Canonical Allele Identifier: CA385977637
Community Standard Title: NM_025114.4(CEP290):c.6703G>T (p.Glu2235Ter)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88058963C>A , CM000674.2:g.88058963C>A GRCh38
NC_000012.11:g.88452740C>A , CM000674.1:g.88452740C>A GRCh37
NC_000012.10:g.86976871C>A NCBI36
NG_008417.1:g.88254G>T
NG_008417.2:g.88254G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.6703G>T MANE Select NP_079390.3:p.Glu2235Ter
ENST00000552810.6:c.6703G>T MANE Select ENSP00000448012.1:p.Glu2235Ter
NM_025114.3:c.6703G>T NP_079390.3:p.Glu2235Ter
ENST00000309041.11:c.6709G>T ENSP00000308021.7:p.Glu2237Ter
ENST00000309041.12:c.6712G>T ENSP00000308021.8:p.Glu2238Ter
ENST00000547691.6:c.3883G>T ENSP00000446905.1:p.Glu1295Ter
ENST00000547691.8:c.3929+935G>T
ENST00000552810.5:c.6703G>T ENSP00000448012.1:p.Glu2235Ter
ENST00000671777.2:n.482G>T
ENST00000672414.2:c.*4709G>T ENSP00000500729.1:n.*4709G>T
ENST00000672647.1:n.5063G>T
ENST00000673058.2:c.6580G>T ENSP00000500665.2:p.Glu2194Ter
ENST00000674712.1:n.230G>T
ENST00000674889.1:n.3656G>T
ENST00000674971.1:c.6703G>T ENSP00000502194.1:p.Glu2235Ter
ENST00000675230.1:c.6682G>T ENSP00000502503.1:p.Glu2228Ter
ENST00000675408.1:c.6538G>T ENSP00000502298.1:p.Glu2180Ter
ENST00000675476.1:c.7564G>T ENSP00000502161.1:p.Glu2522Ter
ENST00000675628.1:n.6930G>T
ENST00000675794.1:c.*4874G>T ENSP00000502841.1:n.*4874G>T
ENST00000675833.1:c.7471G>T ENSP00000502559.1:p.Glu2491Ter
ENST00000675894.1:n.3008G>T
ENST00000676074.1:c.6538G>T ENSP00000502079.1:p.Glu2180Ter
ENST00000676181.1:n.5631G>T
ENST00000676190.1:n.1142G>T
ENST00000676363.1:n.12429G>T
XM_011538756.1:c.7573G>T XP_011537058.1:p.Glu2525Ter
XM_011538756.3:c.7573G>T XP_011537058.1:p.Glu2525Ter
XM_011538757.1:c.7573G>T XP_011537059.1:p.Glu2525Ter
XM_011538757.3:c.7573G>T XP_011537059.1:p.Glu2525Ter
XM_011538758.1:c.7570G>T XP_011537060.1:p.Glu2524Ter
XM_011538758.3:c.7570G>T XP_011537060.1:p.Glu2524Ter
XM_011538759.1:c.7564G>T XP_011537061.1:p.Glu2522Ter
XM_011538759.2:c.7564G>T XP_011537061.1:p.Glu2522Ter
XM_011538760.1:c.7450G>T XP_011537062.1:p.Glu2484Ter
XM_011538760.2:c.7450G>T XP_011537062.1:p.Glu2484Ter
XM_011538761.1:c.7408G>T XP_011537063.1:p.Glu2470Ter
XM_011538761.2:c.7408G>T XP_011537063.1:p.Glu2470Ter
XM_011538762.1:c.6805G>T XP_011537064.1:p.Glu2269Ter
XM_011538762.3:c.6805G>T XP_011537064.1:p.Glu2269Ter
XM_011538763.1:c.6712G>T XP_011537065.1:p.Glu2238Ter
XM_011538763.3:c.6712G>T XP_011537065.1:p.Glu2238Ter
XM_011538766.1:c.6034G>T XP_011537068.1:p.Glu2012Ter
XM_011538766.3:c.6034G>T XP_011537068.1:p.Glu2012Ter
XM_017019980.2:c.7441G>T XP_016875469.1:p.Glu2481Ter
XM_017019981.2:c.7399G>T XP_016875470.1:p.Glu2467Ter
XM_017019982.1:c.7573G>T XP_016875471.1:p.Glu2525Ter
XM_017019983.2:c.6691G>T XP_016875472.1:p.Glu2231Ter
XR_001748869.1:n.7908G>T
XR_001748870.2:n.7743G>T
XR_945163.1:n.967+1943C>A