Canonical Allele Identifier: CA4485751

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130440947A>G , CM000669.2:g.130440947A>G	GRCh38
NC_000007.13:g.130080788A>G , CM000669.1:g.130080788A>G	GRCh37
NC_000007.12:g.129868024A>G	NCBI36
NG_032164.1:g.5264T>C
NG_032164.2:g.5264T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018718.3:c.20T>C MANE Select	NP_061188.1:p.Ile7Thr
ENST00000223208.10:c.20T>C MANE Select	ENSP00000223208.4:p.Ile7Thr
NM_001257158.1:c.20T>C	NP_001244087.1:p.Ile7Thr
NM_001257158.2:c.20T>C	NP_001244087.1:p.Ile7Thr
NM_001257159.1:c.20T>C	NP_001244088.1:p.Ile7Thr
NM_001257159.2:c.20T>C	NP_001244088.1:p.Ile7Thr
NM_001257160.1:c.20T>C	NP_001244089.1:p.Ile7Thr
NM_001257160.2:c.20T>C	NP_001244089.1:p.Ile7Thr
NM_018718.2:c.20T>C	NP_061188.1:p.Ile7Thr
NR_046443.1:n.264T>C
NR_046443.2:n.70T>C
ENST00000223208.9:c.20T>C	ENSP00000223208.4:p.Ile7Thr
ENST00000334451.6:n.78T>C
ENST00000343969.10:c.20T>C	ENSP00000342738.6:p.Ile7Thr
ENST00000343969.9:c.20T>C	ENSP00000342738.5:p.Ile7Thr
ENST00000469826.2:c.20T>C	ENSP00000418712.2:p.Ile7Thr
ENST00000471201.5:c.20T>C	ENSP00000417463.1:p.Ile7Thr
ENST00000471201.6:c.-55T>C	ENSP00000417463.2:n.-55T>C
ENST00000477003.5:c.24+1450T>C	ENSP00000420670.1:n.24+1450T>C
ENST00000477003.6:c.20T>C	ENSP00000420670.2:p.Ile7Thr
ENST00000480206.2:c.20T>C	ENSP00000502099.1:p.Ile7Thr
ENST00000484549.5:c.20T>C	ENSP00000419078.1:p.Ile7Thr
ENST00000484549.6:c.20T>C	ENSP00000419078.2:p.Ile7Thr
ENST00000489512.5:c.20T>C	ENSP00000417815.1:p.Ile7Thr
ENST00000495702.5:n.83T>C
ENST00000498527.5:n.80T>C
ENST00000541543.5:c.20T>C	ENSP00000445888.1:p.Ile7Thr
ENST00000541543.6:c.24+1450T>C	ENSP00000445888.2:n.24+1450T>C
ENST00000616628.1:c.20T>C	ENSP00000479252.1:p.Ile7Thr
ENST00000674539.1:c.20T>C	ENSP00000502834.1:p.Ile7Thr
ENST00000674630.1:c.20T>C	ENSP00000502521.1:p.Ile7Thr
ENST00000675138.1:c.78+711T>C	ENSP00000501597.1:n.78+711T>C
ENST00000675168.1:c.20T>C	ENSP00000501563.1:p.Ile7Thr
ENST00000675563.1:c.-526T>C	ENSP00000502483.1:n.-526T>C
ENST00000675596.1:c.20T>C	ENSP00000501735.1:p.Ile7Thr
ENST00000675649.1:c.20T>C	ENSP00000502385.1:p.Ile7Thr
ENST00000675721.1:c.20T>C	ENSP00000502026.1:p.Ile7Thr
ENST00000675813.1:c.20T>C	ENSP00000502785.1:p.Ile7Thr
ENST00000675935.1:c.20T>C	ENSP00000501731.1:p.Ile7Thr
ENST00000675962.1:c.20T>C	ENSP00000502478.1:p.Ile7Thr
ENST00000676115.1:c.20T>C	ENSP00000502631.1:p.Ile7Thr
ENST00000676243.1:c.20T>C	ENSP00000501717.1:p.Ile7Thr
ENST00000676312.1:c.-7+86T>C	ENSP00000502312.1:n.-7+86T>C
XM_011516708.1:c.78+711T>C	XP_011515010.1:n.78+711T>C
XM_011516709.1:c.-200T>C	XP_011515011.1:n.-200T>C
XM_011516709.3:c.-200T>C	XP_011515011.1:n.-200T>C
XM_011516712.1:c.78+711T>C	XP_011515014.1:n.78+711T>C