Canonical Allele Identifier: CA4485440

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130400130T>C , CM000669.2:g.130400130T>C	GRCh38
NC_000007.13:g.130039971T>C , CM000669.1:g.130039971T>C	GRCh37
NC_000007.12:g.129827207T>C	NCBI36
NG_032164.1:g.46081A>G
NG_032164.2:g.46081A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018718.3:c.882A>G MANE Select	NP_061188.1:p.Leu294=
ENST00000223208.10:c.882A>G MANE Select	ENSP00000223208.4:p.Leu294=
NM_001257158.1:c.757+577A>G	NP_001244087.1:n.757+577A>G
NM_001257158.2:c.757+577A>G	NP_001244087.1:n.757+577A>G
NM_001257159.1:c.709+577A>G	NP_001244088.1:n.709+577A>G
NM_001257159.2:c.709+577A>G	NP_001244088.1:n.709+577A>G
NM_018718.2:c.882A>G	NP_061188.1:p.Leu294=
NR_046443.1:n.1050A>G
NR_046443.2:n.856A>G
ENST00000223208.9:c.882A>G	ENSP00000223208.4:p.Leu294=
ENST00000343969.10:c.766+568A>G	ENSP00000342738.6:n.766+568A>G
ENST00000343969.9:c.757+577A>G	ENSP00000342738.5:n.757+577A>G
ENST00000480206.2:c.*395A>G	ENSP00000502099.1:n.*395A>G
ENST00000484549.5:c.*428A>G	ENSP00000419078.1:n.*428A>G
ENST00000484549.6:c.*1054A>G	ENSP00000419078.2:n.*1054A>G
ENST00000485736.5:n.565A>G
ENST00000492389.6:c.777+577A>G	ENSP00000419192.2:n.777+577A>G
ENST00000541543.5:c.709+577A>G	ENSP00000445888.1:n.709+577A>G
ENST00000541543.6:c.873A>G	ENSP00000445888.2:p.Leu291=
ENST00000603513.1:n.1080A>G
ENST00000674539.1:c.423-1091A>G	ENSP00000502834.1:n.423-1091A>G
ENST00000674630.1:c.*428A>G	ENSP00000502521.1:n.*428A>G
ENST00000675138.1:c.927A>G	ENSP00000501597.1:p.Leu309=
ENST00000675168.1:c.834A>G	ENSP00000501563.1:p.Leu278=
ENST00000675328.1:n.692A>G
ENST00000675542.1:n.847A>G
ENST00000675563.1:c.273A>G	ENSP00000502483.1:p.Leu91=
ENST00000675596.1:c.757+577A>G	ENSP00000501735.1:n.757+577A>G
ENST00000675649.1:c.699A>G	ENSP00000502385.1:p.Leu233=
ENST00000675721.1:c.*825A>G	ENSP00000502026.1:n.*825A>G
ENST00000675803.1:c.843A>G	ENSP00000502477.1:p.Leu281=
ENST00000675813.1:c.*786A>G	ENSP00000502785.1:n.*786A>G
ENST00000675935.1:c.873A>G	ENSP00000501731.1:p.Leu291=
ENST00000675962.1:c.709+577A>G	ENSP00000502478.1:n.709+577A>G
ENST00000676115.1:c.*803A>G	ENSP00000502631.1:n.*803A>G
ENST00000676243.1:c.891A>G	ENSP00000501717.1:p.Leu297=
ENST00000676312.1:c.843A>G	ENSP00000502312.1:p.Leu281=
XM_011516708.1:c.927A>G	XP_011515010.1:p.Leu309=
XM_011516709.1:c.777A>G	XP_011515011.1:p.Leu259=
XM_011516709.3:c.777A>G	XP_011515011.1:p.Leu259=
XM_011516710.1:c.777A>G	XP_011515012.1:p.Leu259=
XM_011516710.3:c.777A>G	XP_011515012.1:p.Leu259=
XM_011516711.1:c.777A>G	XP_011515013.1:p.Leu259=
XM_011516712.1:c.802+577A>G	XP_011515014.1:n.802+577A>G
XM_024447004.1:c.843A>G	XP_024302772.1:p.Leu281=