p.Arg2412Ter
XM_011538757.1:c.7234A>T	XP_011537059.1:p.Arg2412Ter
XM_011538758.1:c.7231A>T	XP_011537060.1:p.Arg2411Ter
XM_011538759.1:c.7225A>T	XP_011537061.1:p.Arg2409Ter
XM_011538760.1:c.7234A>T	XP_011537062.1:p.Arg2412Ter
XM_011538761.1:c.7228-968A>T	XP_011537063.1:n.7228-968A>T
XM_011538762.1:c.6466A>T	XP_011537064.1:p.Arg2156Ter
XM_011538763.1:c.6373A>T	XP_011537065.1:p.Arg2125Ter
XM_011538766.1:c.5695A>T	XP_011537068.1:p.Arg1899Ter
XR_945163.1:n.967+3968T>A
XM_011538756.3:c.7234A>T	XP_011537058.1:p.Arg2412Ter
XM_011538757.3:c.7234A>T	XP_011537059.1:p.Arg2412Ter
XM_011538758.3:c.7231A>T	XP_011537060.1:p.Arg2411Ter
XM_011538759.2:c.7225A>T	XP_011537061.1:p.Arg2409Ter
XM_011538760.2:c.7234A>T	XP_011537062.1:p.Arg2412Ter
XM_011538761.2:c.7228-968A>T	XP_011537063.1:n.7228-968A>T
XM_011538762.3:c.6466A>T	XP_011537064.1:p.Arg2156Ter
XM_011538763.3:c.6373A>T	XP_011537065.1:p.Arg2125Ter
XM_011538766.3:c.5695A>T	XP_011537068.1:p.Arg1899Ter
XM_017019980.2:c.7225A>T	XP_016875469.1:p.Arg2409Ter
XM_017019981.2:c.7219-968A>T	XP_016875470.1:n.7219-968A>T
XM_017019982.1:c.7234A>T	XP_016875471.1:p.Arg2412Ter
XM_017019983.2:c.6352A>T	XP_016875472.1:p.Arg2118Ter
XR_001748869.1:n.7569A>T
XR_001748870.2:n.7563-968A>T
NM_025114.4:c.6364A>T MANE Select	NP_079390.3:p.Arg2122Ter