Canonical Allele Identifier: CA4485431

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130400028A>G , CM000669.2:g.130400028A>G	GRCh38
NC_000007.13:g.130039869A>G , CM000669.1:g.130039869A>G	GRCh37
NC_000007.12:g.129827105A>G	NCBI36
NG_032164.1:g.46183T>C
NG_032164.2:g.46183T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018718.3:c.973+11T>C MANE Select	NP_061188.1:n.973+11T>C
ENST00000223208.10:c.973+11T>C MANE Select	ENSP00000223208.4:n.973+11T>C
NM_001257158.1:c.757+679T>C	NP_001244087.1:n.757+679T>C
NM_001257158.2:c.757+679T>C	NP_001244087.1:n.757+679T>C
NM_001257159.1:c.709+679T>C	NP_001244088.1:n.709+679T>C
NM_001257159.2:c.709+679T>C	NP_001244088.1:n.709+679T>C
NM_018718.2:c.973+11T>C	NP_061188.1:n.973+11T>C
NR_046443.1:n.1141+11T>C
NR_046443.2:n.947+11T>C
ENST00000223208.9:c.973+11T>C	ENSP00000223208.4:n.973+11T>C
ENST00000343969.10:c.766+670T>C	ENSP00000342738.6:n.766+670T>C
ENST00000343969.9:c.757+679T>C	ENSP00000342738.5:n.757+679T>C
ENST00000480206.2:c.*497T>C	ENSP00000502099.1:n.*497T>C
ENST00000484549.5:c.*519+11T>C	ENSP00000419078.1:n.*519+11T>C
ENST00000484549.6:c.*1145+11T>C	ENSP00000419078.2:n.*1145+11T>C
ENST00000485736.5:n.656+11T>C
ENST00000492389.6:c.777+679T>C	ENSP00000419192.2:n.777+679T>C
ENST00000541543.5:c.709+679T>C	ENSP00000445888.1:n.709+679T>C
ENST00000541543.6:c.964+11T>C	ENSP00000445888.2:n.964+11T>C
ENST00000603513.1:n.1182T>C
ENST00000674539.1:c.423-989T>C	ENSP00000502834.1:n.423-989T>C
ENST00000674630.1:c.*519+11T>C	ENSP00000502521.1:n.*519+11T>C
ENST00000675138.1:c.1018+11T>C	ENSP00000501597.1:n.1018+11T>C
ENST00000675168.1:c.925+11T>C	ENSP00000501563.1:n.925+11T>C
ENST00000675328.1:n.783+11T>C
ENST00000675542.1:n.938+11T>C
ENST00000675563.1:c.364+11T>C	ENSP00000502483.1:n.364+11T>C
ENST00000675596.1:c.757+679T>C	ENSP00000501735.1:n.757+679T>C
ENST00000675649.1:c.790+11T>C	ENSP00000502385.1:n.790+11T>C
ENST00000675721.1:c.*916+11T>C	ENSP00000502026.1:n.*916+11T>C
ENST00000675803.1:c.934+11T>C	ENSP00000502477.1:n.934+11T>C
ENST00000675813.1:c.*877+11T>C	ENSP00000502785.1:n.*877+11T>C
ENST00000675935.1:c.964+11T>C	ENSP00000501731.1:n.964+11T>C
ENST00000675962.1:c.709+679T>C	ENSP00000502478.1:n.709+679T>C
ENST00000676115.1:c.*894+11T>C	ENSP00000502631.1:n.*894+11T>C
ENST00000676243.1:c.982+11T>C	ENSP00000501717.1:n.982+11T>C
ENST00000676312.1:c.934+11T>C	ENSP00000502312.1:n.934+11T>C
XM_011516708.1:c.1018+11T>C	XP_011515010.1:n.1018+11T>C
XM_011516709.1:c.868+11T>C	XP_011515011.1:n.868+11T>C
XM_011516709.3:c.868+11T>C	XP_011515011.1:n.868+11T>C
XM_011516710.1:c.868+11T>C	XP_011515012.1:n.868+11T>C
XM_011516710.3:c.868+11T>C	XP_011515012.1:n.868+11T>C
XM_011516711.1:c.868+11T>C	XP_011515013.1:n.868+11T>C
XM_011516712.1:c.802+679T>C	XP_011515014.1:n.802+679T>C
XM_024447004.1:c.934+11T>C	XP_024302772.1:n.934+11T>C