Canonical Allele Identifier: CA658656314

Gene: CEP290

Linked Data

• ClinVar Variation Id: 427860
• ClinVar RCV Id: RCV000515679 ; RCV003470596
• dbSNP Id: rs1555220638
• MyVariant Identifiers: chr12:g.88508350A>C (hg19) ; chr12:g.88114573A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88114573A>C , CM000674.2:g.88114573A>C	GRCh38
NC_000012.11:g.88508350A>C , CM000674.1:g.88508350A>C	GRCh37
NC_000012.10:g.87032481A>C	NCBI36
NG_008417.1:g.32644T>G
NG_008417.2:g.32644T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.1910-11T>G	ENSP00000308021.8:n.1910-11T>G
ENST00000547926.7:c.1909+525T>G	ENSP00000448573.3:n.1909+525T>G
ENST00000552810.6:c.1910-11T>G MANE Select	ENSP00000448012.1:n.1910-11T>G
ENST00000671822.2:n.3466-11T>G
ENST00000672414.2:c.*81-11T>G	ENSP00000500729.1:n.*81-11T>G
ENST00000673058.2:c.1910-11T>G	ENSP00000500665.2:n.1910-11T>G
ENST00000674971.1:c.1910-11T>G	ENSP00000502194.1:n.1910-11T>G
ENST00000675230.1:c.1889-11T>G	ENSP00000502503.1:n.1889-11T>G
ENST00000675408.1:c.1910-11T>G	ENSP00000502298.1:n.1910-11T>G
ENST00000675476.1:c.2771-11T>G	ENSP00000502161.1:n.2771-11T>G
ENST00000675628.1:n.2137-11T>G
ENST00000675794.1:c.*81-11T>G	ENSP00000502841.1:n.*81-11T>G
ENST00000675833.1:c.2678-11T>G	ENSP00000502559.1:n.2678-11T>G
ENST00000676074.1:c.1910-11T>G	ENSP00000502079.1:n.1910-11T>G
ENST00000676363.1:n.3973-11T>G
ENST00000676448.1:c.1909+525T>G	ENSP00000501987.1:n.1909+525T>G
ENST00000309041.11:c.1916-11T>G	ENSP00000308021.7:n.1916-11T>G
ENST00000397838.7:c.1916-11T>G	ENSP00000380938.4:n.1916-11T>G
ENST00000547926.6:c.1807+525T>G	ENSP00000448573.2:n.1807+525T>G
ENST00000552810.5:c.1910-11T>G	ENSP00000448012.1:n.1910-11T>G
ENST00000604024.5:c.1169-11T>G	ENSP00000473863.1:n.1169-11T>G
NM_025114.3:c.1910-11T>G	NP_079390.3:n.1910-11T>G
XM_011538756.1:c.2771-11T>G	XP_011537058.1:n.2771-11T>G
XM_011538757.1:c.2771-11T>G	XP_011537059.1:n.2771-11T>G
XM_011538758.1:c.2771-11T>G	XP_011537060.1:n.2771-11T>G
XM_011538759.1:c.2771-11T>G	XP_011537061.1:n.2771-11T>G
XM_011538760.1:c.2771-11T>G	XP_011537062.1:n.2771-11T>G
XM_011538761.1:c.2771-11T>G	XP_011537063.1:n.2771-11T>G
XM_011538762.1:c.2003-11T>G	XP_011537064.1:n.2003-11T>G
XM_011538763.1:c.1910-11T>G	XP_011537065.1:n.1910-11T>G
XM_011538764.1:c.2771-11T>G	XP_011537066.1:n.2771-11T>G
XM_011538765.1:c.2771-11T>G	XP_011537067.1:n.2771-11T>G
XM_011538766.1:c.1232-11T>G	XP_011537068.1:n.1232-11T>G
XM_011538756.3:c.2771-11T>G	XP_011537058.1:n.2771-11T>G
XM_011538757.3:c.2771-11T>G	XP_011537059.1:n.2771-11T>G
XM_011538758.3:c.2771-11T>G	XP_011537060.1:n.2771-11T>G
XM_011538759.2:c.2771-11T>G	XP_011537061.1:n.2771-11T>G
XM_011538760.2:c.2771-11T>G	XP_011537062.1:n.2771-11T>G
XM_011538761.2:c.2771-11T>G	XP_011537063.1:n.2771-11T>G
XM_011538762.3:c.2003-11T>G	XP_011537064.1:n.2003-11T>G
XM_011538763.3:c.1910-11T>G	XP_011537065.1:n.1910-11T>G
XM_011538764.3:c.2771-11T>G	XP_011537066.1:n.2771-11T>G
XM_011538765.3:c.2771-11T>G	XP_011537067.1:n.2771-11T>G
XM_011538766.3:c.1232-11T>G	XP_011537068.1:n.1232-11T>G
XM_017019980.2:c.2771-11T>G	XP_016875469.1:n.2771-11T>G
XM_017019981.2:c.2771-11T>G	XP_016875470.1:n.2771-11T>G
XM_017019982.1:c.2771-11T>G	XP_016875471.1:n.2771-11T>G
XM_017019983.2:c.1889-11T>G	XP_016875472.1:n.1889-11T>G
XR_001748869.1:n.3115-11T>G
XR_001748870.2:n.3115-11T>G
NM_025114.4:c.1910-11T>G MANE Select	NP_079390.3:n.1910-11T>G