Canonical Allele Identifier: CA166902838

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130400101G>C , CM000669.2:g.130400101G>C	GRCh38
NC_000007.13:g.130039942G>C , CM000669.1:g.130039942G>C	GRCh37
NC_000007.12:g.129827178G>C	NCBI36
NG_032164.1:g.46110C>G
NG_032164.2:g.46110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.911C>G MANE Select	ENSP00000223208.4:p.Pro304Arg
ENST00000343969.10:c.766+597C>G	ENSP00000342738.6:n.766+597C>G
ENST00000480206.2:c.*424C>G	ENSP00000502099.1:n.*424C>G
ENST00000484549.6:c.*1083C>G	ENSP00000419078.2:n.*1083C>G
ENST00000492389.6:c.777+606C>G	ENSP00000419192.2:n.777+606C>G
ENST00000541543.6:c.902C>G	ENSP00000445888.2:p.Pro301Arg
ENST00000674539.1:c.423-1062C>G	ENSP00000502834.1:n.423-1062C>G
ENST00000674630.1:c.*457C>G	ENSP00000502521.1:n.*457C>G
ENST00000675138.1:c.956C>G	ENSP00000501597.1:p.Pro319Arg
ENST00000675168.1:c.863C>G	ENSP00000501563.1:p.Pro288Arg
ENST00000675328.1:n.721C>G
ENST00000675542.1:n.876C>G
ENST00000675563.1:c.302C>G	ENSP00000502483.1:p.Pro101Arg
ENST00000675596.1:c.757+606C>G	ENSP00000501735.1:n.757+606C>G
ENST00000675649.1:c.728C>G	ENSP00000502385.1:p.Pro243Arg
ENST00000675721.1:c.*854C>G	ENSP00000502026.1:n.*854C>G
ENST00000675803.1:c.872C>G	ENSP00000502477.1:p.Pro291Arg
ENST00000675813.1:c.*815C>G	ENSP00000502785.1:n.*815C>G
ENST00000675935.1:c.902C>G	ENSP00000501731.1:p.Pro301Arg
ENST00000675962.1:c.709+606C>G	ENSP00000502478.1:n.709+606C>G
ENST00000676115.1:c.*832C>G	ENSP00000502631.1:n.*832C>G
ENST00000676243.1:c.920C>G	ENSP00000501717.1:p.Pro307Arg
ENST00000676312.1:c.872C>G	ENSP00000502312.1:p.Pro291Arg
ENST00000223208.9:c.911C>G	ENSP00000223208.4:p.Pro304Arg
ENST00000343969.9:c.757+606C>G	ENSP00000342738.5:n.757+606C>G
ENST00000484549.5:c.*457C>G	ENSP00000419078.1:n.*457C>G
ENST00000485736.5:n.594C>G
ENST00000541543.5:c.709+606C>G	ENSP00000445888.1:n.709+606C>G
ENST00000603513.1:n.1109C>G
NM_001257158.1:c.757+606C>G	NP_001244087.1:n.757+606C>G
NM_001257159.1:c.709+606C>G	NP_001244088.1:n.709+606C>G
NM_018718.2:c.911C>G	NP_061188.1:p.Pro304Arg
NR_046443.1:n.1079C>G
XM_011516708.1:c.956C>G	XP_011515010.1:p.Pro319Arg
XM_011516709.1:c.806C>G	XP_011515011.1:p.Pro269Arg
XM_011516710.1:c.806C>G	XP_011515012.1:p.Pro269Arg
XM_011516711.1:c.806C>G	XP_011515013.1:p.Pro269Arg
XM_011516712.1:c.802+606C>G	XP_011515014.1:n.802+606C>G
XM_011516709.3:c.806C>G	XP_011515011.1:p.Pro269Arg
XM_011516710.3:c.806C>G	XP_011515012.1:p.Pro269Arg
XM_024447004.1:c.872C>G	XP_024302772.1:p.Pro291Arg
NM_018718.3:c.911C>G MANE Select	NP_061188.1:p.Pro304Arg
NM_001257158.2:c.757+606C>G	NP_001244087.1:n.757+606C>G
NR_046443.2:n.885C>G
NM_001257159.2:c.709+606C>G	NP_001244088.1:n.709+606C>G