Canonical Allele Identifier: CA385969319

Gene: CEP290

Linked Data

• dbSNP Id: rs1457663420
• gnomAD v2: 12-88496667-A-C
• gnomAD v4: 12-88102890-A-C
• MyVariant Identifiers: chr12:g.88496667A>C (hg19) ; chr12:g.88102890A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88102890A>C , CM000674.2:g.88102890A>C	GRCh38
NC_000012.11:g.88496667A>C , CM000674.1:g.88496667A>C	GRCh37
NC_000012.10:g.87020798A>C	NCBI36
NG_008417.1:g.44327T>G
NG_008417.2:g.44327T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.2939T>G	ENSP00000308021.8:p.Leu980Trp
ENST00000547691.8:c.223T>G
ENST00000552810.6:c.2939T>G MANE Select	ENSP00000448012.1:p.Leu980Trp
ENST00000672414.2:c.*1110T>G	ENSP00000500729.1:n.*1110T>G
ENST00000672647.1:n.1299T>G
ENST00000673058.2:c.2939T>G	ENSP00000500665.2:p.Leu980Trp
ENST00000674971.1:c.2939T>G	ENSP00000502194.1:p.Leu980Trp
ENST00000675089.1:c.122T>G	ENSP00000501582.1:p.Leu41Trp
ENST00000675230.1:c.2918T>G	ENSP00000502503.1:p.Leu973Trp
ENST00000675408.1:c.2939T>G	ENSP00000502298.1:p.Leu980Trp
ENST00000675476.1:c.3800T>G	ENSP00000502161.1:p.Leu1267Trp
ENST00000675628.1:n.3166T>G
ENST00000675794.1:c.*1110T>G	ENSP00000502841.1:n.*1110T>G
ENST00000675833.1:c.3707T>G	ENSP00000502559.1:p.Leu1236Trp
ENST00000676074.1:c.2939T>G	ENSP00000502079.1:p.Leu980Trp
ENST00000676181.1:n.627T>G
ENST00000676363.1:n.8665T>G
ENST00000676448.1:c.*852T>G	ENSP00000501987.1:n.*852T>G
ENST00000309041.11:c.2945T>G	ENSP00000308021.7:p.Leu982Trp
ENST00000547691.6:c.119T>G	ENSP00000446905.1:p.Leu40Trp
ENST00000552810.5:c.2939T>G	ENSP00000448012.1:p.Leu980Trp
ENST00000604024.5:c.2198T>G	ENSP00000473863.1:p.Leu733Trp
NM_025114.3:c.2939T>G	NP_079390.3:p.Leu980Trp
XM_011538756.1:c.3800T>G	XP_011537058.1:p.Leu1267Trp
XM_011538757.1:c.3800T>G	XP_011537059.1:p.Leu1267Trp
XM_011538758.1:c.3800T>G	XP_011537060.1:p.Leu1267Trp
XM_011538759.1:c.3800T>G	XP_011537061.1:p.Leu1267Trp
XM_011538760.1:c.3800T>G	XP_011537062.1:p.Leu1267Trp
XM_011538761.1:c.3800T>G	XP_011537063.1:p.Leu1267Trp
XM_011538762.1:c.3032T>G	XP_011537064.1:p.Leu1011Trp
XM_011538763.1:c.2939T>G	XP_011537065.1:p.Leu980Trp
XM_011538764.1:c.3800T>G	XP_011537066.1:p.Leu1267Trp
XM_011538765.1:c.3800T>G	XP_011537067.1:p.Leu1267Trp
XM_011538766.1:c.2261T>G	XP_011537068.1:p.Leu754Trp
XM_011538756.3:c.3800T>G	XP_011537058.1:p.Leu1267Trp
XM_011538757.3:c.3800T>G	XP_011537059.1:p.Leu1267Trp
XM_011538758.3:c.3800T>G	XP_011537060.1:p.Leu1267Trp
XM_011538759.2:c.3800T>G	XP_011537061.1:p.Leu1267Trp
XM_011538760.2:c.3800T>G	XP_011537062.1:p.Leu1267Trp
XM_011538761.2:c.3800T>G	XP_011537063.1:p.Leu1267Trp
XM_011538762.3:c.3032T>G	XP_011537064.1:p.Leu1011Trp
XM_011538763.3:c.2939T>G	XP_011537065.1:p.Leu980Trp
XM_011538764.3:c.3800T>G	XP_011537066.1:p.Leu1267Trp
XM_011538765.3:c.3800T>G	XP_011537067.1:p.Leu1267Trp
XM_011538766.3:c.2261T>G	XP_011537068.1:p.Leu754Trp
XM_017019980.2:c.3800T>G	XP_016875469.1:p.Leu1267Trp
XM_017019981.2:c.3800T>G	XP_016875470.1:p.Leu1267Trp
XM_017019982.1:c.3800T>G	XP_016875471.1:p.Leu1267Trp
XM_017019983.2:c.2918T>G	XP_016875472.1:p.Leu973Trp
XR_001748869.1:n.4144T>G
XR_001748870.2:n.4144T>G
NM_025114.4:c.2939T>G MANE Select	NP_079390.3:p.Leu980Trp