Canonical Allele Identifier: CA4485403
Community Standard Title: NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130398980C>A , CM000669.2:g.130398980C>A GRCh38
NC_000007.13:g.130038821C>A , CM000669.1:g.130038821C>A GRCh37
NC_000007.12:g.129826057C>A NCBI36
NG_032164.1:g.47231G>T
NG_032164.2:g.47231G>T

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.1033G>T MANE Select NP_061188.1:p.Ala345Ser
ENST00000223208.10:c.1033G>T MANE Select ENSP00000223208.4:p.Ala345Ser
NM_001257158.1:c.817G>T NP_001244087.1:p.Ala273Ser
NM_001257158.2:c.817G>T NP_001244087.1:p.Ala273Ser
NM_001257159.1:c.769G>T NP_001244088.1:p.Ala257Ser
NM_001257159.2:c.769G>T NP_001244088.1:p.Ala257Ser
NM_018718.2:c.1033G>T NP_061188.1:p.Ala345Ser
NR_046443.1:n.1201G>T
NR_046443.2:n.1007G>T
ENST00000223208.9:c.1033G>T ENSP00000223208.4:p.Ala345Ser
ENST00000343969.10:c.826G>T ENSP00000342738.6:p.Ala276Ser
ENST00000343969.9:c.817G>T ENSP00000342738.5:p.Ala273Ser
ENST00000480206.2:c.*1545G>T ENSP00000502099.1:n.*1545G>T
ENST00000484549.5:c.*579G>T ENSP00000419078.1:n.*579G>T
ENST00000484549.6:c.*1205G>T ENSP00000419078.2:n.*1205G>T
ENST00000485736.5:n.716G>T
ENST00000492389.6:c.837G>T ENSP00000419192.2:n.837G>T
ENST00000541543.5:c.769G>T ENSP00000445888.1:p.Ala257Ser
ENST00000541543.6:c.1024G>T ENSP00000445888.2:p.Ala342Ser
ENST00000603513.1:n.2230G>T
ENST00000674539.1:c.*41G>T ENSP00000502834.1:n.*41G>T
ENST00000674630.1:c.*579G>T ENSP00000502521.1:n.*579G>T
ENST00000675138.1:c.1078G>T ENSP00000501597.1:p.Ala360Ser
ENST00000675168.1:c.985G>T ENSP00000501563.1:p.Ala329Ser
ENST00000675328.1:n.843G>T
ENST00000675542.1:n.998G>T
ENST00000675563.1:c.424G>T ENSP00000502483.1:p.Ala142Ser
ENST00000675596.1:c.817G>T ENSP00000501735.1:p.Ala273Ser
ENST00000675649.1:c.850G>T ENSP00000502385.1:p.Ala284Ser
ENST00000675721.1:c.*976G>T ENSP00000502026.1:n.*976G>T
ENST00000675803.1:c.994G>T ENSP00000502477.1:p.Ala332Ser
ENST00000675813.1:c.*937G>T ENSP00000502785.1:n.*937G>T
ENST00000675935.1:c.1024G>T ENSP00000501731.1:p.Ala342Ser
ENST00000675962.1:c.769G>T ENSP00000502478.1:p.Ala257Ser
ENST00000676115.1:c.*954G>T ENSP00000502631.1:n.*954G>T
ENST00000676243.1:c.1042G>T ENSP00000501717.1:p.Ala348Ser
ENST00000676312.1:c.994G>T ENSP00000502312.1:p.Ala332Ser
XM_011516708.1:c.1078G>T XP_011515010.1:p.Ala360Ser
XM_011516709.1:c.928G>T XP_011515011.1:p.Ala310Ser
XM_011516709.3:c.928G>T XP_011515011.1:p.Ala310Ser
XM_011516710.1:c.928G>T XP_011515012.1:p.Ala310Ser
XM_011516710.3:c.928G>T XP_011515012.1:p.Ala310Ser
XM_011516711.1:c.928G>T XP_011515013.1:p.Ala310Ser
XM_011516712.1:c.862G>T XP_011515014.1:p.Ala288Ser
XM_024447004.1:c.994G>T XP_024302772.1:p.Ala332Ser