Canonical Allele Identifier: CA385979648
Community Standard Title: NM_025114.4(CEP290):c.6226A>T (p.Lys2076Ter)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88064025T>A , CM000674.2:g.88064025T>A GRCh38
NC_000012.11:g.88457802T>A , CM000674.1:g.88457802T>A GRCh37
NC_000012.10:g.86981933T>A NCBI36
NG_008417.1:g.83192A>T
NG_008417.2:g.83192A>T

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.6226A>T MANE Select NP_079390.3:p.Lys2076Ter
ENST00000552810.6:c.6226A>T MANE Select ENSP00000448012.1:p.Lys2076Ter
NM_025114.3:c.6226A>T NP_079390.3:p.Lys2076Ter
ENST00000309041.11:c.6232A>T ENSP00000308021.7:p.Lys2078Ter
ENST00000309041.12:c.6235A>T ENSP00000308021.8:p.Lys2079Ter
ENST00000547691.6:c.3406A>T ENSP00000446905.1:p.Lys1136Ter
ENST00000547691.8:c.3510A>T
ENST00000552810.5:c.6226A>T ENSP00000448012.1:p.Lys2076Ter
ENST00000672414.2:c.*4397A>T ENSP00000500729.1:n.*4397A>T
ENST00000672647.1:n.4586A>T
ENST00000673058.2:c.6226A>T ENSP00000500665.2:p.Lys2076Ter
ENST00000674889.1:n.3179A>T
ENST00000674971.1:c.6226A>T ENSP00000502194.1:p.Lys2076Ter
ENST00000675230.1:c.6205A>T ENSP00000502503.1:p.Lys2069Ter
ENST00000675408.1:c.6226A>T ENSP00000502298.1:p.Lys2076Ter
ENST00000675476.1:c.7087A>T ENSP00000502161.1:p.Lys2363Ter
ENST00000675628.1:n.6453A>T
ENST00000675794.1:c.*4397A>T ENSP00000502841.1:n.*4397A>T
ENST00000675833.1:c.6994A>T ENSP00000502559.1:p.Lys2332Ter
ENST00000675894.1:n.2531A>T
ENST00000676074.1:c.6226A>T ENSP00000502079.1:p.Lys2076Ter
ENST00000676181.1:n.5154A>T
ENST00000676190.1:n.665A>T
ENST00000676363.1:n.11952A>T
XM_011538756.1:c.7096A>T XP_011537058.1:p.Lys2366Ter
XM_011538756.3:c.7096A>T XP_011537058.1:p.Lys2366Ter
XM_011538757.1:c.7096A>T XP_011537059.1:p.Lys2366Ter
XM_011538757.3:c.7096A>T XP_011537059.1:p.Lys2366Ter
XM_011538758.1:c.7093A>T XP_011537060.1:p.Lys2365Ter
XM_011538758.3:c.7093A>T XP_011537060.1:p.Lys2365Ter
XM_011538759.1:c.7087A>T XP_011537061.1:p.Lys2363Ter
XM_011538759.2:c.7087A>T XP_011537061.1:p.Lys2363Ter
XM_011538760.1:c.7096A>T XP_011537062.1:p.Lys2366Ter
XM_011538760.2:c.7096A>T XP_011537062.1:p.Lys2366Ter
XM_011538761.1:c.7096A>T XP_011537063.1:p.Lys2366Ter
XM_011538761.2:c.7096A>T XP_011537063.1:p.Lys2366Ter
XM_011538762.1:c.6328A>T XP_011537064.1:p.Lys2110Ter
XM_011538762.3:c.6328A>T XP_011537064.1:p.Lys2110Ter
XM_011538763.1:c.6235A>T XP_011537065.1:p.Lys2079Ter
XM_011538763.3:c.6235A>T XP_011537065.1:p.Lys2079Ter
XM_011538766.1:c.5557A>T XP_011537068.1:p.Lys1853Ter
XM_011538766.3:c.5557A>T XP_011537068.1:p.Lys1853Ter
XM_017019980.2:c.7087A>T XP_016875469.1:p.Lys2363Ter
XM_017019981.2:c.7087A>T XP_016875470.1:p.Lys2363Ter
XM_017019982.1:c.7096A>T XP_016875471.1:p.Lys2366Ter
XM_017019983.2:c.6214A>T XP_016875472.1:p.Lys2072Ter
XR_001748869.1:n.7431A>T
XR_001748870.2:n.7431A>T
XR_945163.1:n.967+7005T>A