Canonical Allele Identifier: CA369286492

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130398950T>G , CM000669.2:g.130398950T>G	GRCh38
NC_000007.13:g.130038791T>G , CM000669.1:g.130038791T>G	GRCh37
NC_000007.12:g.129826027T>G	NCBI36
NG_032164.1:g.47261A>C
NG_032164.2:g.47261A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.1063A>C MANE Select	ENSP00000223208.4:p.Ser355Arg
ENST00000343969.10:c.856A>C	ENSP00000342738.6:p.Ser286Arg
ENST00000480206.2:c.*1575A>C	ENSP00000502099.1:n.*1575A>C
ENST00000484549.6:c.*1235A>C	ENSP00000419078.2:n.*1235A>C
ENST00000492389.6:c.867A>C	ENSP00000419192.2:n.867A>C
ENST00000541543.6:c.1054A>C	ENSP00000445888.2:p.Ser352Arg
ENST00000674539.1:c.*71A>C	ENSP00000502834.1:n.*71A>C
ENST00000674630.1:c.*609A>C	ENSP00000502521.1:n.*609A>C
ENST00000675138.1:c.1108A>C	ENSP00000501597.1:p.Ser370Arg
ENST00000675168.1:c.1015A>C	ENSP00000501563.1:p.Ser339Arg
ENST00000675328.1:n.873A>C
ENST00000675542.1:n.1028A>C
ENST00000675563.1:c.454A>C	ENSP00000502483.1:p.Ser152Arg
ENST00000675596.1:c.847A>C	ENSP00000501735.1:p.Ser283Arg
ENST00000675649.1:c.880A>C	ENSP00000502385.1:p.Ser294Arg
ENST00000675721.1:c.*1006A>C	ENSP00000502026.1:n.*1006A>C
ENST00000675803.1:c.1024A>C	ENSP00000502477.1:p.Ser342Arg
ENST00000675813.1:c.*967A>C	ENSP00000502785.1:n.*967A>C
ENST00000675935.1:c.1054A>C	ENSP00000501731.1:p.Ser352Arg
ENST00000675962.1:c.799A>C	ENSP00000502478.1:p.Ser267Arg
ENST00000676115.1:c.*984A>C	ENSP00000502631.1:n.*984A>C
ENST00000676243.1:c.1072A>C	ENSP00000501717.1:p.Ser358Arg
ENST00000676312.1:c.1024A>C	ENSP00000502312.1:p.Ser342Arg
ENST00000223208.9:c.1063A>C	ENSP00000223208.4:p.Ser355Arg
ENST00000343969.9:c.847A>C	ENSP00000342738.5:p.Ser283Arg
ENST00000484549.5:c.*609A>C	ENSP00000419078.1:n.*609A>C
ENST00000485736.5:n.746A>C
ENST00000541543.5:c.799A>C	ENSP00000445888.1:p.Ser267Arg
ENST00000603513.1:n.2260A>C
NM_001257158.1:c.847A>C	NP_001244087.1:p.Ser283Arg
NM_001257159.1:c.799A>C	NP_001244088.1:p.Ser267Arg
NM_018718.2:c.1063A>C	NP_061188.1:p.Ser355Arg
NR_046443.1:n.1231A>C
XM_011516708.1:c.1108A>C	XP_011515010.1:p.Ser370Arg
XM_011516709.1:c.958A>C	XP_011515011.1:p.Ser320Arg
XM_011516710.1:c.958A>C	XP_011515012.1:p.Ser320Arg
XM_011516711.1:c.958A>C	XP_011515013.1:p.Ser320Arg
XM_011516712.1:c.892A>C	XP_011515014.1:p.Ser298Arg
XM_011516709.3:c.958A>C	XP_011515011.1:p.Ser320Arg
XM_011516710.3:c.958A>C	XP_011515012.1:p.Ser320Arg
XM_024447004.1:c.1024A>C	XP_024302772.1:p.Ser342Arg
NM_018718.3:c.1063A>C MANE Select	NP_061188.1:p.Ser355Arg
NM_001257158.2:c.847A>C	NP_001244087.1:p.Ser283Arg
NR_046443.2:n.1037A>C
NM_001257159.2:c.799A>C	NP_001244088.1:p.Ser267Arg