Canonical Allele Identifier: CA386000471

Gene: CEP290

Linked Data

• MyVariant Identifiers: chr12:g.88482943T>G (hg19) ; chr12:g.88089166T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88089166T>G , CM000674.2:g.88089166T>G	GRCh38
NC_000012.11:g.88482943T>G , CM000674.1:g.88482943T>G	GRCh37
NC_000012.10:g.87007074T>G	NCBI36
NG_008417.1:g.58051A>C
NG_008417.2:g.58051A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.3895A>C	ENSP00000308021.8:p.Lys1299Gln
ENST00000547691.8:c.1179A>C
ENST00000552810.6:c.3895A>C MANE Select	ENSP00000448012.1:p.Lys1299Gln
ENST00000672414.2:c.*2066A>C	ENSP00000500729.1:n.*2066A>C
ENST00000672647.1:n.2255A>C
ENST00000673058.2:c.3895A>C	ENSP00000500665.2:p.Lys1299Gln
ENST00000674971.1:c.3895A>C	ENSP00000502194.1:p.Lys1299Gln
ENST00000675230.1:c.3874A>C	ENSP00000502503.1:p.Lys1292Gln
ENST00000675408.1:c.3895A>C	ENSP00000502298.1:p.Lys1299Gln
ENST00000675476.1:c.4756A>C	ENSP00000502161.1:p.Lys1586Gln
ENST00000675628.1:n.4122A>C
ENST00000675794.1:c.*2066A>C	ENSP00000502841.1:n.*2066A>C
ENST00000675833.1:c.4663A>C	ENSP00000502559.1:p.Lys1555Gln
ENST00000676074.1:c.3895A>C	ENSP00000502079.1:p.Lys1299Gln
ENST00000676181.1:n.2823A>C
ENST00000676363.1:n.9621A>C
ENST00000676448.1:c.*1808A>C	ENSP00000501987.1:n.*1808A>C
ENST00000309041.11:c.3901A>C	ENSP00000308021.7:p.Lys1301Gln
ENST00000547691.6:c.1075A>C	ENSP00000446905.1:p.Lys359Gln
ENST00000552810.5:c.3895A>C	ENSP00000448012.1:p.Lys1299Gln
NM_025114.3:c.3895A>C	NP_079390.3:p.Lys1299Gln
XM_011538756.1:c.4756A>C	XP_011537058.1:p.Lys1586Gln
XM_011538757.1:c.4756A>C	XP_011537059.1:p.Lys1586Gln
XM_011538758.1:c.4756A>C	XP_011537060.1:p.Lys1586Gln
XM_011538759.1:c.4756A>C	XP_011537061.1:p.Lys1586Gln
XM_011538760.1:c.4756A>C	XP_011537062.1:p.Lys1586Gln
XM_011538761.1:c.4756A>C	XP_011537063.1:p.Lys1586Gln
XM_011538762.1:c.3988A>C	XP_011537064.1:p.Lys1330Gln
XM_011538763.1:c.3895A>C	XP_011537065.1:p.Lys1299Gln
XM_011538764.1:c.4756A>C	XP_011537066.1:p.Lys1586Gln
XM_011538765.1:c.4756A>C	XP_011537067.1:p.Lys1586Gln
XM_011538766.1:c.3217A>C	XP_011537068.1:p.Lys1073Gln
XM_011538756.3:c.4756A>C	XP_011537058.1:p.Lys1586Gln
XM_011538757.3:c.4756A>C	XP_011537059.1:p.Lys1586Gln
XM_011538758.3:c.4756A>C	XP_011537060.1:p.Lys1586Gln
XM_011538759.2:c.4756A>C	XP_011537061.1:p.Lys1586Gln
XM_011538760.2:c.4756A>C	XP_011537062.1:p.Lys1586Gln
XM_011538761.2:c.4756A>C	XP_011537063.1:p.Lys1586Gln
XM_011538762.3:c.3988A>C	XP_011537064.1:p.Lys1330Gln
XM_011538763.3:c.3895A>C	XP_011537065.1:p.Lys1299Gln
XM_011538764.3:c.4756A>C	XP_011537066.1:p.Lys1586Gln
XM_011538765.3:c.4756A>C	XP_011537067.1:p.Lys1586Gln
XM_011538766.3:c.3217A>C	XP_011537068.1:p.Lys1073Gln
XM_017019980.2:c.4756A>C	XP_016875469.1:p.Lys1586Gln
XM_017019981.2:c.4756A>C	XP_016875470.1:p.Lys1586Gln
XM_017019982.1:c.4756A>C	XP_016875471.1:p.Lys1586Gln
XM_017019983.2:c.3874A>C	XP_016875472.1:p.Lys1292Gln
XR_001748869.1:n.5100A>C
XR_001748870.2:n.5100A>C
NM_025114.4:c.3895A>C MANE Select	NP_079390.3:p.Lys1299Gln