Canonical Allele Identifier: CA385979446

Gene: CEP290

Linked Data

• gnomAD v4: 12-88062780-T-C
• MyVariant Identifiers: chr12:g.88456557T>C (hg19) ; chr12:g.88062780T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88062780T>C , CM000674.2:g.88062780T>C	GRCh38
NC_000012.11:g.88456557T>C , CM000674.1:g.88456557T>C	GRCh37
NC_000012.10:g.86980688T>C	NCBI36
NG_008417.1:g.84437A>G
NG_008417.2:g.84437A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000309041.12:c.6280-2A>G	ENSP00000308021.8:n.6280-2A>G
ENST00000547691.8:c.3555-2A>G
ENST00000552810.6:c.6271-2A>G MANE Select	ENSP00000448012.1:n.6271-2A>G
ENST00000672414.2:c.*4442-2A>G	ENSP00000500729.1:n.*4442-2A>G
ENST00000672647.1:n.4631-2A>G
ENST00000673058.2:c.6271-2A>G	ENSP00000500665.2:n.6271-2A>G
ENST00000674889.1:n.3224-2A>G
ENST00000674971.1:c.6271-2A>G	ENSP00000502194.1:n.6271-2A>G
ENST00000675230.1:c.6250-2A>G	ENSP00000502503.1:n.6250-2A>G
ENST00000675408.1:c.6271-2A>G	ENSP00000502298.1:n.6271-2A>G
ENST00000675476.1:c.7132-2A>G	ENSP00000502161.1:n.7132-2A>G
ENST00000675628.1:n.6498-2A>G
ENST00000675794.1:c.*4442-2A>G	ENSP00000502841.1:n.*4442-2A>G
ENST00000675833.1:c.7039-2A>G	ENSP00000502559.1:n.7039-2A>G
ENST00000675894.1:n.2576-2A>G
ENST00000676074.1:c.6271-2A>G	ENSP00000502079.1:n.6271-2A>G
ENST00000676181.1:n.5199-2A>G
ENST00000676190.1:n.710-2A>G
ENST00000676363.1:n.11997-2A>G
ENST00000309041.11:c.6277-2A>G	ENSP00000308021.7:n.6277-2A>G
ENST00000547691.6:c.3451-2A>G	ENSP00000446905.1:n.3451-2A>G
ENST00000552810.5:c.6271-2A>G	ENSP00000448012.1:n.6271-2A>G
NM_025114.3:c.6271-2A>G	NP_079390.3:n.6271-2A>G
XM_011538756.1:c.7141-2A>G	XP_011537058.1:n.7141-2A>G
XM_011538757.1:c.7141-2A>G	XP_011537059.1:n.7141-2A>G
XM_011538758.1:c.7138-2A>G	XP_011537060.1:n.7138-2A>G
XM_011538759.1:c.7132-2A>G	XP_011537061.1:n.7132-2A>G
XM_011538760.1:c.7141-2A>G	XP_011537062.1:n.7141-2A>G
XM_011538761.1:c.7141-2A>G	XP_011537063.1:n.7141-2A>G
XM_011538762.1:c.6373-2A>G	XP_011537064.1:n.6373-2A>G
XM_011538763.1:c.6280-2A>G	XP_011537065.1:n.6280-2A>G
XM_011538766.1:c.5602-2A>G	XP_011537068.1:n.5602-2A>G
XR_945163.1:n.967+5760T>C
XM_011538756.3:c.7141-2A>G	XP_011537058.1:n.7141-2A>G
XM_011538757.3:c.7141-2A>G	XP_011537059.1:n.7141-2A>G
XM_011538758.3:c.7138-2A>G	XP_011537060.1:n.7138-2A>G
XM_011538759.2:c.7132-2A>G	XP_011537061.1:n.7132-2A>G
XM_011538760.2:c.7141-2A>G	XP_011537062.1:n.7141-2A>G
XM_011538761.2:c.7141-2A>G	XP_011537063.1:n.7141-2A>G
XM_011538762.3:c.6373-2A>G	XP_011537064.1:n.6373-2A>G
XM_011538763.3:c.6280-2A>G	XP_011537065.1:n.6280-2A>G
XM_011538766.3:c.5602-2A>G	XP_011537068.1:n.5602-2A>G
XM_017019980.2:c.7132-2A>G	XP_016875469.1:n.7132-2A>G
XM_017019981.2:c.7132-2A>G	XP_016875470.1:n.7132-2A>G
XM_017019982.1:c.7141-2A>G	XP_016875471.1:n.7141-2A>G
XM_017019983.2:c.6259-2A>G	XP_016875472.1:n.6259-2A>G
XR_001748869.1:n.7476-2A>G
XR_001748870.2:n.7476-2A>G
NM_025114.4:c.6271-2A>G MANE Select	NP_079390.3:n.6271-2A>G