Canonical Allele Identifier: CA385977934
Community Standard Title: NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88059909C>A , CM000674.2:g.88059909C>A GRCh38
NC_000012.11:g.88453686C>A , CM000674.1:g.88453686C>A GRCh37
NC_000012.10:g.86977817C>A NCBI36
NG_008417.1:g.87308G>T
NG_008417.2:g.87308G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.6634G>T MANE Select NP_079390.3:p.Glu2212Ter
ENST00000552810.6:c.6634G>T MANE Select ENSP00000448012.1:p.Glu2212Ter
NM_025114.3:c.6634G>T NP_079390.3:p.Glu2212Ter
ENST00000309041.11:c.6640G>T ENSP00000308021.7:p.Glu2214Ter
ENST00000309041.12:c.6643G>T ENSP00000308021.8:p.Glu2215Ter
ENST00000547691.6:c.3814G>T ENSP00000446905.1:p.Glu1272Ter
ENST00000547691.8:c.3918G>T
ENST00000552810.5:c.6634G>T ENSP00000448012.1:p.Glu2212Ter
ENST00000671777.2:n.413G>T
ENST00000672414.2:c.*4640G>T ENSP00000500729.1:n.*4640G>T
ENST00000672647.1:n.4994G>T
ENST00000673058.2:c.6523-889G>T ENSP00000500665.2:n.6523-889G>T
ENST00000674889.1:n.3587G>T
ENST00000674971.1:c.6634G>T ENSP00000502194.1:p.Glu2212Ter
ENST00000675230.1:c.6613G>T ENSP00000502503.1:p.Glu2205Ter
ENST00000675408.1:c.6469G>T ENSP00000502298.1:p.Glu2157Ter
ENST00000675476.1:c.7495G>T ENSP00000502161.1:p.Glu2499Ter
ENST00000675628.1:n.6861G>T
ENST00000675794.1:c.*4805G>T ENSP00000502841.1:n.*4805G>T
ENST00000675833.1:c.7402G>T ENSP00000502559.1:p.Glu2468Ter
ENST00000675894.1:n.2939G>T
ENST00000676074.1:c.6469G>T ENSP00000502079.1:p.Glu2157Ter
ENST00000676181.1:n.5562G>T
ENST00000676190.1:n.1073G>T
ENST00000676363.1:n.12360G>T
XM_011538756.1:c.7504G>T XP_011537058.1:p.Glu2502Ter
XM_011538756.3:c.7504G>T XP_011537058.1:p.Glu2502Ter
XM_011538757.1:c.7504G>T XP_011537059.1:p.Glu2502Ter
XM_011538757.3:c.7504G>T XP_011537059.1:p.Glu2502Ter
XM_011538758.1:c.7501G>T XP_011537060.1:p.Glu2501Ter
XM_011538758.3:c.7501G>T XP_011537060.1:p.Glu2501Ter
XM_011538759.1:c.7495G>T XP_011537061.1:p.Glu2499Ter
XM_011538759.2:c.7495G>T XP_011537061.1:p.Glu2499Ter
XM_011538760.1:c.7393-889G>T XP_011537062.1:n.7393-889G>T
XM_011538760.2:c.7393-889G>T XP_011537062.1:n.7393-889G>T
XM_011538761.1:c.7339G>T XP_011537063.1:p.Glu2447Ter
XM_011538761.2:c.7339G>T XP_011537063.1:p.Glu2447Ter
XM_011538762.1:c.6736G>T XP_011537064.1:p.Glu2246Ter
XM_011538762.3:c.6736G>T XP_011537064.1:p.Glu2246Ter
XM_011538763.1:c.6643G>T XP_011537065.1:p.Glu2215Ter
XM_011538763.3:c.6643G>T XP_011537065.1:p.Glu2215Ter
XM_011538766.1:c.5965G>T XP_011537068.1:p.Glu1989Ter
XM_011538766.3:c.5965G>T XP_011537068.1:p.Glu1989Ter
XM_017019980.2:c.7384-889G>T XP_016875469.1:n.7384-889G>T
XM_017019981.2:c.7330G>T XP_016875470.1:p.Glu2444Ter
XM_017019982.1:c.7504G>T XP_016875471.1:p.Glu2502Ter
XM_017019983.2:c.6622G>T XP_016875472.1:p.Glu2208Ter
XR_001748869.1:n.7839G>T
XR_001748870.2:n.7674G>T
XR_945163.1:n.967+2889C>A