Canonical Allele Identifier: CA4485479
Community Standard Title: NM_018718.3(CEP41):c.753C>T (p.Ser251=)
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130400711G>A , CM000669.2:g.130400711G>A GRCh38
NC_000007.13:g.130040552G>A , CM000669.1:g.130040552G>A GRCh37
NC_000007.12:g.129827788G>A NCBI36
NG_032164.1:g.45500C>T
NG_032164.2:g.45500C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.753C>T MANE Select NP_061188.1:p.Ser251=
ENST00000223208.10:c.753C>T MANE Select ENSP00000223208.4:p.Ser251=
NM_001257158.1:c.753C>T NP_001244087.1:p.Ser251=
NM_001257158.2:c.753C>T NP_001244087.1:p.Ser251=
NM_001257159.1:c.705C>T NP_001244088.1:p.Ser235=
NM_001257159.2:c.705C>T NP_001244088.1:p.Ser235=
NM_018718.2:c.753C>T NP_061188.1:p.Ser251=
NR_046443.1:n.921C>T
NR_046443.2:n.727C>T
ENST00000223208.9:c.753C>T ENSP00000223208.4:p.Ser251=
ENST00000343969.10:c.753C>T ENSP00000342738.6:p.Ser251=
ENST00000343969.9:c.753C>T ENSP00000342738.5:p.Ser251=
ENST00000471201.6:c.966C>T ENSP00000417463.2:p.Ser322=
ENST00000472739.6:c.648C>T ENSP00000417593.2:p.Ser216=
ENST00000475282.6:c.648C>T ENSP00000418363.2:p.Ser216=
ENST00000477003.6:c.*355C>T ENSP00000420670.2:n.*355C>T
ENST00000480206.1:n.218C>T
ENST00000480206.2:c.753C>T ENSP00000502099.1:p.Ser251=
ENST00000484549.5:c.*299C>T ENSP00000419078.1:n.*299C>T
ENST00000484549.6:c.*925C>T ENSP00000419078.2:n.*925C>T
ENST00000485736.5:n.436C>T
ENST00000492389.6:c.773C>T ENSP00000419192.2:n.773C>T
ENST00000541543.5:c.705C>T ENSP00000445888.1:p.Ser235=
ENST00000541543.6:c.744C>T ENSP00000445888.2:p.Ser248=
ENST00000603513.1:n.499C>T
ENST00000674539.1:c.423-1672C>T ENSP00000502834.1:n.423-1672C>T
ENST00000674630.1:c.*299C>T ENSP00000502521.1:n.*299C>T
ENST00000675138.1:c.798C>T ENSP00000501597.1:p.Ser266=
ENST00000675168.1:c.705C>T ENSP00000501563.1:p.Ser235=
ENST00000675328.1:n.563C>T
ENST00000675542.1:n.718C>T
ENST00000675563.1:c.144C>T ENSP00000502483.1:p.Ser48=
ENST00000675596.1:c.753C>T ENSP00000501735.1:p.Ser251=
ENST00000675649.1:c.575-457C>T ENSP00000502385.1:n.575-457C>T
ENST00000675721.1:c.*696C>T ENSP00000502026.1:n.*696C>T
ENST00000675803.1:c.714C>T ENSP00000502477.1:p.Ser238=
ENST00000675813.1:c.*657C>T ENSP00000502785.1:n.*657C>T
ENST00000675935.1:c.744C>T ENSP00000501731.1:p.Ser248=
ENST00000675962.1:c.705C>T ENSP00000502478.1:p.Ser235=
ENST00000676115.1:c.*674C>T ENSP00000502631.1:n.*674C>T
ENST00000676243.1:c.753C>T ENSP00000501717.1:p.Ser251=
ENST00000676312.1:c.714C>T ENSP00000502312.1:p.Ser238=
XM_011516708.1:c.798C>T XP_011515010.1:p.Ser266=
XM_011516709.1:c.648C>T XP_011515011.1:p.Ser216=
XM_011516709.3:c.648C>T XP_011515011.1:p.Ser216=
XM_011516710.1:c.648C>T XP_011515012.1:p.Ser216=
XM_011516710.3:c.648C>T XP_011515012.1:p.Ser216=
XM_011516711.1:c.648C>T XP_011515013.1:p.Ser216=
XM_011516712.1:c.798C>T XP_011515014.1:p.Ser266=
XM_024447004.1:c.714C>T XP_024302772.1:p.Ser238=