Canonical Allele Identifier: CA385976655
Community Standard Title: NM_025114.4(CEP290):c.6838A>T (p.Lys2280Ter)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88055698T>A , CM000674.2:g.88055698T>A GRCh38
NC_000012.11:g.88449475T>A , CM000674.1:g.88449475T>A GRCh37
NC_000012.10:g.86973606T>A NCBI36
NG_008417.1:g.91519A>T
NG_008417.2:g.91519A>T

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.6838A>T MANE Select NP_079390.3:p.Lys2280Ter
ENST00000552810.6:c.6838A>T MANE Select ENSP00000448012.1:p.Lys2280Ter
NM_025114.3:c.6838A>T NP_079390.3:p.Lys2280Ter
ENST00000309041.11:c.6844A>T ENSP00000308021.7:p.Lys2282Ter
ENST00000309041.12:c.6847A>T ENSP00000308021.8:p.Lys2283Ter
ENST00000547691.6:c.4018A>T ENSP00000446905.1:p.Lys1340Ter
ENST00000547691.8:c.3930-1285A>T
ENST00000552810.5:c.6838A>T ENSP00000448012.1:p.Lys2280Ter
ENST00000671777.2:n.617A>T
ENST00000672414.2:c.*4844A>T ENSP00000500729.1:n.*4844A>T
ENST00000672647.1:n.5198A>T
ENST00000673058.2:c.6715A>T ENSP00000500665.2:p.Lys2239Ter
ENST00000674712.1:n.365A>T
ENST00000674889.1:n.3791A>T
ENST00000674971.1:c.6838A>T ENSP00000502194.1:p.Lys2280Ter
ENST00000675230.1:c.6817A>T ENSP00000502503.1:p.Lys2273Ter
ENST00000675408.1:c.6673A>T ENSP00000502298.1:p.Lys2225Ter
ENST00000675476.1:c.7699A>T ENSP00000502161.1:p.Lys2567Ter
ENST00000675628.1:n.7065A>T
ENST00000675794.1:c.*5009A>T ENSP00000502841.1:n.*5009A>T
ENST00000675833.1:c.7606A>T ENSP00000502559.1:p.Lys2536Ter
ENST00000675894.1:n.3143A>T
ENST00000676074.1:c.6673A>T ENSP00000502079.1:p.Lys2225Ter
ENST00000676181.1:n.5766A>T
ENST00000676190.1:n.1277A>T
ENST00000676363.1:n.12564A>T
XM_011538756.1:c.7708A>T XP_011537058.1:p.Lys2570Ter
XM_011538756.3:c.7708A>T XP_011537058.1:p.Lys2570Ter
XM_011538757.1:c.7708A>T XP_011537059.1:p.Lys2570Ter
XM_011538757.3:c.7708A>T XP_011537059.1:p.Lys2570Ter
XM_011538758.1:c.7705A>T XP_011537060.1:p.Lys2569Ter
XM_011538758.3:c.7705A>T XP_011537060.1:p.Lys2569Ter
XM_011538759.1:c.7699A>T XP_011537061.1:p.Lys2567Ter
XM_011538759.2:c.7699A>T XP_011537061.1:p.Lys2567Ter
XM_011538760.1:c.7585A>T XP_011537062.1:p.Lys2529Ter
XM_011538760.2:c.7585A>T XP_011537062.1:p.Lys2529Ter
XM_011538761.1:c.7543A>T XP_011537063.1:p.Lys2515Ter
XM_011538761.2:c.7543A>T XP_011537063.1:p.Lys2515Ter
XM_011538762.1:c.6940A>T XP_011537064.1:p.Lys2314Ter
XM_011538762.3:c.6940A>T XP_011537064.1:p.Lys2314Ter
XM_011538763.1:c.6847A>T XP_011537065.1:p.Lys2283Ter
XM_011538763.3:c.6847A>T XP_011537065.1:p.Lys2283Ter
XM_011538766.1:c.6169A>T XP_011537068.1:p.Lys2057Ter
XM_011538766.3:c.6169A>T XP_011537068.1:p.Lys2057Ter
XM_017019980.2:c.7576A>T XP_016875469.1:p.Lys2526Ter
XM_017019981.2:c.7534A>T XP_016875470.1:p.Lys2512Ter
XM_017019982.1:c.7708A>T XP_016875471.1:p.Lys2570Ter
XM_017019983.2:c.6826A>T XP_016875472.1:p.Lys2276Ter
XR_001748869.1:n.8043A>T
XR_001748870.2:n.7878A>T
XR_945163.1:n.853+426T>A