Canonical Allele Identifier: CA369284635

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130416960C>T , CM000669.2:g.130416960C>T	GRCh38
NC_000007.13:g.130056801C>T , CM000669.1:g.130056801C>T	GRCh37
NC_000007.12:g.129844037C>T	NCBI36
NG_032164.1:g.29251G>A
NG_032164.2:g.29251G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018718.3:c.104G>A MANE Select	NP_061188.1:p.Ser35Asn
ENST00000223208.10:c.104G>A MANE Select	ENSP00000223208.4:p.Ser35Asn
NM_001257158.1:c.104G>A	NP_001244087.1:p.Ser35Asn
NM_001257158.2:c.104G>A	NP_001244087.1:p.Ser35Asn
NM_001257159.1:c.98-4720G>A	NP_001244088.1:n.98-4720G>A
NM_001257159.2:c.98-4720G>A	NP_001244088.1:n.98-4720G>A
NM_018718.2:c.104G>A	NP_061188.1:p.Ser35Asn
NR_046443.1:n.348G>A
NR_046443.2:n.154G>A
ENST00000223208.9:c.104G>A	ENSP00000223208.4:p.Ser35Asn
ENST00000343969.10:c.104G>A	ENSP00000342738.6:p.Ser35Asn
ENST00000343969.9:c.104G>A	ENSP00000342738.5:p.Ser35Asn
ENST00000469826.1:c.65G>A	ENSP00000418712.1:p.Ser22Asn
ENST00000471201.5:c.*8G>A	ENSP00000417463.1:n.*8G>A
ENST00000471201.6:c.203G>A	ENSP00000417463.2:p.Ser68Asn
ENST00000472739.5:c.-2G>A	ENSP00000417593.1:n.-2G>A
ENST00000472739.6:c.-2G>A	ENSP00000417593.2:n.-2G>A
ENST00000475282.5:c.-2G>A	ENSP00000418363.1:n.-2G>A
ENST00000475282.6:c.-2G>A	ENSP00000418363.2:n.-2G>A
ENST00000477003.5:c.95G>A	ENSP00000420670.1:p.Ser32Asn
ENST00000477003.6:c.104G>A	ENSP00000420670.2:p.Ser35Asn
ENST00000480206.2:c.104G>A	ENSP00000502099.1:p.Ser35Asn
ENST00000482730.1:n.75G>A
ENST00000484549.5:c.104G>A	ENSP00000419078.1:p.Ser35Asn
ENST00000484549.6:c.*276G>A	ENSP00000419078.2:n.*276G>A
ENST00000492389.5:c.-2G>A	ENSP00000419192.1:n.-2G>A
ENST00000492389.6:c.124G>A	ENSP00000419192.2:n.124G>A
ENST00000498527.5:n.164G>A
ENST00000541543.5:c.98-4720G>A	ENSP00000445888.1:n.98-4720G>A
ENST00000541543.6:c.95G>A	ENSP00000445888.2:p.Ser32Asn
ENST00000674539.1:c.104G>A	ENSP00000502834.1:p.Ser35Asn
ENST00000674630.1:c.104G>A	ENSP00000502521.1:p.Ser35Asn
ENST00000675138.1:c.149G>A	ENSP00000501597.1:p.Ser50Asn
ENST00000675168.1:c.98-4720G>A	ENSP00000501563.1:n.98-4720G>A
ENST00000675494.1:n.413G>A
ENST00000675563.1:c.-506G>A	ENSP00000502483.1:n.-506G>A
ENST00000675596.1:c.104G>A	ENSP00000501735.1:p.Ser35Asn
ENST00000675649.1:c.104G>A	ENSP00000502385.1:p.Ser35Asn
ENST00000675721.1:c.*47G>A	ENSP00000502026.1:n.*47G>A
ENST00000675803.1:c.65G>A	ENSP00000502477.1:p.Ser22Asn
ENST00000675813.1:c.*8G>A	ENSP00000502785.1:n.*8G>A
ENST00000675935.1:c.104G>A	ENSP00000501731.1:p.Ser35Asn
ENST00000675962.1:c.98-4720G>A	ENSP00000502478.1:n.98-4720G>A
ENST00000676115.1:c.*25G>A	ENSP00000502631.1:n.*25G>A
ENST00000676243.1:c.104G>A	ENSP00000501717.1:p.Ser35Asn
ENST00000676312.1:c.65G>A	ENSP00000502312.1:p.Ser22Asn
XM_011516708.1:c.149G>A	XP_011515010.1:p.Ser50Asn
XM_011516709.1:c.-2G>A	XP_011515011.1:n.-2G>A
XM_011516709.3:c.-2G>A	XP_011515011.1:n.-2G>A
XM_011516710.1:c.-2G>A	XP_011515012.1:n.-2G>A
XM_011516710.3:c.-2G>A	XP_011515012.1:n.-2G>A
XM_011516711.1:c.-2G>A	XP_011515013.1:n.-2G>A
XM_011516712.1:c.149G>A	XP_011515014.1:p.Ser50Asn
XM_024447004.1:c.65G>A	XP_024302772.1:p.Ser22Asn