Canonical Allele Identifier: CA2052914431
Community Standard Title: NM_025114.4(CEP290):c.2941C= (p.Gln981=)
Gene: CEP290 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88102888G= , CM000674.2:g.88102888G= GRCh38
NC_000012.11:g.88496665G= , CM000674.1:g.88496665G= GRCh37
NC_000012.10:g.87020796G= NCBI36
NG_008417.1:g.44329C=
NG_008417.2:g.44329C=

Transcript Alleles

HGVS Amino-acid Change
NM_025114.4:c.2941C= MANE Select NP_079390.3:p.Gln981=
ENST00000552810.6:c.2941C= MANE Select ENSP00000448012.1:p.Gln981=
NM_025114.3:c.2941C= NP_079390.3:p.Gln981=
ENST00000309041.11:c.2947C= ENSP00000308021.7:p.Gln983=
ENST00000309041.12:c.2941C= ENSP00000308021.8:p.Gln981=
ENST00000547691.6:c.121C= ENSP00000446905.1:p.Gln41=
ENST00000547691.8:c.225C=
ENST00000552810.5:c.2941C= ENSP00000448012.1:p.Gln981=
ENST00000604024.5:c.2200C= ENSP00000473863.1:p.Gln734=
ENST00000672414.2:c.*1112C= ENSP00000500729.1:n.*1112C=
ENST00000672647.1:n.1301C=
ENST00000673058.2:c.2941C= ENSP00000500665.2:p.Gln981=
ENST00000674971.1:c.2941C= ENSP00000502194.1:p.Gln981=
ENST00000675089.1:c.124C= ENSP00000501582.1:p.Gln42=
ENST00000675230.1:c.2920C= ENSP00000502503.1:p.Gln974=
ENST00000675408.1:c.2941C= ENSP00000502298.1:p.Gln981=
ENST00000675476.1:c.3802C= ENSP00000502161.1:p.Gln1268=
ENST00000675628.1:n.3168C=
ENST00000675794.1:c.*1112C= ENSP00000502841.1:n.*1112C=
ENST00000675833.1:c.3709C= ENSP00000502559.1:p.Gln1237=
ENST00000676074.1:c.2941C= ENSP00000502079.1:p.Gln981=
ENST00000676181.1:n.629C=
ENST00000676363.1:n.8667C=
ENST00000676448.1:c.*854C= ENSP00000501987.1:n.*854C=
XM_011538756.1:c.3802C= XP_011537058.1:p.Gln1268=
XM_011538756.3:c.3802C= XP_011537058.1:p.Gln1268=
XM_011538757.1:c.3802C= XP_011537059.1:p.Gln1268=
XM_011538757.3:c.3802C= XP_011537059.1:p.Gln1268=
XM_011538758.1:c.3802C= XP_011537060.1:p.Gln1268=
XM_011538758.3:c.3802C= XP_011537060.1:p.Gln1268=
XM_011538759.1:c.3802C= XP_011537061.1:p.Gln1268=
XM_011538759.2:c.3802C= XP_011537061.1:p.Gln1268=
XM_011538760.1:c.3802C= XP_011537062.1:p.Gln1268=
XM_011538760.2:c.3802C= XP_011537062.1:p.Gln1268=
XM_011538761.1:c.3802C= XP_011537063.1:p.Gln1268=
XM_011538761.2:c.3802C= XP_011537063.1:p.Gln1268=
XM_011538762.1:c.3034C= XP_011537064.1:p.Gln1012=
XM_011538762.3:c.3034C= XP_011537064.1:p.Gln1012=
XM_011538763.1:c.2941C= XP_011537065.1:p.Gln981=
XM_011538763.3:c.2941C= XP_011537065.1:p.Gln981=
XM_011538764.1:c.3802C= XP_011537066.1:p.Gln1268=
XM_011538764.3:c.3802C= XP_011537066.1:p.Gln1268=
XM_011538765.1:c.3802C= XP_011537067.1:p.Gln1268=
XM_011538765.3:c.3802C= XP_011537067.1:p.Gln1268=
XM_011538766.1:c.2263C= XP_011537068.1:p.Gln755=
XM_011538766.3:c.2263C= XP_011537068.1:p.Gln755=
XM_017019980.2:c.3802C= XP_016875469.1:p.Gln1268=
XM_017019981.2:c.3802C= XP_016875470.1:p.Gln1268=
XM_017019982.1:c.3802C= XP_016875471.1:p.Gln1268=
XM_017019983.2:c.2920C= XP_016875472.1:p.Gln974=
XR_001748869.1:n.4146C=
XR_001748870.2:n.4146C=