Canonical Allele Identifier: CA4485387
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130398938G>A , CM000669.2:g.130398938G>A GRCh38
NC_000007.13:g.130038779G>A , CM000669.1:g.130038779G>A GRCh37
NC_000007.12:g.129826015G>A NCBI36
NG_032164.1:g.47273C>T
NG_032164.2:g.47273C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.1075C>T MANE Select NP_061188.1:p.Pro359Ser
ENST00000223208.10:c.1075C>T MANE Select ENSP00000223208.4:p.Pro359Ser
NM_001257158.1:c.859C>T NP_001244087.1:p.Pro287Ser
NM_001257158.2:c.859C>T NP_001244087.1:p.Pro287Ser
NM_001257159.1:c.811C>T NP_001244088.1:p.Pro271Ser
NM_001257159.2:c.811C>T NP_001244088.1:p.Pro271Ser
NM_018718.2:c.1075C>T NP_061188.1:p.Pro359Ser
NR_046443.1:n.1243C>T
NR_046443.2:n.1049C>T
ENST00000223208.9:c.1075C>T ENSP00000223208.4:p.Pro359Ser
ENST00000343969.10:c.868C>T ENSP00000342738.6:p.Pro290Ser
ENST00000343969.9:c.859C>T ENSP00000342738.5:p.Pro287Ser
ENST00000480206.2:c.*1587C>T ENSP00000502099.1:n.*1587C>T
ENST00000484549.5:c.*621C>T ENSP00000419078.1:n.*621C>T
ENST00000484549.6:c.*1247C>T ENSP00000419078.2:n.*1247C>T
ENST00000485736.5:n.758C>T
ENST00000492389.6:c.879C>T ENSP00000419192.2:n.879C>T
ENST00000541543.5:c.811C>T ENSP00000445888.1:p.Pro271Ser
ENST00000541543.6:c.1066C>T ENSP00000445888.2:p.Pro356Ser
ENST00000603513.1:n.2272C>T
ENST00000674539.1:c.*83C>T ENSP00000502834.1:n.*83C>T
ENST00000674630.1:c.*621C>T ENSP00000502521.1:n.*621C>T
ENST00000675138.1:c.1120C>T ENSP00000501597.1:p.Pro374Ser
ENST00000675168.1:c.1027C>T ENSP00000501563.1:p.Pro343Ser
ENST00000675328.1:n.885C>T
ENST00000675542.1:n.1040C>T
ENST00000675563.1:c.466C>T ENSP00000502483.1:p.Pro156Ser
ENST00000675596.1:c.859C>T ENSP00000501735.1:p.Pro287Ser
ENST00000675649.1:c.892C>T ENSP00000502385.1:p.Pro298Ser
ENST00000675721.1:c.*1018C>T ENSP00000502026.1:n.*1018C>T
ENST00000675803.1:c.1036C>T ENSP00000502477.1:p.Pro346Ser
ENST00000675813.1:c.*979C>T ENSP00000502785.1:n.*979C>T
ENST00000675935.1:c.1066C>T ENSP00000501731.1:p.Pro356Ser
ENST00000675962.1:c.811C>T ENSP00000502478.1:p.Pro271Ser
ENST00000676115.1:c.*996C>T ENSP00000502631.1:n.*996C>T
ENST00000676243.1:c.1084C>T ENSP00000501717.1:p.Pro362Ser
ENST00000676312.1:c.1036C>T ENSP00000502312.1:p.Pro346Ser
XM_011516708.1:c.1120C>T XP_011515010.1:p.Pro374Ser
XM_011516709.1:c.970C>T XP_011515011.1:p.Pro324Ser
XM_011516709.3:c.970C>T XP_011515011.1:p.Pro324Ser
XM_011516710.1:c.970C>T XP_011515012.1:p.Pro324Ser
XM_011516710.3:c.970C>T XP_011515012.1:p.Pro324Ser
XM_011516711.1:c.970C>T XP_011515013.1:p.Pro324Ser
XM_011516712.1:c.904C>T XP_011515014.1:p.Pro302Ser
XM_024447004.1:c.1036C>T XP_024302772.1:p.Pro346Ser