Canonical Allele Identifier: CA385971741
Community Standard Title: NM_025114.4(CEP290):c.2578G>T (p.Glu860Ter)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88107004C>A , CM000674.2:g.88107004C>A GRCh38
NC_000012.11:g.88500781C>A , CM000674.1:g.88500781C>A GRCh37
NC_000012.10:g.87024912C>A NCBI36
NG_008417.1:g.40213G>T
NG_008417.2:g.40213G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.2578G>T MANE Select NP_079390.3:p.Glu860Ter
ENST00000552810.6:c.2578G>T MANE Select ENSP00000448012.1:p.Glu860Ter
NM_025114.3:c.2578G>T NP_079390.3:p.Glu860Ter
ENST00000309041.11:c.2584G>T ENSP00000308021.7:p.Glu862Ter
ENST00000309041.12:c.2578G>T ENSP00000308021.8:p.Glu860Ter
ENST00000552810.5:c.2578G>T ENSP00000448012.1:p.Glu860Ter
ENST00000604024.5:c.1837G>T ENSP00000473863.1:p.Glu613Ter
ENST00000672414.2:c.*749G>T ENSP00000500729.1:n.*749G>T
ENST00000673058.2:c.2578G>T ENSP00000500665.2:p.Glu860Ter
ENST00000674971.1:c.2578G>T ENSP00000502194.1:p.Glu860Ter
ENST00000675230.1:c.2557G>T ENSP00000502503.1:p.Glu853Ter
ENST00000675408.1:c.2578G>T ENSP00000502298.1:p.Glu860Ter
ENST00000675476.1:c.3439G>T ENSP00000502161.1:p.Glu1147Ter
ENST00000675628.1:n.2805G>T
ENST00000675794.1:c.*749G>T ENSP00000502841.1:n.*749G>T
ENST00000675833.1:c.3346G>T ENSP00000502559.1:p.Glu1116Ter
ENST00000676074.1:c.2578G>T ENSP00000502079.1:p.Glu860Ter
ENST00000676363.1:n.4641G>T
ENST00000676448.1:c.*491G>T ENSP00000501987.1:n.*491G>T
XM_011538756.1:c.3439G>T XP_011537058.1:p.Glu1147Ter
XM_011538756.3:c.3439G>T XP_011537058.1:p.Glu1147Ter
XM_011538757.1:c.3439G>T XP_011537059.1:p.Glu1147Ter
XM_011538757.3:c.3439G>T XP_011537059.1:p.Glu1147Ter
XM_011538758.1:c.3439G>T XP_011537060.1:p.Glu1147Ter
XM_011538758.3:c.3439G>T XP_011537060.1:p.Glu1147Ter
XM_011538759.1:c.3439G>T XP_011537061.1:p.Glu1147Ter
XM_011538759.2:c.3439G>T XP_011537061.1:p.Glu1147Ter
XM_011538760.1:c.3439G>T XP_011537062.1:p.Glu1147Ter
XM_011538760.2:c.3439G>T XP_011537062.1:p.Glu1147Ter
XM_011538761.1:c.3439G>T XP_011537063.1:p.Glu1147Ter
XM_011538761.2:c.3439G>T XP_011537063.1:p.Glu1147Ter
XM_011538762.1:c.2671G>T XP_011537064.1:p.Glu891Ter
XM_011538762.3:c.2671G>T XP_011537064.1:p.Glu891Ter
XM_011538763.1:c.2578G>T XP_011537065.1:p.Glu860Ter
XM_011538763.3:c.2578G>T XP_011537065.1:p.Glu860Ter
XM_011538764.1:c.3439G>T XP_011537066.1:p.Glu1147Ter
XM_011538764.3:c.3439G>T XP_011537066.1:p.Glu1147Ter
XM_011538765.1:c.3439G>T XP_011537067.1:p.Glu1147Ter
XM_011538765.3:c.3439G>T XP_011537067.1:p.Glu1147Ter
XM_011538766.1:c.1900G>T XP_011537068.1:p.Glu634Ter
XM_011538766.3:c.1900G>T XP_011537068.1:p.Glu634Ter
XM_017019980.2:c.3439G>T XP_016875469.1:p.Glu1147Ter
XM_017019981.2:c.3439G>T XP_016875470.1:p.Glu1147Ter
XM_017019982.1:c.3439G>T XP_016875471.1:p.Glu1147Ter
XM_017019983.2:c.2557G>T XP_016875472.1:p.Glu853Ter
XR_001748869.1:n.3783G>T
XR_001748870.2:n.3783G>T