Canonical Allele Identifier: CA4485478

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130400710C>T , CM000669.2:g.130400710C>T	GRCh38
NC_000007.13:g.130040551C>T , CM000669.1:g.130040551C>T	GRCh37
NC_000007.12:g.129827787C>T	NCBI36
NG_032164.1:g.45501G>A
NG_032164.2:g.45501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.754G>A MANE Select	ENSP00000223208.4:p.Gly252Arg
ENST00000343969.10:c.754G>A	ENSP00000342738.6:p.Gly252Arg
ENST00000471201.6:c.967G>A	ENSP00000417463.2:p.Gly323Arg
ENST00000472739.6:c.649G>A	ENSP00000417593.2:p.Gly217Arg
ENST00000475282.6:c.649G>A	ENSP00000418363.2:p.Gly217Arg
ENST00000477003.6:c.*356G>A	ENSP00000420670.2:n.*356G>A
ENST00000480206.2:c.754G>A	ENSP00000502099.1:p.Gly252Arg
ENST00000484549.6:c.*926G>A	ENSP00000419078.2:n.*926G>A
ENST00000492389.6:c.774G>A	ENSP00000419192.2:n.774G>A
ENST00000541543.6:c.745G>A	ENSP00000445888.2:p.Gly249Arg
ENST00000674539.1:c.423-1671G>A	ENSP00000502834.1:n.423-1671G>A
ENST00000674630.1:c.*300G>A	ENSP00000502521.1:n.*300G>A
ENST00000675138.1:c.799G>A	ENSP00000501597.1:p.Gly267Arg
ENST00000675168.1:c.706G>A	ENSP00000501563.1:p.Gly236Arg
ENST00000675328.1:n.564G>A
ENST00000675542.1:n.719G>A
ENST00000675563.1:c.145G>A	ENSP00000502483.1:p.Gly49Arg
ENST00000675596.1:c.754G>A	ENSP00000501735.1:p.Gly252Arg
ENST00000675649.1:c.575-456G>A	ENSP00000502385.1:n.575-456G>A
ENST00000675721.1:c.*697G>A	ENSP00000502026.1:n.*697G>A
ENST00000675803.1:c.715G>A	ENSP00000502477.1:p.Gly239Arg
ENST00000675813.1:c.*658G>A	ENSP00000502785.1:n.*658G>A
ENST00000675935.1:c.745G>A	ENSP00000501731.1:p.Gly249Arg
ENST00000675962.1:c.706G>A	ENSP00000502478.1:p.Gly236Arg
ENST00000676115.1:c.*675G>A	ENSP00000502631.1:n.*675G>A
ENST00000676243.1:c.754G>A	ENSP00000501717.1:p.Gly252Arg
ENST00000676312.1:c.715G>A	ENSP00000502312.1:p.Gly239Arg
ENST00000223208.9:c.754G>A	ENSP00000223208.4:p.Gly252Arg
ENST00000343969.9:c.754G>A	ENSP00000342738.5:p.Gly252Arg
ENST00000480206.1:n.219G>A
ENST00000484549.5:c.*300G>A	ENSP00000419078.1:n.*300G>A
ENST00000485736.5:n.437G>A
ENST00000541543.5:c.706G>A	ENSP00000445888.1:p.Gly236Arg
ENST00000603513.1:n.500G>A
NM_001257158.1:c.754G>A	NP_001244087.1:p.Gly252Arg
NM_001257159.1:c.706G>A	NP_001244088.1:p.Gly236Arg
NM_018718.2:c.754G>A	NP_061188.1:p.Gly252Arg
NR_046443.1:n.922G>A
XM_011516708.1:c.799G>A	XP_011515010.1:p.Gly267Arg
XM_011516709.1:c.649G>A	XP_011515011.1:p.Gly217Arg
XM_011516710.1:c.649G>A	XP_011515012.1:p.Gly217Arg
XM_011516711.1:c.649G>A	XP_011515013.1:p.Gly217Arg
XM_011516712.1:c.799G>A	XP_011515014.1:p.Gly267Arg
XM_011516709.3:c.649G>A	XP_011515011.1:p.Gly217Arg
XM_011516710.3:c.649G>A	XP_011515012.1:p.Gly217Arg
XM_024447004.1:c.715G>A	XP_024302772.1:p.Gly239Arg
NM_018718.3:c.754G>A MANE Select	NP_061188.1:p.Gly252Arg
NM_001257158.2:c.754G>A	NP_001244087.1:p.Gly252Arg
NR_046443.2:n.728G>A
NM_001257159.2:c.706G>A	NP_001244088.1:p.Gly236Arg