Canonical Allele Identifier: CA369287961

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130400786G>T , CM000669.2:g.130400786G>T	GRCh38
NC_000007.13:g.130040627G>T , CM000669.1:g.130040627G>T	GRCh37
NC_000007.12:g.129827863G>T	NCBI36
NG_032164.1:g.45425C>A
NG_032164.2:g.45425C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.678C>A MANE Select	ENSP00000223208.4:p.Asp226Glu
ENST00000343969.10:c.678C>A	ENSP00000342738.6:p.Asp226Glu
ENST00000471201.6:c.891C>A	ENSP00000417463.2:p.Asp297Glu
ENST00000472739.6:c.573C>A	ENSP00000417593.2:p.Asp191Glu
ENST00000475282.6:c.573C>A	ENSP00000418363.2:p.Asp191Glu
ENST00000477003.6:c.*280C>A	ENSP00000420670.2:n.*280C>A
ENST00000480206.2:c.678C>A	ENSP00000502099.1:p.Asp226Glu
ENST00000484549.6:c.*850C>A	ENSP00000419078.2:n.*850C>A
ENST00000492389.6:c.698C>A	ENSP00000419192.2:n.698C>A
ENST00000541543.6:c.669C>A	ENSP00000445888.2:p.Asp223Glu
ENST00000674539.1:c.423-1747C>A	ENSP00000502834.1:n.423-1747C>A
ENST00000674630.1:c.*224C>A	ENSP00000502521.1:n.*224C>A
ENST00000675138.1:c.723C>A	ENSP00000501597.1:p.Asp241Glu
ENST00000675168.1:c.630C>A	ENSP00000501563.1:p.Asp210Glu
ENST00000675328.1:n.488C>A
ENST00000675542.1:n.643C>A
ENST00000675563.1:c.69C>A	ENSP00000502483.1:p.Asp23Glu
ENST00000675596.1:c.678C>A	ENSP00000501735.1:p.Asp226Glu
ENST00000675649.1:c.575-532C>A	ENSP00000502385.1:n.575-532C>A
ENST00000675721.1:c.*621C>A	ENSP00000502026.1:n.*621C>A
ENST00000675803.1:c.639C>A	ENSP00000502477.1:p.Asp213Glu
ENST00000675813.1:c.*582C>A	ENSP00000502785.1:n.*582C>A
ENST00000675935.1:c.669C>A	ENSP00000501731.1:p.Asp223Glu
ENST00000675962.1:c.630C>A	ENSP00000502478.1:p.Asp210Glu
ENST00000676115.1:c.*599C>A	ENSP00000502631.1:n.*599C>A
ENST00000676243.1:c.678C>A	ENSP00000501717.1:p.Asp226Glu
ENST00000676312.1:c.639C>A	ENSP00000502312.1:p.Asp213Glu
ENST00000223208.9:c.678C>A	ENSP00000223208.4:p.Asp226Glu
ENST00000343969.9:c.678C>A	ENSP00000342738.5:p.Asp226Glu
ENST00000480206.1:n.143C>A
ENST00000484549.5:c.*224C>A	ENSP00000419078.1:n.*224C>A
ENST00000485736.5:n.361C>A
ENST00000492389.5:c.573C>A	ENSP00000419192.1:p.Asp191Glu
ENST00000541543.5:c.630C>A	ENSP00000445888.1:p.Asp210Glu
ENST00000603513.1:n.424C>A
NM_001257158.1:c.678C>A	NP_001244087.1:p.Asp226Glu
NM_001257159.1:c.630C>A	NP_001244088.1:p.Asp210Glu
NM_018718.2:c.678C>A	NP_061188.1:p.Asp226Glu
NR_046443.1:n.846C>A
XM_011516708.1:c.723C>A	XP_011515010.1:p.Asp241Glu
XM_011516709.1:c.573C>A	XP_011515011.1:p.Asp191Glu
XM_011516710.1:c.573C>A	XP_011515012.1:p.Asp191Glu
XM_011516711.1:c.573C>A	XP_011515013.1:p.Asp191Glu
XM_011516712.1:c.723C>A	XP_011515014.1:p.Asp241Glu
XM_011516709.3:c.573C>A	XP_011515011.1:p.Asp191Glu
XM_011516710.3:c.573C>A	XP_011515012.1:p.Asp191Glu
XM_024447004.1:c.639C>A	XP_024302772.1:p.Asp213Glu
NM_018718.3:c.678C>A MANE Select	NP_061188.1:p.Asp226Glu
NM_001257158.2:c.678C>A	NP_001244087.1:p.Asp226Glu
NR_046443.2:n.652C>A
NM_001257159.2:c.630C>A	NP_001244088.1:p.Asp210Glu