Canonical Allele Identifier: CA457659597
Community Standard Title: NM_018718.3(CEP41):c.225C>T (p.Ser75=)
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130411174G>A , CM000669.2:g.130411174G>A GRCh38
NC_000007.13:g.130051015G>A , CM000669.1:g.130051015G>A GRCh37
NC_000007.12:g.129838251G>A NCBI36
NG_032164.1:g.35037C>T
NG_032164.2:g.35037C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.225C>T MANE Select NP_061188.1:p.Ser75=
ENST00000223208.10:c.225C>T MANE Select ENSP00000223208.4:p.Ser75=
NM_001257158.1:c.225C>T NP_001244087.1:p.Ser75=
NM_001257158.2:c.225C>T NP_001244087.1:p.Ser75=
NM_001257159.1:c.177C>T NP_001244088.1:p.Ser59=
NM_001257159.2:c.177C>T NP_001244088.1:p.Ser59=
NM_018718.2:c.225C>T NP_061188.1:p.Ser75=
NR_046443.1:n.469C>T
NR_046443.2:n.275C>T
ENST00000223208.9:c.225C>T ENSP00000223208.4:p.Ser75=
ENST00000343969.10:c.225C>T ENSP00000342738.6:p.Ser75=
ENST00000343969.9:c.225C>T ENSP00000342738.5:p.Ser75=
ENST00000469826.1:c.186C>T ENSP00000418712.1:p.Ser62=
ENST00000471201.5:c.*129C>T ENSP00000417463.1:n.*129C>T
ENST00000471201.6:c.438C>T ENSP00000417463.2:p.Ser146=
ENST00000472739.5:c.120C>T ENSP00000417593.1:p.Ser40=
ENST00000472739.6:c.120C>T ENSP00000417593.2:p.Ser40=
ENST00000475282.5:c.120C>T ENSP00000418363.1:p.Ser40=
ENST00000475282.6:c.120C>T ENSP00000418363.2:p.Ser40=
ENST00000477003.5:c.216C>T ENSP00000420670.1:p.Ser72=
ENST00000477003.6:c.225C>T ENSP00000420670.2:p.Ser75=
ENST00000480206.2:c.225C>T ENSP00000502099.1:p.Ser75=
ENST00000484549.5:c.225C>T ENSP00000419078.1:p.Ser75=
ENST00000484549.6:c.*397C>T ENSP00000419078.2:n.*397C>T
ENST00000492389.5:c.120C>T ENSP00000419192.1:p.Ser40=
ENST00000492389.6:c.245C>T ENSP00000419192.2:n.245C>T
ENST00000498527.5:n.285C>T
ENST00000541543.5:c.177C>T ENSP00000445888.1:p.Ser59=
ENST00000541543.6:c.216C>T ENSP00000445888.2:p.Ser72=
ENST00000674539.1:c.225C>T ENSP00000502834.1:p.Ser75=
ENST00000674630.1:c.225C>T ENSP00000502521.1:p.Ser75=
ENST00000675138.1:c.270C>T ENSP00000501597.1:p.Ser90=
ENST00000675168.1:c.177C>T ENSP00000501563.1:p.Ser59=
ENST00000675328.1:n.35C>T
ENST00000675494.1:n.534C>T
ENST00000675542.1:n.190C>T
ENST00000675563.1:c.-385C>T ENSP00000502483.1:n.-385C>T
ENST00000675596.1:c.225C>T ENSP00000501735.1:p.Ser75=
ENST00000675626.1:n.208C>T
ENST00000675649.1:c.225C>T ENSP00000502385.1:p.Ser75=
ENST00000675721.1:c.*168C>T ENSP00000502026.1:n.*168C>T
ENST00000675803.1:c.186C>T ENSP00000502477.1:p.Ser62=
ENST00000675813.1:c.*129C>T ENSP00000502785.1:n.*129C>T
ENST00000675935.1:c.225C>T ENSP00000501731.1:p.Ser75=
ENST00000675962.1:c.177C>T ENSP00000502478.1:p.Ser59=
ENST00000676115.1:c.*146C>T ENSP00000502631.1:n.*146C>T
ENST00000676243.1:c.225C>T ENSP00000501717.1:p.Ser75=
ENST00000676312.1:c.186C>T ENSP00000502312.1:p.Ser62=
XM_011516708.1:c.270C>T XP_011515010.1:p.Ser90=
XM_011516709.1:c.120C>T XP_011515011.1:p.Ser40=
XM_011516709.3:c.120C>T XP_011515011.1:p.Ser40=
XM_011516710.1:c.120C>T XP_011515012.1:p.Ser40=
XM_011516710.3:c.120C>T XP_011515012.1:p.Ser40=
XM_011516711.1:c.120C>T XP_011515013.1:p.Ser40=
XM_011516712.1:c.270C>T XP_011515014.1:p.Ser90=
XM_024447004.1:c.186C>T XP_024302772.1:p.Ser62=