Canonical Allele Identifier: CA4485806

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130441209C>T , CM000669.2:g.130441209C>T	GRCh38
NC_000007.13:g.130081050C>T , CM000669.1:g.130081050C>T	GRCh37
NC_000007.12:g.129868286C>T	NCBI36
NG_032164.1:g.5002G>A
NG_032164.2:g.5002G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001257158.1:c.-243G>A	NP_001244087.1:n.-243G>A
NM_001257159.1:c.-243G>A	NP_001244088.1:n.-243G>A
NM_001257160.1:c.-243G>A	NP_001244089.1:n.-243G>A
NM_018718.2:c.-243G>A	NP_061188.1:n.-243G>A
NR_046443.1:n.2G>A
ENST00000223208.9:c.-243G>A	ENSP00000223208.4:n.-243G>A
ENST00000477003.5:c.24+1188G>A	ENSP00000420670.1:n.24+1188G>A
ENST00000541543.5:c.-243G>A	ENSP00000445888.1:n.-243G>A
ENST00000541543.6:c.24+1188G>A	ENSP00000445888.2:n.24+1188G>A
ENST00000616628.1:c.-243G>A	ENSP00000479252.1:n.-243G>A
ENST00000675138.1:c.78+449G>A	ENSP00000501597.1:n.78+449G>A
ENST00000675596.1:c.-243G>A	ENSP00000501735.1:n.-243G>A
ENST00000676312.1:c.-183G>A	ENSP00000502312.1:n.-183G>A
XM_011516708.1:c.78+449G>A	XP_011515010.1:n.78+449G>A
XM_011516712.1:c.78+449G>A	XP_011515014.1:n.78+449G>A