Canonical Allele Identifier: CA385979532

Gene: CEP290

Linked Data

• ClinVar Variation Id: 530919
• ClinVar RCV Id: RCV000636997 ; RCV001829789
• dbSNP Id: rs1192112844
• gnomAD v4: 12-88118744-C-A
• MyVariant Identifiers: chr12:g.88512521C>A (hg19) ; chr12:g.88118744C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88118744C>A , CM000674.2:g.88118744C>A	GRCh38
NC_000012.11:g.88512521C>A , CM000674.1:g.88512521C>A	GRCh37
NC_000012.10:g.87036652C>A	NCBI36
NG_008417.1:g.28473G>T
NG_008417.2:g.28473G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.1523-1G>T	ENSP00000308021.8:n.1523-1G>T
ENST00000397838.8:c.1469-1G>T	ENSP00000380938.5:n.1469-1G>T
ENST00000547926.7:c.1523-1G>T	ENSP00000448573.3:n.1523-1G>T
ENST00000552810.6:c.1523-1G>T MANE Select	ENSP00000448012.1:n.1523-1G>T
ENST00000671822.2:n.3119G>T
ENST00000672414.2:c.1523-1G>T	ENSP00000500729.1:n.1523-1G>T
ENST00000673058.2:c.1523-1G>T	ENSP00000500665.2:n.1523-1G>T
ENST00000674971.1:c.1523-1G>T	ENSP00000502194.1:n.1523-1G>T
ENST00000675230.1:c.1502-1G>T	ENSP00000502503.1:n.1502-1G>T
ENST00000675408.1:c.1523-1G>T	ENSP00000502298.1:n.1523-1G>T
ENST00000675476.1:c.1523-1G>T	ENSP00000502161.1:n.1523-1G>T
ENST00000675559.1:c.*69-1G>T	ENSP00000502163.1:n.*69-1G>T
ENST00000675628.1:n.1750-1G>T
ENST00000675794.1:c.1523-1G>T	ENSP00000502841.1:n.1523-1G>T
ENST00000675833.1:c.1523-1G>T	ENSP00000502559.1:n.1523-1G>T
ENST00000676074.1:c.1523-1G>T	ENSP00000502079.1:n.1523-1G>T
ENST00000676351.1:c.*2405G>T	ENSP00000502046.1:n.*2405G>T
ENST00000676363.1:n.3586-1G>T
ENST00000676418.1:c.1519-1G>T	ENSP00000502371.1:n.1519-1G>T
ENST00000676448.1:c.1523-1G>T	ENSP00000501987.1:n.1523-1G>T
ENST00000309041.11:c.1523-1G>T	ENSP00000308021.7:n.1523-1G>T
ENST00000397838.7:c.1523-1G>T	ENSP00000380938.4:n.1523-1G>T
ENST00000547926.6:c.1421-1G>T	ENSP00000448573.2:n.1421-1G>T
ENST00000552810.5:c.1523-1G>T	ENSP00000448012.1:n.1523-1G>T
ENST00000604024.5:c.689-1G>T	ENSP00000473863.1:n.689-1G>T
NM_025114.3:c.1523-1G>T	NP_079390.3:n.1523-1G>T
XM_011538756.1:c.1523-1G>T	XP_011537058.1:n.1523-1G>T
XM_011538757.1:c.1523-1G>T	XP_011537059.1:n.1523-1G>T
XM_011538758.1:c.1523-1G>T	XP_011537060.1:n.1523-1G>T
XM_011538759.1:c.1523-1G>T	XP_011537061.1:n.1523-1G>T
XM_011538760.1:c.1523-1G>T	XP_011537062.1:n.1523-1G>T
XM_011538761.1:c.1523-1G>T	XP_011537063.1:n.1523-1G>T
XM_011538762.1:c.1523-1G>T	XP_011537064.1:n.1523-1G>T
XM_011538763.1:c.1523-1G>T	XP_011537065.1:n.1523-1G>T
XM_011538764.1:c.1523-1G>T	XP_011537066.1:n.1523-1G>T
XM_011538765.1:c.1523-1G>T	XP_011537067.1:n.1523-1G>T
XM_011538766.1:c.-17-1G>T	XP_011537068.1:n.-17-1G>T
XM_011538756.3:c.1523-1G>T	XP_011537058.1:n.1523-1G>T
XM_011538757.3:c.1523-1G>T	XP_011537059.1:n.1523-1G>T
XM_011538758.3:c.1523-1G>T	XP_011537060.1:n.1523-1G>T
XM_011538759.2:c.1523-1G>T	XP_011537061.1:n.1523-1G>T
XM_011538760.2:c.1523-1G>T	XP_011537062.1:n.1523-1G>T
XM_011538761.2:c.1523-1G>T	XP_011537063.1:n.1523-1G>T
XM_011538762.3:c.1523-1G>T	XP_011537064.1:n.1523-1G>T
XM_011538763.3:c.1523-1G>T	XP_011537065.1:n.1523-1G>T
XM_011538764.3:c.1523-1G>T	XP_011537066.1:n.1523-1G>T
XM_011538765.3:c.1523-1G>T	XP_011537067.1:n.1523-1G>T
XM_011538766.3:c.-17-1G>T	XP_011537068.1:n.-17-1G>T
XM_017019980.2:c.1523-1G>T	XP_016875469.1:n.1523-1G>T
XM_017019981.2:c.1523-1G>T	XP_016875470.1:n.1523-1G>T
XM_017019982.1:c.1523-1G>T	XP_016875471.1:n.1523-1G>T
XM_017019983.2:c.1502-1G>T	XP_016875472.1:n.1502-1G>T
XR_001748869.1:n.1867-1G>T
XR_001748870.2:n.1867-1G>T
NM_025114.4:c.1523-1G>T MANE Select	NP_079390.3:n.1523-1G>T