Canonical Allele Identifier: CA369287167

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130427969G>T , CM000669.2:g.130427969G>T	GRCh38
NC_000007.13:g.130067810G>T , CM000669.1:g.130067810G>T	GRCh37
NC_000007.12:g.129855046G>T	NCBI36
NG_032164.1:g.18242C>A
NG_032164.2:g.18242C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018718.3:c.83C>A MANE Select	NP_061188.1:p.Ser28Ter
ENST00000223208.10:c.83C>A MANE Select	ENSP00000223208.4:p.Ser28Ter
NM_001257158.1:c.83C>A	NP_001244087.1:p.Ser28Ter
NM_001257158.2:c.83C>A	NP_001244087.1:p.Ser28Ter
NM_001257159.1:c.83C>A	NP_001244088.1:p.Ser28Ter
NM_001257159.2:c.83C>A	NP_001244088.1:p.Ser28Ter
NM_001257160.1:c.83C>A	NP_001244089.1:p.Ser28Ter
NM_001257160.2:c.83C>A	NP_001244089.1:p.Ser28Ter
NM_018718.2:c.83C>A	NP_061188.1:p.Ser28Ter
NR_046443.1:n.327C>A
NR_046443.2:n.133C>A
ENST00000223208.9:c.83C>A	ENSP00000223208.4:p.Ser28Ter
ENST00000334451.6:n.141C>A
ENST00000343969.10:c.83C>A	ENSP00000342738.6:p.Ser28Ter
ENST00000343969.9:c.83C>A	ENSP00000342738.5:p.Ser28Ter
ENST00000469826.1:c.44C>A	ENSP00000418712.1:p.Ser15Ter
ENST00000471201.5:c.83C>A	ENSP00000417463.1:p.Ser28Ter
ENST00000471201.6:c.182C>A	ENSP00000417463.2:p.Ser61Ter
ENST00000477003.5:c.74C>A	ENSP00000420670.1:p.Ser25Ter
ENST00000477003.6:c.83C>A	ENSP00000420670.2:p.Ser28Ter
ENST00000480206.2:c.83C>A	ENSP00000502099.1:p.Ser28Ter
ENST00000484549.5:c.83C>A	ENSP00000419078.1:p.Ser28Ter
ENST00000484549.6:c.*255C>A	ENSP00000419078.2:n.*255C>A
ENST00000489512.5:c.83C>A	ENSP00000417815.1:p.Ser28Ter
ENST00000495702.5:n.146C>A
ENST00000498527.5:n.143C>A
ENST00000541543.5:c.83C>A	ENSP00000445888.1:p.Ser28Ter
ENST00000541543.6:c.74C>A	ENSP00000445888.2:p.Ser25Ter
ENST00000616628.1:c.83C>A	ENSP00000479252.1:p.Ser28Ter
ENST00000674539.1:c.83C>A	ENSP00000502834.1:p.Ser28Ter
ENST00000674630.1:c.83C>A	ENSP00000502521.1:p.Ser28Ter
ENST00000675138.1:c.128C>A	ENSP00000501597.1:p.Ser43Ter
ENST00000675168.1:c.83C>A	ENSP00000501563.1:p.Ser28Ter
ENST00000675563.1:c.-512-11003C>A	ENSP00000502483.1:n.-512-11003C>A
ENST00000675596.1:c.83C>A	ENSP00000501735.1:p.Ser28Ter
ENST00000675649.1:c.83C>A	ENSP00000502385.1:p.Ser28Ter
ENST00000675721.1:c.83C>A	ENSP00000502026.1:p.Ser28Ter
ENST00000675803.1:c.44C>A	ENSP00000502477.1:p.Ser15Ter
ENST00000675813.1:c.83C>A	ENSP00000502785.1:p.Ser28Ter
ENST00000675935.1:c.83C>A	ENSP00000501731.1:p.Ser28Ter
ENST00000675962.1:c.83C>A	ENSP00000502478.1:p.Ser28Ter
ENST00000676115.1:c.83C>A	ENSP00000502631.1:p.Ser28Ter
ENST00000676243.1:c.83C>A	ENSP00000501717.1:p.Ser28Ter
ENST00000676312.1:c.44C>A	ENSP00000502312.1:p.Ser15Ter
XM_011516708.1:c.128C>A	XP_011515010.1:p.Ser43Ter
XM_011516709.1:c.-137C>A	XP_011515011.1:n.-137C>A
XM_011516709.3:c.-137C>A	XP_011515011.1:n.-137C>A
XM_011516712.1:c.128C>A	XP_011515014.1:p.Ser43Ter
XM_024447004.1:c.44C>A	XP_024302772.1:p.Ser15Ter