Canonical Allele Identifier: CA166902123

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130398963A>C , CM000669.2:g.130398963A>C	GRCh38
NC_000007.13:g.130038804A>C , CM000669.1:g.130038804A>C	GRCh37
NC_000007.12:g.129826040A>C	NCBI36
NG_032164.1:g.47248T>G
NG_032164.2:g.47248T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.1050T>G MANE Select	ENSP00000223208.4:p.Gly350=
ENST00000343969.10:c.843T>G	ENSP00000342738.6:p.Gly281=
ENST00000480206.2:c.*1562T>G	ENSP00000502099.1:n.*1562T>G
ENST00000484549.6:c.*1222T>G	ENSP00000419078.2:n.*1222T>G
ENST00000492389.6:c.854T>G	ENSP00000419192.2:n.854T>G
ENST00000541543.6:c.1041T>G	ENSP00000445888.2:p.Gly347=
ENST00000674539.1:c.*58T>G	ENSP00000502834.1:n.*58T>G
ENST00000674630.1:c.*596T>G	ENSP00000502521.1:n.*596T>G
ENST00000675138.1:c.1095T>G	ENSP00000501597.1:p.Gly365=
ENST00000675168.1:c.1002T>G	ENSP00000501563.1:p.Gly334=
ENST00000675328.1:n.860T>G
ENST00000675542.1:n.1015T>G
ENST00000675563.1:c.441T>G	ENSP00000502483.1:p.Gly147=
ENST00000675596.1:c.834T>G	ENSP00000501735.1:p.Gly278=
ENST00000675649.1:c.867T>G	ENSP00000502385.1:p.Gly289=
ENST00000675721.1:c.*993T>G	ENSP00000502026.1:n.*993T>G
ENST00000675803.1:c.1011T>G	ENSP00000502477.1:p.Gly337=
ENST00000675813.1:c.*954T>G	ENSP00000502785.1:n.*954T>G
ENST00000675935.1:c.1041T>G	ENSP00000501731.1:p.Gly347=
ENST00000675962.1:c.786T>G	ENSP00000502478.1:p.Gly262=
ENST00000676115.1:c.*971T>G	ENSP00000502631.1:n.*971T>G
ENST00000676243.1:c.1059T>G	ENSP00000501717.1:p.Gly353=
ENST00000676312.1:c.1011T>G	ENSP00000502312.1:p.Gly337=
ENST00000223208.9:c.1050T>G	ENSP00000223208.4:p.Gly350=
ENST00000343969.9:c.834T>G	ENSP00000342738.5:p.Gly278=
ENST00000484549.5:c.*596T>G	ENSP00000419078.1:n.*596T>G
ENST00000485736.5:n.733T>G
ENST00000541543.5:c.786T>G	ENSP00000445888.1:p.Gly262=
ENST00000603513.1:n.2247T>G
NM_001257158.1:c.834T>G	NP_001244087.1:p.Gly278=
NM_001257159.1:c.786T>G	NP_001244088.1:p.Gly262=
NM_018718.2:c.1050T>G	NP_061188.1:p.Gly350=
NR_046443.1:n.1218T>G
XM_011516708.1:c.1095T>G	XP_011515010.1:p.Gly365=
XM_011516709.1:c.945T>G	XP_011515011.1:p.Gly315=
XM_011516710.1:c.945T>G	XP_011515012.1:p.Gly315=
XM_011516711.1:c.945T>G	XP_011515013.1:p.Gly315=
XM_011516712.1:c.879T>G	XP_011515014.1:p.Gly293=
XM_011516709.3:c.945T>G	XP_011515011.1:p.Gly315=
XM_011516710.3:c.945T>G	XP_011515012.1:p.Gly315=
XM_024447004.1:c.1011T>G	XP_024302772.1:p.Gly337=
NM_018718.3:c.1050T>G MANE Select	NP_061188.1:p.Gly350=
NM_001257158.2:c.834T>G	NP_001244087.1:p.Gly278=
NR_046443.2:n.1024T>G
NM_001257159.2:c.786T>G	NP_001244088.1:p.Gly262=