Canonical Allele Identifier: CA4485401

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130398976T>C , CM000669.2:g.130398976T>C	GRCh38
NC_000007.13:g.130038817T>C , CM000669.1:g.130038817T>C	GRCh37
NC_000007.12:g.129826053T>C	NCBI36
NG_032164.1:g.47235A>G
NG_032164.2:g.47235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.1037A>G MANE Select	ENSP00000223208.4:p.Gln346Arg
ENST00000343969.10:c.830A>G	ENSP00000342738.6:p.Gln277Arg
ENST00000480206.2:c.*1549A>G	ENSP00000502099.1:n.*1549A>G
ENST00000484549.6:c.*1209A>G	ENSP00000419078.2:n.*1209A>G
ENST00000492389.6:c.841A>G	ENSP00000419192.2:n.841A>G
ENST00000541543.6:c.1028A>G	ENSP00000445888.2:p.Gln343Arg
ENST00000674539.1:c.*45A>G	ENSP00000502834.1:n.*45A>G
ENST00000674630.1:c.*583A>G	ENSP00000502521.1:n.*583A>G
ENST00000675138.1:c.1082A>G	ENSP00000501597.1:p.Gln361Arg
ENST00000675168.1:c.989A>G	ENSP00000501563.1:p.Gln330Arg
ENST00000675328.1:n.847A>G
ENST00000675542.1:n.1002A>G
ENST00000675563.1:c.428A>G	ENSP00000502483.1:p.Gln143Arg
ENST00000675596.1:c.821A>G	ENSP00000501735.1:p.Gln274Arg
ENST00000675649.1:c.854A>G	ENSP00000502385.1:p.Gln285Arg
ENST00000675721.1:c.*980A>G	ENSP00000502026.1:n.*980A>G
ENST00000675803.1:c.998A>G	ENSP00000502477.1:p.Gln333Arg
ENST00000675813.1:c.*941A>G	ENSP00000502785.1:n.*941A>G
ENST00000675935.1:c.1028A>G	ENSP00000501731.1:p.Gln343Arg
ENST00000675962.1:c.773A>G	ENSP00000502478.1:p.Gln258Arg
ENST00000676115.1:c.*958A>G	ENSP00000502631.1:n.*958A>G
ENST00000676243.1:c.1046A>G	ENSP00000501717.1:p.Gln349Arg
ENST00000676312.1:c.998A>G	ENSP00000502312.1:p.Gln333Arg
ENST00000223208.9:c.1037A>G	ENSP00000223208.4:p.Gln346Arg
ENST00000343969.9:c.821A>G	ENSP00000342738.5:p.Gln274Arg
ENST00000484549.5:c.*583A>G	ENSP00000419078.1:n.*583A>G
ENST00000485736.5:n.720A>G
ENST00000541543.5:c.773A>G	ENSP00000445888.1:p.Gln258Arg
ENST00000603513.1:n.2234A>G
NM_001257158.1:c.821A>G	NP_001244087.1:p.Gln274Arg
NM_001257159.1:c.773A>G	NP_001244088.1:p.Gln258Arg
NM_018718.2:c.1037A>G	NP_061188.1:p.Gln346Arg
NR_046443.1:n.1205A>G
XM_011516708.1:c.1082A>G	XP_011515010.1:p.Gln361Arg
XM_011516709.1:c.932A>G	XP_011515011.1:p.Gln311Arg
XM_011516710.1:c.932A>G	XP_011515012.1:p.Gln311Arg
XM_011516711.1:c.932A>G	XP_011515013.1:p.Gln311Arg
XM_011516712.1:c.866A>G	XP_011515014.1:p.Gln289Arg
XM_011516709.3:c.932A>G	XP_011515011.1:p.Gln311Arg
XM_011516710.3:c.932A>G	XP_011515012.1:p.Gln311Arg
XM_024447004.1:c.998A>G	XP_024302772.1:p.Gln333Arg
NM_018718.3:c.1037A>G MANE Select	NP_061188.1:p.Gln346Arg
NM_001257158.2:c.821A>G	NP_001244087.1:p.Gln274Arg
NR_046443.2:n.1011A>G
NM_001257159.2:c.773A>G	NP_001244088.1:p.Gln258Arg