Canonical Allele Identifier: CA166903776

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130401921G>C , CM000669.2:g.130401921G>C	GRCh38
NC_000007.13:g.130041762G>C , CM000669.1:g.130041762G>C	GRCh37
NC_000007.12:g.129828998G>C	NCBI36
NG_032164.1:g.44290C>G
NG_032164.2:g.44290C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018718.3:c.602C>G MANE Select	NP_061188.1:p.Ser201Cys
ENST00000223208.10:c.602C>G MANE Select	ENSP00000223208.4:p.Ser201Cys
NM_001257158.1:c.602C>G	NP_001244087.1:p.Ser201Cys
NM_001257158.2:c.602C>G	NP_001244087.1:p.Ser201Cys
NM_001257159.1:c.554C>G	NP_001244088.1:p.Ser185Cys
NM_001257159.2:c.554C>G	NP_001244088.1:p.Ser185Cys
NM_018718.2:c.602C>G	NP_061188.1:p.Ser201Cys
NR_046443.1:n.770C>G
NR_046443.2:n.576C>G
ENST00000223208.9:c.602C>G	ENSP00000223208.4:p.Ser201Cys
ENST00000343969.10:c.602C>G	ENSP00000342738.6:p.Ser201Cys
ENST00000343969.9:c.602C>G	ENSP00000342738.5:p.Ser201Cys
ENST00000471201.6:c.815C>G	ENSP00000417463.2:p.Ser272Cys
ENST00000472739.6:c.497C>G	ENSP00000417593.2:p.Ser166Cys
ENST00000475282.6:c.497C>G	ENSP00000418363.2:p.Ser166Cys
ENST00000477003.6:c.*204C>G	ENSP00000420670.2:n.*204C>G
ENST00000480206.1:n.67C>G
ENST00000480206.2:c.602C>G	ENSP00000502099.1:p.Ser201Cys
ENST00000484549.5:c.*148C>G	ENSP00000419078.1:n.*148C>G
ENST00000484549.6:c.*774C>G	ENSP00000419078.2:n.*774C>G
ENST00000492389.5:c.497C>G	ENSP00000419192.1:p.Ser166Cys
ENST00000492389.6:c.622C>G	ENSP00000419192.2:n.622C>G
ENST00000541543.5:c.554C>G	ENSP00000445888.1:p.Ser185Cys
ENST00000541543.6:c.593C>G	ENSP00000445888.2:p.Ser198Cys
ENST00000674539.1:c.422+2643C>G	ENSP00000502834.1:n.422+2643C>G
ENST00000674630.1:c.*148C>G	ENSP00000502521.1:n.*148C>G
ENST00000675138.1:c.647C>G	ENSP00000501597.1:p.Ser216Cys
ENST00000675168.1:c.554C>G	ENSP00000501563.1:p.Ser185Cys
ENST00000675328.1:n.412C>G
ENST00000675542.1:n.567C>G
ENST00000675563.1:c.-8C>G	ENSP00000502483.1:n.-8C>G
ENST00000675596.1:c.602C>G	ENSP00000501735.1:p.Ser201Cys
ENST00000675649.1:c.574+727C>G	ENSP00000502385.1:n.574+727C>G
ENST00000675721.1:c.*545C>G	ENSP00000502026.1:n.*545C>G
ENST00000675803.1:c.563C>G	ENSP00000502477.1:p.Ser188Cys
ENST00000675813.1:c.*506C>G	ENSP00000502785.1:n.*506C>G
ENST00000675935.1:c.593C>G	ENSP00000501731.1:p.Ser198Cys
ENST00000675962.1:c.554C>G	ENSP00000502478.1:p.Ser185Cys
ENST00000676115.1:c.*523C>G	ENSP00000502631.1:n.*523C>G
ENST00000676243.1:c.602C>G	ENSP00000501717.1:p.Ser201Cys
ENST00000676312.1:c.563C>G	ENSP00000502312.1:p.Ser188Cys
XM_011516708.1:c.647C>G	XP_011515010.1:p.Ser216Cys
XM_011516709.1:c.497C>G	XP_011515011.1:p.Ser166Cys
XM_011516709.3:c.497C>G	XP_011515011.1:p.Ser166Cys
XM_011516710.1:c.497C>G	XP_011515012.1:p.Ser166Cys
XM_011516710.3:c.497C>G	XP_011515012.1:p.Ser166Cys
XM_011516711.1:c.497C>G	XP_011515013.1:p.Ser166Cys
XM_011516712.1:c.647C>G	XP_011515014.1:p.Ser216Cys
XM_024447004.1:c.563C>G	XP_024302772.1:p.Ser188Cys