Canonical Allele Identifier: CA369289466

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130404709C>T , CM000669.2:g.130404709C>T	GRCh38
NC_000007.13:g.130044550C>T , CM000669.1:g.130044550C>T	GRCh37
NC_000007.12:g.129831786C>T	NCBI36
NG_032164.1:g.41502G>A
NG_032164.2:g.41502G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018718.3:c.278-1G>A MANE Select	NP_061188.1:n.278-1G>A
ENST00000223208.10:c.278-1G>A MANE Select	ENSP00000223208.4:n.278-1G>A
NM_001257158.1:c.278-1G>A	NP_001244087.1:n.278-1G>A
NM_001257158.2:c.278-1G>A	NP_001244087.1:n.278-1G>A
NM_001257159.1:c.230-1G>A	NP_001244088.1:n.230-1G>A
NM_001257159.2:c.230-1G>A	NP_001244088.1:n.230-1G>A
NM_018718.2:c.278-1G>A	NP_061188.1:n.278-1G>A
NR_046443.1:n.522-1G>A
NR_046443.2:n.328-1G>A
ENST00000223208.9:c.278-1G>A	ENSP00000223208.4:n.278-1G>A
ENST00000343969.10:c.278-1G>A	ENSP00000342738.6:n.278-1G>A
ENST00000343969.9:c.278-1G>A	ENSP00000342738.5:n.278-1G>A
ENST00000471201.5:c.*182-1G>A	ENSP00000417463.1:n.*182-1G>A
ENST00000471201.6:c.491-1G>A	ENSP00000417463.2:n.491-1G>A
ENST00000472739.5:c.173-1G>A	ENSP00000417593.1:n.173-1G>A
ENST00000472739.6:c.173-1G>A	ENSP00000417593.2:n.173-1G>A
ENST00000475282.5:c.173-1G>A	ENSP00000418363.1:n.173-1G>A
ENST00000475282.6:c.173-1G>A	ENSP00000418363.2:n.173-1G>A
ENST00000477003.5:c.269-1G>A	ENSP00000420670.1:n.269-1G>A
ENST00000477003.6:c.278-1G>A	ENSP00000420670.2:n.278-1G>A
ENST00000480206.2:c.278-1G>A	ENSP00000502099.1:n.278-1G>A
ENST00000484549.5:c.278-1G>A	ENSP00000419078.1:n.278-1G>A
ENST00000484549.6:c.*450-1G>A	ENSP00000419078.2:n.*450-1G>A
ENST00000492389.5:c.173-1G>A	ENSP00000419192.1:n.173-1G>A
ENST00000492389.6:c.298-1G>A	ENSP00000419192.2:n.298-1G>A
ENST00000541543.5:c.230-1G>A	ENSP00000445888.1:n.230-1G>A
ENST00000541543.6:c.269-1G>A	ENSP00000445888.2:n.269-1G>A
ENST00000674539.1:c.278-1G>A	ENSP00000502834.1:n.278-1G>A
ENST00000674630.1:c.278-1G>A	ENSP00000502521.1:n.278-1G>A
ENST00000675138.1:c.323-1G>A	ENSP00000501597.1:n.323-1G>A
ENST00000675168.1:c.230-1G>A	ENSP00000501563.1:n.230-1G>A
ENST00000675328.1:n.88-1G>A
ENST00000675494.1:n.587-1G>A
ENST00000675542.1:n.243-1G>A
ENST00000675563.1:c.-332-1G>A	ENSP00000502483.1:n.-332-1G>A
ENST00000675596.1:c.278-1G>A	ENSP00000501735.1:n.278-1G>A
ENST00000675626.1:n.261-1G>A
ENST00000675649.1:c.278-1G>A	ENSP00000502385.1:n.278-1G>A
ENST00000675721.1:c.*221-1G>A	ENSP00000502026.1:n.*221-1G>A
ENST00000675803.1:c.239-1G>A	ENSP00000502477.1:n.239-1G>A
ENST00000675813.1:c.*182-1G>A	ENSP00000502785.1:n.*182-1G>A
ENST00000675935.1:c.278-1G>A	ENSP00000501731.1:n.278-1G>A
ENST00000675962.1:c.230-1G>A	ENSP00000502478.1:n.230-1G>A
ENST00000676115.1:c.*199-1G>A	ENSP00000502631.1:n.*199-1G>A
ENST00000676243.1:c.278-1G>A	ENSP00000501717.1:n.278-1G>A
ENST00000676312.1:c.239-1G>A	ENSP00000502312.1:n.239-1G>A
XM_011516708.1:c.323-1G>A	XP_011515010.1:n.323-1G>A
XM_011516709.1:c.173-1G>A	XP_011515011.1:n.173-1G>A
XM_011516709.3:c.173-1G>A	XP_011515011.1:n.173-1G>A
XM_011516710.1:c.173-1G>A	XP_011515012.1:n.173-1G>A
XM_011516710.3:c.173-1G>A	XP_011515012.1:n.173-1G>A
XM_011516711.1:c.173-1G>A	XP_011515013.1:n.173-1G>A
XM_011516712.1:c.323-1G>A	XP_011515014.1:n.323-1G>A
XM_024447004.1:c.239-1G>A	XP_024302772.1:n.239-1G>A