Canonical Allele Identifier: CA385969014

Gene: CEP290

Linked Data

• MyVariant Identifiers: chr12:g.88496629A>C (hg19) ; chr12:g.88102852A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88102852A>C , CM000674.2:g.88102852A>C	GRCh38
NC_000012.11:g.88496629A>C , CM000674.1:g.88496629A>C	GRCh37
NC_000012.10:g.87020760A>C	NCBI36
NG_008417.1:g.44365T>G
NG_008417.2:g.44365T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.2977T>G	ENSP00000308021.8:p.Leu993Val
ENST00000547691.8:c.261T>G
ENST00000552810.6:c.2977T>G MANE Select	ENSP00000448012.1:p.Leu993Val
ENST00000672414.2:c.*1148T>G	ENSP00000500729.1:n.*1148T>G
ENST00000672647.1:n.1337T>G
ENST00000673058.2:c.2977T>G	ENSP00000500665.2:p.Leu993Val
ENST00000674971.1:c.2977T>G	ENSP00000502194.1:p.Leu993Val
ENST00000675089.1:c.160T>G	ENSP00000501582.1:p.Leu54Val
ENST00000675230.1:c.2956T>G	ENSP00000502503.1:p.Leu986Val
ENST00000675408.1:c.2977T>G	ENSP00000502298.1:p.Leu993Val
ENST00000675476.1:c.3838T>G	ENSP00000502161.1:p.Leu1280Val
ENST00000675628.1:n.3204T>G
ENST00000675794.1:c.*1148T>G	ENSP00000502841.1:n.*1148T>G
ENST00000675833.1:c.3745T>G	ENSP00000502559.1:p.Leu1249Val
ENST00000676074.1:c.2977T>G	ENSP00000502079.1:p.Leu993Val
ENST00000676181.1:n.665T>G
ENST00000676363.1:n.8703T>G
ENST00000676448.1:c.*890T>G	ENSP00000501987.1:n.*890T>G
ENST00000309041.11:c.2983T>G	ENSP00000308021.7:p.Leu995Val
ENST00000547691.6:c.157T>G	ENSP00000446905.1:p.Leu53Val
ENST00000552810.5:c.2977T>G	ENSP00000448012.1:p.Leu993Val
ENST00000604024.5:c.2236T>G	ENSP00000473863.1:p.Leu746Val
NM_025114.3:c.2977T>G	NP_079390.3:p.Leu993Val
XM_011538756.1:c.3838T>G	XP_011537058.1:p.Leu1280Val
XM_011538757.1:c.3838T>G	XP_011537059.1:p.Leu1280Val
XM_011538758.1:c.3838T>G	XP_011537060.1:p.Leu1280Val
XM_011538759.1:c.3838T>G	XP_011537061.1:p.Leu1280Val
XM_011538760.1:c.3838T>G	XP_011537062.1:p.Leu1280Val
XM_011538761.1:c.3838T>G	XP_011537063.1:p.Leu1280Val
XM_011538762.1:c.3070T>G	XP_011537064.1:p.Leu1024Val
XM_011538763.1:c.2977T>G	XP_011537065.1:p.Leu993Val
XM_011538764.1:c.3838T>G	XP_011537066.1:p.Leu1280Val
XM_011538765.1:c.3838T>G	XP_011537067.1:p.Leu1280Val
XM_011538766.1:c.2299T>G	XP_011537068.1:p.Leu767Val
XM_011538756.3:c.3838T>G	XP_011537058.1:p.Leu1280Val
XM_011538757.3:c.3838T>G	XP_011537059.1:p.Leu1280Val
XM_011538758.3:c.3838T>G	XP_011537060.1:p.Leu1280Val
XM_011538759.2:c.3838T>G	XP_011537061.1:p.Leu1280Val
XM_011538760.2:c.3838T>G	XP_011537062.1:p.Leu1280Val
XM_011538761.2:c.3838T>G	XP_011537063.1:p.Leu1280Val
XM_011538762.3:c.3070T>G	XP_011537064.1:p.Leu1024Val
XM_011538763.3:c.2977T>G	XP_011537065.1:p.Leu993Val
XM_011538764.3:c.3838T>G	XP_011537066.1:p.Leu1280Val
XM_011538765.3:c.3838T>G	XP_011537067.1:p.Leu1280Val
XM_011538766.3:c.2299T>G	XP_011537068.1:p.Leu767Val
XM_017019980.2:c.3838T>G	XP_016875469.1:p.Leu1280Val
XM_017019981.2:c.3838T>G	XP_016875470.1:p.Leu1280Val
XM_017019982.1:c.3838T>G	XP_016875471.1:p.Leu1280Val
XM_017019983.2:c.2956T>G	XP_016875472.1:p.Leu986Val
XR_001748869.1:n.4182T>G
XR_001748870.2:n.4182T>G
NM_025114.4:c.2977T>G MANE Select	NP_079390.3:p.Leu993Val