Canonical Allele Identifier: CA4485404

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130398981G>A , CM000669.2:g.130398981G>A	GRCh38
NC_000007.13:g.130038822G>A , CM000669.1:g.130038822G>A	GRCh37
NC_000007.12:g.129826058G>A	NCBI36
NG_032164.1:g.47230C>T
NG_032164.2:g.47230C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.1032C>T MANE Select	ENSP00000223208.4:p.Ser344=
ENST00000343969.10:c.825C>T	ENSP00000342738.6:p.Ser275=
ENST00000480206.2:c.*1544C>T	ENSP00000502099.1:n.*1544C>T
ENST00000484549.6:c.*1204C>T	ENSP00000419078.2:n.*1204C>T
ENST00000492389.6:c.836C>T	ENSP00000419192.2:n.836C>T
ENST00000541543.6:c.1023C>T	ENSP00000445888.2:p.Ser341=
ENST00000674539.1:c.*40C>T	ENSP00000502834.1:n.*40C>T
ENST00000674630.1:c.*578C>T	ENSP00000502521.1:n.*578C>T
ENST00000675138.1:c.1077C>T	ENSP00000501597.1:p.Ser359=
ENST00000675168.1:c.984C>T	ENSP00000501563.1:p.Ser328=
ENST00000675328.1:n.842C>T
ENST00000675542.1:n.997C>T
ENST00000675563.1:c.423C>T	ENSP00000502483.1:p.Ser141=
ENST00000675596.1:c.816C>T	ENSP00000501735.1:p.Ser272=
ENST00000675649.1:c.849C>T	ENSP00000502385.1:p.Ser283=
ENST00000675721.1:c.*975C>T	ENSP00000502026.1:n.*975C>T
ENST00000675803.1:c.993C>T	ENSP00000502477.1:p.Ser331=
ENST00000675813.1:c.*936C>T	ENSP00000502785.1:n.*936C>T
ENST00000675935.1:c.1023C>T	ENSP00000501731.1:p.Ser341=
ENST00000675962.1:c.768C>T	ENSP00000502478.1:p.Ser256=
ENST00000676115.1:c.*953C>T	ENSP00000502631.1:n.*953C>T
ENST00000676243.1:c.1041C>T	ENSP00000501717.1:p.Ser347=
ENST00000676312.1:c.993C>T	ENSP00000502312.1:p.Ser331=
ENST00000223208.9:c.1032C>T	ENSP00000223208.4:p.Ser344=
ENST00000343969.9:c.816C>T	ENSP00000342738.5:p.Ser272=
ENST00000484549.5:c.*578C>T	ENSP00000419078.1:n.*578C>T
ENST00000485736.5:n.715C>T
ENST00000541543.5:c.768C>T	ENSP00000445888.1:p.Ser256=
ENST00000603513.1:n.2229C>T
NM_001257158.1:c.816C>T	NP_001244087.1:p.Ser272=
NM_001257159.1:c.768C>T	NP_001244088.1:p.Ser256=
NM_018718.2:c.1032C>T	NP_061188.1:p.Ser344=
NR_046443.1:n.1200C>T
XM_011516708.1:c.1077C>T	XP_011515010.1:p.Ser359=
XM_011516709.1:c.927C>T	XP_011515011.1:p.Ser309=
XM_011516710.1:c.927C>T	XP_011515012.1:p.Ser309=
XM_011516711.1:c.927C>T	XP_011515013.1:p.Ser309=
XM_011516712.1:c.861C>T	XP_011515014.1:p.Ser287=
XM_011516709.3:c.927C>T	XP_011515011.1:p.Ser309=
XM_011516710.3:c.927C>T	XP_011515012.1:p.Ser309=
XM_024447004.1:c.993C>T	XP_024302772.1:p.Ser331=
NM_018718.3:c.1032C>T MANE Select	NP_061188.1:p.Ser344=
NM_001257158.2:c.816C>T	NP_001244087.1:p.Ser272=
NR_046443.2:n.1006C>T
NM_001257159.2:c.768C>T	NP_001244088.1:p.Ser256=