Canonical Allele Identifier: CA386000812
Community Standard Title: NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88089325C>A , CM000674.2:g.88089325C>A GRCh38
NC_000012.11:g.88483102C>A , CM000674.1:g.88483102C>A GRCh37
NC_000012.10:g.87007233C>A NCBI36
NG_008417.1:g.57892G>T
NG_008417.2:g.57892G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.3736G>T MANE Select NP_079390.3:p.Glu1246Ter
ENST00000552810.6:c.3736G>T MANE Select ENSP00000448012.1:p.Glu1246Ter
NM_025114.3:c.3736G>T NP_079390.3:p.Glu1246Ter
ENST00000309041.11:c.3742G>T ENSP00000308021.7:p.Glu1248Ter
ENST00000309041.12:c.3736G>T ENSP00000308021.8:p.Glu1246Ter
ENST00000547691.6:c.916G>T ENSP00000446905.1:p.Glu306Ter
ENST00000547691.8:c.1020G>T
ENST00000552810.5:c.3736G>T ENSP00000448012.1:p.Glu1246Ter
ENST00000672414.2:c.*1907G>T ENSP00000500729.1:n.*1907G>T
ENST00000672647.1:n.2096G>T
ENST00000673058.2:c.3736G>T ENSP00000500665.2:p.Glu1246Ter
ENST00000674971.1:c.3736G>T ENSP00000502194.1:p.Glu1246Ter
ENST00000675230.1:c.3715G>T ENSP00000502503.1:p.Glu1239Ter
ENST00000675408.1:c.3736G>T ENSP00000502298.1:p.Glu1246Ter
ENST00000675476.1:c.4597G>T ENSP00000502161.1:p.Glu1533Ter
ENST00000675628.1:n.3963G>T
ENST00000675794.1:c.*1907G>T ENSP00000502841.1:n.*1907G>T
ENST00000675833.1:c.4504G>T ENSP00000502559.1:p.Glu1502Ter
ENST00000676074.1:c.3736G>T ENSP00000502079.1:p.Glu1246Ter
ENST00000676181.1:n.2664G>T
ENST00000676363.1:n.9462G>T
ENST00000676448.1:c.*1649G>T ENSP00000501987.1:n.*1649G>T
XM_011538756.1:c.4597G>T XP_011537058.1:p.Glu1533Ter
XM_011538756.3:c.4597G>T XP_011537058.1:p.Glu1533Ter
XM_011538757.1:c.4597G>T XP_011537059.1:p.Glu1533Ter
XM_011538757.3:c.4597G>T XP_011537059.1:p.Glu1533Ter
XM_011538758.1:c.4597G>T XP_011537060.1:p.Glu1533Ter
XM_011538758.3:c.4597G>T XP_011537060.1:p.Glu1533Ter
XM_011538759.1:c.4597G>T XP_011537061.1:p.Glu1533Ter
XM_011538759.2:c.4597G>T XP_011537061.1:p.Glu1533Ter
XM_011538760.1:c.4597G>T XP_011537062.1:p.Glu1533Ter
XM_011538760.2:c.4597G>T XP_011537062.1:p.Glu1533Ter
XM_011538761.1:c.4597G>T XP_011537063.1:p.Glu1533Ter
XM_011538761.2:c.4597G>T XP_011537063.1:p.Glu1533Ter
XM_011538762.1:c.3829G>T XP_011537064.1:p.Glu1277Ter
XM_011538762.3:c.3829G>T XP_011537064.1:p.Glu1277Ter
XM_011538763.1:c.3736G>T XP_011537065.1:p.Glu1246Ter
XM_011538763.3:c.3736G>T XP_011537065.1:p.Glu1246Ter
XM_011538764.1:c.4597G>T XP_011537066.1:p.Glu1533Ter
XM_011538764.3:c.4597G>T XP_011537066.1:p.Glu1533Ter
XM_011538765.1:c.4597G>T XP_011537067.1:p.Glu1533Ter
XM_011538765.3:c.4597G>T XP_011537067.1:p.Glu1533Ter
XM_011538766.1:c.3058G>T XP_011537068.1:p.Glu1020Ter
XM_011538766.3:c.3058G>T XP_011537068.1:p.Glu1020Ter
XM_017019980.2:c.4597G>T XP_016875469.1:p.Glu1533Ter
XM_017019981.2:c.4597G>T XP_016875470.1:p.Glu1533Ter
XM_017019982.1:c.4597G>T XP_016875471.1:p.Glu1533Ter
XM_017019983.2:c.3715G>T XP_016875472.1:p.Glu1239Ter
XR_001748869.1:n.4941G>T
XR_001748870.2:n.4941G>T