Canonical Allele Identifier: CA385976221
Community Standard Title: NM_025114.4(CEP290):c.6916A>T (p.Arg2306Ter)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88055620T>A , CM000674.2:g.88055620T>A GRCh38
NC_000012.11:g.88449397T>A , CM000674.1:g.88449397T>A GRCh37
NC_000012.10:g.86973528T>A NCBI36
NG_008417.1:g.91597A>T
NG_008417.2:g.91597A>T

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.6916A>T MANE Select NP_079390.3:p.Arg2306Ter
ENST00000552810.6:c.6916A>T MANE Select ENSP00000448012.1:p.Arg2306Ter
NM_025114.3:c.6916A>T NP_079390.3:p.Arg2306Ter
ENST00000309041.11:c.6922A>T ENSP00000308021.7:p.Arg2308Ter
ENST00000309041.12:c.6925A>T ENSP00000308021.8:p.Arg2309Ter
ENST00000547691.6:c.4096A>T ENSP00000446905.1:p.Arg1366Ter
ENST00000547691.8:c.3930-1207A>T
ENST00000552810.5:c.6916A>T ENSP00000448012.1:p.Arg2306Ter
ENST00000671777.2:n.695A>T
ENST00000672414.2:c.*4922A>T ENSP00000500729.1:n.*4922A>T
ENST00000672647.1:n.5276A>T
ENST00000673058.2:c.6793A>T ENSP00000500665.2:p.Arg2265Ter
ENST00000674712.1:n.443A>T
ENST00000674889.1:n.3869A>T
ENST00000674971.1:c.6916A>T ENSP00000502194.1:p.Arg2306Ter
ENST00000675230.1:c.6895A>T ENSP00000502503.1:p.Arg2299Ter
ENST00000675408.1:c.6751A>T ENSP00000502298.1:p.Arg2251Ter
ENST00000675476.1:c.7777A>T ENSP00000502161.1:p.Arg2593Ter
ENST00000675628.1:n.7143A>T
ENST00000675794.1:c.*5087A>T ENSP00000502841.1:n.*5087A>T
ENST00000675833.1:c.7684A>T ENSP00000502559.1:p.Arg2562Ter
ENST00000675894.1:n.3221A>T
ENST00000676074.1:c.6751A>T ENSP00000502079.1:p.Arg2251Ter
ENST00000676181.1:n.5844A>T
ENST00000676190.1:n.1355A>T
ENST00000676363.1:n.12642A>T
XM_011538756.1:c.7786A>T XP_011537058.1:p.Arg2596Ter
XM_011538756.3:c.7786A>T XP_011537058.1:p.Arg2596Ter
XM_011538757.1:c.7786A>T XP_011537059.1:p.Arg2596Ter
XM_011538757.3:c.7786A>T XP_011537059.1:p.Arg2596Ter
XM_011538758.1:c.7783A>T XP_011537060.1:p.Arg2595Ter
XM_011538758.3:c.7783A>T XP_011537060.1:p.Arg2595Ter
XM_011538759.1:c.7777A>T XP_011537061.1:p.Arg2593Ter
XM_011538759.2:c.7777A>T XP_011537061.1:p.Arg2593Ter
XM_011538760.1:c.7663A>T XP_011537062.1:p.Arg2555Ter
XM_011538760.2:c.7663A>T XP_011537062.1:p.Arg2555Ter
XM_011538761.1:c.7621A>T XP_011537063.1:p.Arg2541Ter
XM_011538761.2:c.7621A>T XP_011537063.1:p.Arg2541Ter
XM_011538762.1:c.7018A>T XP_011537064.1:p.Arg2340Ter
XM_011538762.3:c.7018A>T XP_011537064.1:p.Arg2340Ter
XM_011538763.1:c.6925A>T XP_011537065.1:p.Arg2309Ter
XM_011538763.3:c.6925A>T XP_011537065.1:p.Arg2309Ter
XM_011538766.1:c.6247A>T XP_011537068.1:p.Arg2083Ter
XM_011538766.3:c.6247A>T XP_011537068.1:p.Arg2083Ter
XM_017019980.2:c.7654A>T XP_016875469.1:p.Arg2552Ter
XM_017019981.2:c.7612A>T XP_016875470.1:p.Arg2538Ter
XM_017019982.1:c.7786A>T XP_016875471.1:p.Arg2596Ter
XM_017019983.2:c.6904A>T XP_016875472.1:p.Arg2302Ter
XR_001748869.1:n.8121A>T
XR_001748870.2:n.7956A>T
XR_945163.1:n.853+348T>A