Canonical Allele Identifier: CA4485417
Community Standard Title: NM_018718.3(CEP41):c.976C>T (p.Arg326Ter)
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130399037G>A , CM000669.2:g.130399037G>A GRCh38
NC_000007.13:g.130038878G>A , CM000669.1:g.130038878G>A GRCh37
NC_000007.12:g.129826114G>A NCBI36
NG_032164.1:g.47174C>T
NG_032164.2:g.47174C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.976C>T MANE Select NP_061188.1:p.Arg326Ter
ENST00000223208.10:c.976C>T MANE Select ENSP00000223208.4:p.Arg326Ter
NM_001257158.1:c.760C>T NP_001244087.1:p.Arg254Ter
NM_001257158.2:c.760C>T NP_001244087.1:p.Arg254Ter
NM_001257159.1:c.712C>T NP_001244088.1:p.Arg238Ter
NM_001257159.2:c.712C>T NP_001244088.1:p.Arg238Ter
NM_018718.2:c.976C>T NP_061188.1:p.Arg326Ter
NR_046443.1:n.1144C>T
NR_046443.2:n.950C>T
ENST00000223208.9:c.976C>T ENSP00000223208.4:p.Arg326Ter
ENST00000343969.10:c.769C>T ENSP00000342738.6:p.Arg257Ter
ENST00000343969.9:c.760C>T ENSP00000342738.5:p.Arg254Ter
ENST00000480206.2:c.*1488C>T ENSP00000502099.1:n.*1488C>T
ENST00000484549.5:c.*522C>T ENSP00000419078.1:n.*522C>T
ENST00000484549.6:c.*1148C>T ENSP00000419078.2:n.*1148C>T
ENST00000485736.5:n.659C>T
ENST00000492389.6:c.780C>T ENSP00000419192.2:n.780C>T
ENST00000541543.5:c.712C>T ENSP00000445888.1:p.Arg238Ter
ENST00000541543.6:c.967C>T ENSP00000445888.2:p.Arg323Ter
ENST00000603513.1:n.2173C>T
ENST00000674539.1:c.425C>T ENSP00000502834.1:p.Pro142Leu
ENST00000674630.1:c.*522C>T ENSP00000502521.1:n.*522C>T
ENST00000675138.1:c.1021C>T ENSP00000501597.1:p.Arg341Ter
ENST00000675168.1:c.928C>T ENSP00000501563.1:p.Arg310Ter
ENST00000675328.1:n.786C>T
ENST00000675542.1:n.941C>T
ENST00000675563.1:c.367C>T ENSP00000502483.1:p.Arg123Ter
ENST00000675596.1:c.760C>T ENSP00000501735.1:p.Arg254Ter
ENST00000675649.1:c.793C>T ENSP00000502385.1:p.Arg265Ter
ENST00000675721.1:c.*919C>T ENSP00000502026.1:n.*919C>T
ENST00000675803.1:c.937C>T ENSP00000502477.1:p.Arg313Ter
ENST00000675813.1:c.*880C>T ENSP00000502785.1:n.*880C>T
ENST00000675935.1:c.967C>T ENSP00000501731.1:p.Arg323Ter
ENST00000675962.1:c.712C>T ENSP00000502478.1:p.Arg238Ter
ENST00000676115.1:c.*897C>T ENSP00000502631.1:n.*897C>T
ENST00000676243.1:c.985C>T ENSP00000501717.1:p.Arg329Ter
ENST00000676312.1:c.937C>T ENSP00000502312.1:p.Arg313Ter
XM_011516708.1:c.1021C>T XP_011515010.1:p.Arg341Ter
XM_011516709.1:c.871C>T XP_011515011.1:p.Arg291Ter
XM_011516709.3:c.871C>T XP_011515011.1:p.Arg291Ter
XM_011516710.1:c.871C>T XP_011515012.1:p.Arg291Ter
XM_011516710.3:c.871C>T XP_011515012.1:p.Arg291Ter
XM_011516711.1:c.871C>T XP_011515013.1:p.Arg291Ter
XM_011516712.1:c.805C>T XP_011515014.1:p.Arg269Ter
XM_024447004.1:c.937C>T XP_024302772.1:p.Arg313Ter