Canonical Allele Identifier: CA4485411

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130399013C>T , CM000669.2:g.130399013C>T	GRCh38
NC_000007.13:g.130038854C>T , CM000669.1:g.130038854C>T	GRCh37
NC_000007.12:g.129826090C>T	NCBI36
NG_032164.1:g.47198G>A
NG_032164.2:g.47198G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.1000G>A MANE Select	ENSP00000223208.4:p.Gly334Arg
ENST00000343969.10:c.793G>A	ENSP00000342738.6:p.Gly265Arg
ENST00000480206.2:c.*1512G>A	ENSP00000502099.1:n.*1512G>A
ENST00000484549.6:c.*1172G>A	ENSP00000419078.2:n.*1172G>A
ENST00000492389.6:c.804G>A	ENSP00000419192.2:n.804G>A
ENST00000541543.6:c.991G>A	ENSP00000445888.2:p.Gly331Arg
ENST00000674539.1:c.*8G>A	ENSP00000502834.1:n.*8G>A
ENST00000674630.1:c.*546G>A	ENSP00000502521.1:n.*546G>A
ENST00000675138.1:c.1045G>A	ENSP00000501597.1:p.Gly349Arg
ENST00000675168.1:c.952G>A	ENSP00000501563.1:p.Gly318Arg
ENST00000675328.1:n.810G>A
ENST00000675542.1:n.965G>A
ENST00000675563.1:c.391G>A	ENSP00000502483.1:p.Gly131Arg
ENST00000675596.1:c.784G>A	ENSP00000501735.1:p.Gly262Arg
ENST00000675649.1:c.817G>A	ENSP00000502385.1:p.Gly273Arg
ENST00000675721.1:c.*943G>A	ENSP00000502026.1:n.*943G>A
ENST00000675803.1:c.961G>A	ENSP00000502477.1:p.Gly321Arg
ENST00000675813.1:c.*904G>A	ENSP00000502785.1:n.*904G>A
ENST00000675935.1:c.991G>A	ENSP00000501731.1:p.Gly331Arg
ENST00000675962.1:c.736G>A	ENSP00000502478.1:p.Gly246Arg
ENST00000676115.1:c.*921G>A	ENSP00000502631.1:n.*921G>A
ENST00000676243.1:c.1009G>A	ENSP00000501717.1:p.Gly337Arg
ENST00000676312.1:c.961G>A	ENSP00000502312.1:p.Gly321Arg
ENST00000223208.9:c.1000G>A	ENSP00000223208.4:p.Gly334Arg
ENST00000343969.9:c.784G>A	ENSP00000342738.5:p.Gly262Arg
ENST00000484549.5:c.*546G>A	ENSP00000419078.1:n.*546G>A
ENST00000485736.5:n.683G>A
ENST00000541543.5:c.736G>A	ENSP00000445888.1:p.Gly246Arg
ENST00000603513.1:n.2197G>A
NM_001257158.1:c.784G>A	NP_001244087.1:p.Gly262Arg
NM_001257159.1:c.736G>A	NP_001244088.1:p.Gly246Arg
NM_018718.2:c.1000G>A	NP_061188.1:p.Gly334Arg
NR_046443.1:n.1168G>A
XM_011516708.1:c.1045G>A	XP_011515010.1:p.Gly349Arg
XM_011516709.1:c.895G>A	XP_011515011.1:p.Gly299Arg
XM_011516710.1:c.895G>A	XP_011515012.1:p.Gly299Arg
XM_011516711.1:c.895G>A	XP_011515013.1:p.Gly299Arg
XM_011516712.1:c.829G>A	XP_011515014.1:p.Gly277Arg
XM_011516709.3:c.895G>A	XP_011515011.1:p.Gly299Arg
XM_011516710.3:c.895G>A	XP_011515012.1:p.Gly299Arg
XM_024447004.1:c.961G>A	XP_024302772.1:p.Gly321Arg
NM_018718.3:c.1000G>A MANE Select	NP_061188.1:p.Gly334Arg
NM_001257158.2:c.784G>A	NP_001244087.1:p.Gly262Arg
NR_046443.2:n.974G>A
NM_001257159.2:c.736G>A	NP_001244088.1:p.Gly246Arg