Canonical Allele Identifier: CA4485389

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130398948G>C , CM000669.2:g.130398948G>C	GRCh38
NC_000007.13:g.130038789G>C , CM000669.1:g.130038789G>C	GRCh37
NC_000007.12:g.129826025G>C	NCBI36
NG_032164.1:g.47263C>G
NG_032164.2:g.47263C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.1065C>G MANE Select	ENSP00000223208.4:p.Ser355Arg
ENST00000343969.10:c.858C>G	ENSP00000342738.6:p.Ser286Arg
ENST00000480206.2:c.*1577C>G	ENSP00000502099.1:n.*1577C>G
ENST00000484549.6:c.*1237C>G	ENSP00000419078.2:n.*1237C>G
ENST00000492389.6:c.869C>G	ENSP00000419192.2:n.869C>G
ENST00000541543.6:c.1056C>G	ENSP00000445888.2:p.Ser352Arg
ENST00000674539.1:c.*73C>G	ENSP00000502834.1:n.*73C>G
ENST00000674630.1:c.*611C>G	ENSP00000502521.1:n.*611C>G
ENST00000675138.1:c.1110C>G	ENSP00000501597.1:p.Ser370Arg
ENST00000675168.1:c.1017C>G	ENSP00000501563.1:p.Ser339Arg
ENST00000675328.1:n.875C>G
ENST00000675542.1:n.1030C>G
ENST00000675563.1:c.456C>G	ENSP00000502483.1:p.Ser152Arg
ENST00000675596.1:c.849C>G	ENSP00000501735.1:p.Ser283Arg
ENST00000675649.1:c.882C>G	ENSP00000502385.1:p.Ser294Arg
ENST00000675721.1:c.*1008C>G	ENSP00000502026.1:n.*1008C>G
ENST00000675803.1:c.1026C>G	ENSP00000502477.1:p.Ser342Arg
ENST00000675813.1:c.*969C>G	ENSP00000502785.1:n.*969C>G
ENST00000675935.1:c.1056C>G	ENSP00000501731.1:p.Ser352Arg
ENST00000675962.1:c.801C>G	ENSP00000502478.1:p.Ser267Arg
ENST00000676115.1:c.*986C>G	ENSP00000502631.1:n.*986C>G
ENST00000676243.1:c.1074C>G	ENSP00000501717.1:p.Ser358Arg
ENST00000676312.1:c.1026C>G	ENSP00000502312.1:p.Ser342Arg
ENST00000223208.9:c.1065C>G	ENSP00000223208.4:p.Ser355Arg
ENST00000343969.9:c.849C>G	ENSP00000342738.5:p.Ser283Arg
ENST00000484549.5:c.*611C>G	ENSP00000419078.1:n.*611C>G
ENST00000485736.5:n.748C>G
ENST00000541543.5:c.801C>G	ENSP00000445888.1:p.Ser267Arg
ENST00000603513.1:n.2262C>G
NM_001257158.1:c.849C>G	NP_001244087.1:p.Ser283Arg
NM_001257159.1:c.801C>G	NP_001244088.1:p.Ser267Arg
NM_018718.2:c.1065C>G	NP_061188.1:p.Ser355Arg
NR_046443.1:n.1233C>G
XM_011516708.1:c.1110C>G	XP_011515010.1:p.Ser370Arg
XM_011516709.1:c.960C>G	XP_011515011.1:p.Ser320Arg
XM_011516710.1:c.960C>G	XP_011515012.1:p.Ser320Arg
XM_011516711.1:c.960C>G	XP_011515013.1:p.Ser320Arg
XM_011516712.1:c.894C>G	XP_011515014.1:p.Ser298Arg
XM_011516709.3:c.960C>G	XP_011515011.1:p.Ser320Arg
XM_011516710.3:c.960C>G	XP_011515012.1:p.Ser320Arg
XM_024447004.1:c.1026C>G	XP_024302772.1:p.Ser342Arg
NM_018718.3:c.1065C>G MANE Select	NP_061188.1:p.Ser355Arg
NM_001257158.2:c.849C>G	NP_001244087.1:p.Ser283Arg
NR_046443.2:n.1039C>G
NM_001257159.2:c.801C>G	NP_001244088.1:p.Ser267Arg