Canonical Allele Identifier: CA385993223

Gene: CEP290

Linked Data

• ClinVar Variation Id: 2948937
• ClinVar RCV Id: RCV003801663
• MyVariant Identifiers: chr12:g.88477638T>A (hg19) ; chr12:g.88083861T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083861T>A , CM000674.2:g.88083861T>A	GRCh38
NC_000012.11:g.88477638T>A , CM000674.1:g.88477638T>A	GRCh37
NC_000012.10:g.87001769T>A	NCBI36
NG_008417.1:g.63356A>T
NG_008417.2:g.63356A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4798A>T	ENSP00000308021.8:p.Lys1600Ter
ENST00000547691.8:c.2082A>T
ENST00000552810.6:c.4798A>T MANE Select	ENSP00000448012.1:p.Lys1600Ter
ENST00000672414.2:c.*2969A>T	ENSP00000500729.1:n.*2969A>T
ENST00000672647.1:n.3158A>T
ENST00000673058.2:c.4798A>T	ENSP00000500665.2:p.Lys1600Ter
ENST00000674971.1:c.4798A>T	ENSP00000502194.1:p.Lys1600Ter
ENST00000675230.1:c.4777A>T	ENSP00000502503.1:p.Lys1593Ter
ENST00000675408.1:c.4798A>T	ENSP00000502298.1:p.Lys1600Ter
ENST00000675476.1:c.5659A>T	ENSP00000502161.1:p.Lys1887Ter
ENST00000675628.1:n.5025A>T
ENST00000675794.1:c.*2969A>T	ENSP00000502841.1:n.*2969A>T
ENST00000675833.1:c.5566A>T	ENSP00000502559.1:p.Lys1856Ter
ENST00000675894.1:n.1103A>T
ENST00000676074.1:c.4798A>T	ENSP00000502079.1:p.Lys1600Ter
ENST00000676181.1:n.3726A>T
ENST00000676363.1:n.10524A>T
ENST00000676448.1:c.*2711A>T	ENSP00000501987.1:n.*2711A>T
ENST00000309041.11:c.4804A>T	ENSP00000308021.7:p.Lys1602Ter
ENST00000547691.6:c.1978A>T	ENSP00000446905.1:p.Lys660Ter
ENST00000552810.5:c.4798A>T	ENSP00000448012.1:p.Lys1600Ter
NM_025114.3:c.4798A>T	NP_079390.3:p.Lys1600Ter
XM_011538756.1:c.5659A>T	XP_011537058.1:p.Lys1887Ter
XM_011538757.1:c.5659A>T	XP_011537059.1:p.Lys1887Ter
XM_011538758.1:c.5659A>T	XP_011537060.1:p.Lys1887Ter
XM_011538759.1:c.5659A>T	XP_011537061.1:p.Lys1887Ter
XM_011538760.1:c.5659A>T	XP_011537062.1:p.Lys1887Ter
XM_011538761.1:c.5659A>T	XP_011537063.1:p.Lys1887Ter
XM_011538762.1:c.4891A>T	XP_011537064.1:p.Lys1631Ter
XM_011538763.1:c.4798A>T	XP_011537065.1:p.Lys1600Ter
XM_011538764.1:c.5659A>T	XP_011537066.1:p.Lys1887Ter
XM_011538765.1:c.5659A>T	XP_011537067.1:p.Lys1887Ter
XM_011538766.1:c.4120A>T	XP_011537068.1:p.Lys1374Ter
XM_011538756.3:c.5659A>T	XP_011537058.1:p.Lys1887Ter
XM_011538757.3:c.5659A>T	XP_011537059.1:p.Lys1887Ter
XM_011538758.3:c.5659A>T	XP_011537060.1:p.Lys1887Ter
XM_011538759.2:c.5659A>T	XP_011537061.1:p.Lys1887Ter
XM_011538760.2:c.5659A>T	XP_011537062.1:p.Lys1887Ter
XM_011538761.2:c.5659A>T	XP_011537063.1:p.Lys1887Ter
XM_011538762.3:c.4891A>T	XP_011537064.1:p.Lys1631Ter
XM_011538763.3:c.4798A>T	XP_011537065.1:p.Lys1600Ter
XM_011538764.3:c.5659A>T	XP_011537066.1:p.Lys1887Ter
XM_011538765.3:c.5659A>T	XP_011537067.1:p.Lys1887Ter
XM_011538766.3:c.4120A>T	XP_011537068.1:p.Lys1374Ter
XM_017019980.2:c.5659A>T	XP_016875469.1:p.Lys1887Ter
XM_017019981.2:c.5659A>T	XP_016875470.1:p.Lys1887Ter
XM_017019982.1:c.5659A>T	XP_016875471.1:p.Lys1887Ter
XM_017019983.2:c.4777A>T	XP_016875472.1:p.Lys1593Ter
XR_001748869.1:n.6003A>T
XR_001748870.2:n.6003A>T
NM_025114.4:c.4798A>T MANE Select	NP_079390.3:p.Lys1600Ter