Canonical Allele Identifier: CA385979405

Gene: CEP290

Linked Data

• ClinVar Variation Id: 1195974
• ClinVar RCV Id: RCV001559310 ; RCV001559311 ; RCV001559312 ; RCV001559309
• dbSNP Id: rs2034578914
• gnomAD v4: 12-88062772-C-T
• MyVariant Identifiers: chr12:g.88456549C>T (hg19) ; chr12:g.88062772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88062772C>T , CM000674.2:g.88062772C>T	GRCh38
NC_000012.11:g.88456549C>T , CM000674.1:g.88456549C>T	GRCh37
NC_000012.10:g.86980680C>T	NCBI36
NG_008417.1:g.84445G>A
NG_008417.2:g.84445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.6286G>A	ENSP00000308021.8:p.Val2096Ile
ENST00000547691.8:c.3561G>A
ENST00000552810.6:c.6277G>A MANE Select	ENSP00000448012.1:p.Val2093Ile
ENST00000672414.2:c.*4448G>A	ENSP00000500729.1:n.*4448G>A
ENST00000672647.1:n.4637G>A
ENST00000673058.2:c.6277G>A	ENSP00000500665.2:p.Val2093Ile
ENST00000674889.1:n.3230G>A
ENST00000674971.1:c.6277G>A	ENSP00000502194.1:p.Val2093Ile
ENST00000675230.1:c.6256G>A	ENSP00000502503.1:p.Val2086Ile
ENST00000675408.1:c.6277G>A	ENSP00000502298.1:p.Val2093Ile
ENST00000675476.1:c.7138G>A	ENSP00000502161.1:p.Val2380Ile
ENST00000675628.1:n.6504G>A
ENST00000675794.1:c.*4448G>A	ENSP00000502841.1:n.*4448G>A
ENST00000675833.1:c.7045G>A	ENSP00000502559.1:p.Val2349Ile
ENST00000675894.1:n.2582G>A
ENST00000676074.1:c.6277G>A	ENSP00000502079.1:p.Val2093Ile
ENST00000676181.1:n.5205G>A
ENST00000676190.1:n.716G>A
ENST00000676363.1:n.12003G>A
ENST00000309041.11:c.6283G>A	ENSP00000308021.7:p.Val2095Ile
ENST00000547691.6:c.3457G>A	ENSP00000446905.1:p.Val1153Ile
ENST00000552810.5:c.6277G>A	ENSP00000448012.1:p.Val2093Ile
NM_025114.3:c.6277G>A	NP_079390.3:p.Val2093Ile
XM_011538756.1:c.7147G>A	XP_011537058.1:p.Val2383Ile
XM_011538757.1:c.7147G>A	XP_011537059.1:p.Val2383Ile
XM_011538758.1:c.7144G>A	XP_011537060.1:p.Val2382Ile
XM_011538759.1:c.7138G>A	XP_011537061.1:p.Val2380Ile
XM_011538760.1:c.7147G>A	XP_011537062.1:p.Val2383Ile
XM_011538761.1:c.7147G>A	XP_011537063.1:p.Val2383Ile
XM_011538762.1:c.6379G>A	XP_011537064.1:p.Val2127Ile
XM_011538763.1:c.6286G>A	XP_011537065.1:p.Val2096Ile
XM_011538766.1:c.5608G>A	XP_011537068.1:p.Val1870Ile
XR_945163.1:n.967+5752C>T
XM_011538756.3:c.7147G>A	XP_011537058.1:p.Val2383Ile
XM_011538757.3:c.7147G>A	XP_011537059.1:p.Val2383Ile
XM_011538758.3:c.7144G>A	XP_011537060.1:p.Val2382Ile
XM_011538759.2:c.7138G>A	XP_011537061.1:p.Val2380Ile
XM_011538760.2:c.7147G>A	XP_011537062.1:p.Val2383Ile
XM_011538761.2:c.7147G>A	XP_011537063.1:p.Val2383Ile
XM_011538762.3:c.6379G>A	XP_011537064.1:p.Val2127Ile
XM_011538763.3:c.6286G>A	XP_011537065.1:p.Val2096Ile
XM_011538766.3:c.5608G>A	XP_011537068.1:p.Val1870Ile
XM_017019980.2:c.7138G>A	XP_016875469.1:p.Val2380Ile
XM_017019981.2:c.7138G>A	XP_016875470.1:p.Val2380Ile
XM_017019982.1:c.7147G>A	XP_016875471.1:p.Val2383Ile
XM_017019983.2:c.6265G>A	XP_016875472.1:p.Val2089Ile
XR_001748869.1:n.7482G>A
XR_001748870.2:n.7482G>A
NM_025114.4:c.6277G>A MANE Select	NP_079390.3:p.Val2093Ile