Canonical Allele Identifier: CA4485644
Community Standard Title: NM_018718.3(CEP41):c.205C>T (p.Leu69=)
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130412181G>A , CM000669.2:g.130412181G>A GRCh38
NC_000007.13:g.130052022G>A , CM000669.1:g.130052022G>A GRCh37
NC_000007.12:g.129839258G>A NCBI36
NG_032164.1:g.34030C>T
NG_032164.2:g.34030C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.205C>T MANE Select NP_061188.1:p.Leu69=
ENST00000223208.10:c.205C>T MANE Select ENSP00000223208.4:p.Leu69=
NM_001257158.1:c.205C>T NP_001244087.1:p.Leu69=
NM_001257158.2:c.205C>T NP_001244087.1:p.Leu69=
NM_001257159.1:c.157C>T NP_001244088.1:p.Leu53=
NM_001257159.2:c.157C>T NP_001244088.1:p.Leu53=
NM_018718.2:c.205C>T NP_061188.1:p.Leu69=
NR_046443.1:n.449C>T
NR_046443.2:n.255C>T
ENST00000223208.9:c.205C>T ENSP00000223208.4:p.Leu69=
ENST00000343969.10:c.205C>T ENSP00000342738.6:p.Leu69=
ENST00000343969.9:c.205C>T ENSP00000342738.5:p.Leu69=
ENST00000469826.1:c.166C>T ENSP00000418712.1:p.Leu56=
ENST00000471201.5:c.*109C>T ENSP00000417463.1:n.*109C>T
ENST00000471201.6:c.418C>T ENSP00000417463.2:p.Leu140=
ENST00000472739.5:c.100C>T ENSP00000417593.1:p.Leu34=
ENST00000472739.6:c.100C>T ENSP00000417593.2:p.Leu34=
ENST00000475282.5:c.100C>T ENSP00000418363.1:p.Leu34=
ENST00000475282.6:c.100C>T ENSP00000418363.2:p.Leu34=
ENST00000477003.5:c.196C>T ENSP00000420670.1:p.Leu66=
ENST00000477003.6:c.205C>T ENSP00000420670.2:p.Leu69=
ENST00000480206.2:c.205C>T ENSP00000502099.1:p.Leu69=
ENST00000482730.1:n.176C>T
ENST00000484549.5:c.205C>T ENSP00000419078.1:p.Leu69=
ENST00000484549.6:c.*377C>T ENSP00000419078.2:n.*377C>T
ENST00000492389.5:c.100C>T ENSP00000419192.1:p.Leu34=
ENST00000492389.6:c.225C>T ENSP00000419192.2:n.225C>T
ENST00000498527.5:n.265C>T
ENST00000541543.5:c.157C>T ENSP00000445888.1:p.Leu53=
ENST00000541543.6:c.196C>T ENSP00000445888.2:p.Leu66=
ENST00000674539.1:c.205C>T ENSP00000502834.1:p.Leu69=
ENST00000674630.1:c.205C>T ENSP00000502521.1:p.Leu69=
ENST00000675138.1:c.250C>T ENSP00000501597.1:p.Leu84=
ENST00000675168.1:c.157C>T ENSP00000501563.1:p.Leu53=
ENST00000675494.1:n.514C>T
ENST00000675542.1:n.170C>T
ENST00000675563.1:c.-405C>T ENSP00000502483.1:n.-405C>T
ENST00000675596.1:c.205C>T ENSP00000501735.1:p.Leu69=
ENST00000675626.1:n.188C>T
ENST00000675649.1:c.205C>T ENSP00000502385.1:p.Leu69=
ENST00000675721.1:c.*148C>T ENSP00000502026.1:n.*148C>T
ENST00000675803.1:c.166C>T ENSP00000502477.1:p.Leu56=
ENST00000675813.1:c.*109C>T ENSP00000502785.1:n.*109C>T
ENST00000675935.1:c.205C>T ENSP00000501731.1:p.Leu69=
ENST00000675962.1:c.157C>T ENSP00000502478.1:p.Leu53=
ENST00000676115.1:c.*126C>T ENSP00000502631.1:n.*126C>T
ENST00000676243.1:c.205C>T ENSP00000501717.1:p.Leu69=
ENST00000676312.1:c.166C>T ENSP00000502312.1:p.Leu56=
XM_011516708.1:c.250C>T XP_011515010.1:p.Leu84=
XM_011516709.1:c.100C>T XP_011515011.1:p.Leu34=
XM_011516709.3:c.100C>T XP_011515011.1:p.Leu34=
XM_011516710.1:c.100C>T XP_011515012.1:p.Leu34=
XM_011516710.3:c.100C>T XP_011515012.1:p.Leu34=
XM_011516711.1:c.100C>T XP_011515013.1:p.Leu34=
XM_011516712.1:c.250C>T XP_011515014.1:p.Leu84=
XM_024447004.1:c.166C>T XP_024302772.1:p.Leu56=