Canonical Allele Identifier: CA385975607
Community Standard Title: NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88054380C>A , CM000674.2:g.88054380C>A GRCh38
NC_000012.11:g.88448157C>A , CM000674.1:g.88448157C>A GRCh37
NC_000012.10:g.86972288C>A NCBI36
NG_008417.1:g.92837G>T
NG_008417.2:g.92837G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.6994G>T MANE Select NP_079390.3:p.Glu2332Ter
ENST00000552810.6:c.6994G>T MANE Select ENSP00000448012.1:p.Glu2332Ter
NM_025114.3:c.6994G>T NP_079390.3:p.Glu2332Ter
ENST00000309041.11:c.7000G>T ENSP00000308021.7:p.Glu2334Ter
ENST00000309041.12:c.7003G>T ENSP00000308021.8:p.Glu2335Ter
ENST00000547691.6:c.4174G>T ENSP00000446905.1:p.Glu1392Ter
ENST00000547691.8:c.3963G>T
ENST00000552810.5:c.6994G>T ENSP00000448012.1:p.Glu2332Ter
ENST00000671777.2:n.773G>T
ENST00000672414.2:c.*5000G>T ENSP00000500729.1:n.*5000G>T
ENST00000672647.1:n.5354G>T
ENST00000673058.2:c.6871G>T ENSP00000500665.2:p.Glu2291Ter
ENST00000674712.1:n.521G>T
ENST00000674889.1:n.3947G>T
ENST00000674971.1:c.6961-634G>T ENSP00000502194.1:n.6961-634G>T
ENST00000675230.1:c.6973G>T ENSP00000502503.1:p.Glu2325Ter
ENST00000675408.1:c.6829G>T ENSP00000502298.1:p.Glu2277Ter
ENST00000675476.1:c.7855G>T ENSP00000502161.1:p.Glu2619Ter
ENST00000675628.1:n.8383G>T
ENST00000675794.1:c.*5165G>T ENSP00000502841.1:n.*5165G>T
ENST00000675833.1:c.7762G>T ENSP00000502559.1:p.Glu2588Ter
ENST00000675894.1:n.3299G>T
ENST00000676074.1:c.6796-634G>T ENSP00000502079.1:n.6796-634G>T
ENST00000676181.1:n.7084G>T
ENST00000676190.1:n.2595G>T
ENST00000676363.1:n.12720G>T
XM_011538756.1:c.7864G>T XP_011537058.1:p.Glu2622Ter
XM_011538756.3:c.7864G>T XP_011537058.1:p.Glu2622Ter
XM_011538757.1:c.7864G>T XP_011537059.1:p.Glu2622Ter
XM_011538757.3:c.7864G>T XP_011537059.1:p.Glu2622Ter
XM_011538758.1:c.7861G>T XP_011537060.1:p.Glu2621Ter
XM_011538758.3:c.7861G>T XP_011537060.1:p.Glu2621Ter
XM_011538759.1:c.7855G>T XP_011537061.1:p.Glu2619Ter
XM_011538759.2:c.7855G>T XP_011537061.1:p.Glu2619Ter
XM_011538760.1:c.7741G>T XP_011537062.1:p.Glu2581Ter
XM_011538760.2:c.7741G>T XP_011537062.1:p.Glu2581Ter
XM_011538761.1:c.7699G>T XP_011537063.1:p.Glu2567Ter
XM_011538761.2:c.7699G>T XP_011537063.1:p.Glu2567Ter
XM_011538762.1:c.7096G>T XP_011537064.1:p.Glu2366Ter
XM_011538762.3:c.7096G>T XP_011537064.1:p.Glu2366Ter
XM_011538763.1:c.7003G>T XP_011537065.1:p.Glu2335Ter
XM_011538763.3:c.7003G>T XP_011537065.1:p.Glu2335Ter
XM_011538766.1:c.6325G>T XP_011537068.1:p.Glu2109Ter
XM_011538766.3:c.6325G>T XP_011537068.1:p.Glu2109Ter
XM_017019980.2:c.7732G>T XP_016875469.1:p.Glu2578Ter
XM_017019981.2:c.7690G>T XP_016875470.1:p.Glu2564Ter
XM_017019982.1:c.7831-634G>T XP_016875471.1:n.7831-634G>T
XM_017019983.2:c.6982G>T XP_016875472.1:p.Glu2328Ter
XR_001748869.1:n.8166-634G>T
XR_001748870.2:n.8001-634G>T