Canonical Allele Identifier: CA4485408

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130398995G>C , CM000669.2:g.130398995G>C	GRCh38
NC_000007.13:g.130038836G>C , CM000669.1:g.130038836G>C	GRCh37
NC_000007.12:g.129826072G>C	NCBI36
NG_032164.1:g.47216C>G
NG_032164.2:g.47216C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018718.3:c.1018C>G MANE Select	NP_061188.1:p.Pro340Ala
ENST00000223208.10:c.1018C>G MANE Select	ENSP00000223208.4:p.Pro340Ala
NM_001257158.1:c.802C>G	NP_001244087.1:p.Pro268Ala
NM_001257158.2:c.802C>G	NP_001244087.1:p.Pro268Ala
NM_001257159.1:c.754C>G	NP_001244088.1:p.Pro252Ala
NM_001257159.2:c.754C>G	NP_001244088.1:p.Pro252Ala
NM_018718.2:c.1018C>G	NP_061188.1:p.Pro340Ala
NR_046443.1:n.1186C>G
NR_046443.2:n.992C>G
ENST00000223208.9:c.1018C>G	ENSP00000223208.4:p.Pro340Ala
ENST00000343969.10:c.811C>G	ENSP00000342738.6:p.Pro271Ala
ENST00000343969.9:c.802C>G	ENSP00000342738.5:p.Pro268Ala
ENST00000480206.2:c.*1530C>G	ENSP00000502099.1:n.*1530C>G
ENST00000484549.5:c.*564C>G	ENSP00000419078.1:n.*564C>G
ENST00000484549.6:c.*1190C>G	ENSP00000419078.2:n.*1190C>G
ENST00000485736.5:n.701C>G
ENST00000492389.6:c.822C>G	ENSP00000419192.2:n.822C>G
ENST00000541543.5:c.754C>G	ENSP00000445888.1:p.Pro252Ala
ENST00000541543.6:c.1009C>G	ENSP00000445888.2:p.Pro337Ala
ENST00000603513.1:n.2215C>G
ENST00000674539.1:c.*26C>G	ENSP00000502834.1:n.*26C>G
ENST00000674630.1:c.*564C>G	ENSP00000502521.1:n.*564C>G
ENST00000675138.1:c.1063C>G	ENSP00000501597.1:p.Pro355Ala
ENST00000675168.1:c.970C>G	ENSP00000501563.1:p.Pro324Ala
ENST00000675328.1:n.828C>G
ENST00000675542.1:n.983C>G
ENST00000675563.1:c.409C>G	ENSP00000502483.1:p.Pro137Ala
ENST00000675596.1:c.802C>G	ENSP00000501735.1:p.Pro268Ala
ENST00000675649.1:c.835C>G	ENSP00000502385.1:p.Pro279Ala
ENST00000675721.1:c.*961C>G	ENSP00000502026.1:n.*961C>G
ENST00000675803.1:c.979C>G	ENSP00000502477.1:p.Pro327Ala
ENST00000675813.1:c.*922C>G	ENSP00000502785.1:n.*922C>G
ENST00000675935.1:c.1009C>G	ENSP00000501731.1:p.Pro337Ala
ENST00000675962.1:c.754C>G	ENSP00000502478.1:p.Pro252Ala
ENST00000676115.1:c.*939C>G	ENSP00000502631.1:n.*939C>G
ENST00000676243.1:c.1027C>G	ENSP00000501717.1:p.Pro343Ala
ENST00000676312.1:c.979C>G	ENSP00000502312.1:p.Pro327Ala
XM_011516708.1:c.1063C>G	XP_011515010.1:p.Pro355Ala
XM_011516709.1:c.913C>G	XP_011515011.1:p.Pro305Ala
XM_011516709.3:c.913C>G	XP_011515011.1:p.Pro305Ala
XM_011516710.1:c.913C>G	XP_011515012.1:p.Pro305Ala
XM_011516710.3:c.913C>G	XP_011515012.1:p.Pro305Ala
XM_011516711.1:c.913C>G	XP_011515013.1:p.Pro305Ala
XM_011516712.1:c.847C>G	XP_011515014.1:p.Pro283Ala
XM_024447004.1:c.979C>G	XP_024302772.1:p.Pro327Ala