Canonical Allele Identifier: CA4485496

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130400811T>G , CM000669.2:g.130400811T>G	GRCh38
NC_000007.13:g.130040652T>G , CM000669.1:g.130040652T>G	GRCh37
NC_000007.12:g.129827888T>G	NCBI36
NG_032164.1:g.45400A>C
NG_032164.2:g.45400A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.653A>C MANE Select	ENSP00000223208.4:p.His218Pro
ENST00000343969.10:c.653A>C	ENSP00000342738.6:p.His218Pro
ENST00000471201.6:c.866A>C	ENSP00000417463.2:p.His289Pro
ENST00000472739.6:c.548A>C	ENSP00000417593.2:p.His183Pro
ENST00000475282.6:c.548A>C	ENSP00000418363.2:p.His183Pro
ENST00000477003.6:c.*255A>C	ENSP00000420670.2:n.*255A>C
ENST00000480206.2:c.653A>C	ENSP00000502099.1:p.His218Pro
ENST00000484549.6:c.*825A>C	ENSP00000419078.2:n.*825A>C
ENST00000492389.6:c.673A>C	ENSP00000419192.2:n.673A>C
ENST00000541543.6:c.644A>C	ENSP00000445888.2:p.His215Pro
ENST00000674539.1:c.423-1772A>C	ENSP00000502834.1:n.423-1772A>C
ENST00000674630.1:c.*199A>C	ENSP00000502521.1:n.*199A>C
ENST00000675138.1:c.698A>C	ENSP00000501597.1:p.His233Pro
ENST00000675168.1:c.605A>C	ENSP00000501563.1:p.His202Pro
ENST00000675328.1:n.463A>C
ENST00000675542.1:n.618A>C
ENST00000675563.1:c.44A>C	ENSP00000502483.1:p.His15Pro
ENST00000675596.1:c.653A>C	ENSP00000501735.1:p.His218Pro
ENST00000675649.1:c.575-557A>C	ENSP00000502385.1:n.575-557A>C
ENST00000675721.1:c.*596A>C	ENSP00000502026.1:n.*596A>C
ENST00000675803.1:c.614A>C	ENSP00000502477.1:p.His205Pro
ENST00000675813.1:c.*557A>C	ENSP00000502785.1:n.*557A>C
ENST00000675935.1:c.644A>C	ENSP00000501731.1:p.His215Pro
ENST00000675962.1:c.605A>C	ENSP00000502478.1:p.His202Pro
ENST00000676115.1:c.*574A>C	ENSP00000502631.1:n.*574A>C
ENST00000676243.1:c.653A>C	ENSP00000501717.1:p.His218Pro
ENST00000676312.1:c.614A>C	ENSP00000502312.1:p.His205Pro
ENST00000223208.9:c.653A>C	ENSP00000223208.4:p.His218Pro
ENST00000343969.9:c.653A>C	ENSP00000342738.5:p.His218Pro
ENST00000480206.1:n.118A>C
ENST00000484549.5:c.*199A>C	ENSP00000419078.1:n.*199A>C
ENST00000485736.5:n.336A>C
ENST00000492389.5:c.548A>C	ENSP00000419192.1:p.His183Pro
ENST00000541543.5:c.605A>C	ENSP00000445888.1:p.His202Pro
ENST00000603513.1:n.399A>C
NM_001257158.1:c.653A>C	NP_001244087.1:p.His218Pro
NM_001257159.1:c.605A>C	NP_001244088.1:p.His202Pro
NM_018718.2:c.653A>C	NP_061188.1:p.His218Pro
NR_046443.1:n.821A>C
XM_011516708.1:c.698A>C	XP_011515010.1:p.His233Pro
XM_011516709.1:c.548A>C	XP_011515011.1:p.His183Pro
XM_011516710.1:c.548A>C	XP_011515012.1:p.His183Pro
XM_011516711.1:c.548A>C	XP_011515013.1:p.His183Pro
XM_011516712.1:c.698A>C	XP_011515014.1:p.His233Pro
XM_011516709.3:c.548A>C	XP_011515011.1:p.His183Pro
XM_011516710.3:c.548A>C	XP_011515012.1:p.His183Pro
XM_024447004.1:c.614A>C	XP_024302772.1:p.His205Pro
NM_018718.3:c.653A>C MANE Select	NP_061188.1:p.His218Pro
NM_001257158.2:c.653A>C	NP_001244087.1:p.His218Pro
NR_046443.2:n.627A>C
NM_001257159.2:c.605A>C	NP_001244088.1:p.His202Pro