Canonical Allele Identifier: CA385979402
Gene: CEP290 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000309041.12:c.6286G>C ENSP00000308021.8:p.Val2096Leu
ENST00000547691.8:c.3561G>C
ENST00000552810.6:c.6277G>C MANE Select ENSP00000448012.1:p.Val2093Leu
ENST00000672414.2:c.*4448G>C ENSP00000500729.1:n.*4448G>C
ENST00000672647.1:n.4637G>C
ENST00000673058.2:c.6277G>C ENSP00000500665.2:p.Val2093Leu
ENST00000674889.1:n.3230G>C
ENST00000674971.1:c.6277G>C ENSP00000502194.1:p.Val2093Leu
ENST00000675230.1:c.6256G>C ENSP00000502503.1:p.Val2086Leu
ENST00000675408.1:c.6277G>C ENSP00000502298.1:p.Val2093Leu
ENST00000675476.1:c.7138G>C ENSP00000502161.1:p.Val2380Leu
ENST00000675628.1:n.6504G>C
ENST00000675794.1:c.*4448G>C ENSP00000502841.1:n.*4448G>C
ENST00000675833.1:c.7045G>C ENSP00000502559.1:p.Val2349Leu
ENST00000675894.1:n.2582G>C
ENST00000676074.1:c.6277G>C ENSP00000502079.1:p.Val2093Leu
ENST00000676181.1:n.5205G>C
ENST00000676190.1:n.716G>C
ENST00000676363.1:n.12003G>C
ENST00000309041.11:c.6283G>C ENSP00000308021.7:p.Val2095Leu
ENST00000547691.6:c.3457G>C ENSP00000446905.1:p.Val1153Leu
ENST00000552810.5:c.6277G>C ENSP00000448012.1:p.Val2093Leu
NM_025114.3:c.6277G>C NP_079390.3:p.Val2093Leu
XM_011538756.1:c.7147G>C XP_011537058.1:p.Val2383Leu
XM_011538757.1:c.7147G>C XP_011537059.1:p.Val2383Leu
XM_011538758.1:c.7144G>C XP_011537060.1:p.Val2382Leu
XM_011538759.1:c.7138G>C XP_011537061.1:p.Val2380Leu
XM_011538760.1:c.7147G>C XP_011537062.1:p.Val2383Leu
XM_011538761.1:c.7147G>C XP_011537063.1:p.Val2383Leu
XM_011538762.1:c.6379G>C XP_011537064.1:p.Val2127Leu
XM_011538763.1:c.6286G>C XP_011537065.1:p.Val2096Leu
XM_011538766.1:c.5608G>C XP_011537068.1:p.Val1870Leu
XR_945163.1:n.967+5752C>G
XM_011538756.3:c.7147G>C XP_011537058.1:p.Val2383Leu
XM_011538757.3:c.7147G>C XP_011537059.1:p.Val2383Leu
XM_011538758.3:c.7144G>C XP_011537060.1:p.Val2382Leu
XM_011538759.2:c.7138G>C XP_011537061.1:p.Val2380Leu
XM_011538760.2:c.7147G>C XP_011537062.1:p.Val2383Leu
XM_011538761.2:c.7147G>C XP_011537063.1:p.Val2383Leu
XM_011538762.3:c.6379G>C XP_011537064.1:p.Val2127Leu
XM_011538763.3:c.6286G>C XP_011537065.1:p.Val2096Leu
XM_011538766.3:c.5608G>C XP_011537068.1:p.Val1870Leu
XM_017019980.2:c.7138G>C XP_016875469.1:p.Val2380Leu
XM_017019981.2:c.7138G>C XP_016875470.1:p.Val2380Leu
XM_017019982.1:c.7147G>C XP_016875471.1:p.Val2383Leu
XM_017019983.2:c.6265G>C XP_016875472.1:p.Val2089Leu
XR_001748869.1:n.7482G>C
XR_001748870.2:n.7482G>C
NM_025114.4:c.6277G>C MANE Select NP_079390.3:p.Val2093Leu