Canonical Allele Identifier: CA4485227

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130396917T>C , CM000669.2:g.130396917T>C	GRCh38
NC_000007.13:g.130036758T>C , CM000669.1:g.130036758T>C	GRCh37
NC_000007.12:g.129823994T>C	NCBI36
NG_032164.1:g.49294A>G
NG_032164.2:g.49294A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018718.3:c.*1974A>G MANE Select	NP_061188.1:n.*1974A>G
ENST00000223208.10:c.*1974A>G MANE Select	ENSP00000223208.4:n.*1974A>G
NM_001257158.1:c.*1974A>G	NP_001244087.1:n.*1974A>G
NM_001257158.2:c.*1974A>G	NP_001244087.1:n.*1974A>G
NM_001257159.1:c.*1974A>G	NP_001244088.1:n.*1974A>G
NM_001257159.2:c.*1974A>G	NP_001244088.1:n.*1974A>G
NM_018718.2:c.*1974A>G	NP_061188.1:n.*1974A>G
NR_046443.1:n.3264A>G
NR_046443.2:n.3070A>G
ENST00000223208.9:c.*1974A>G	ENSP00000223208.4:n.*1974A>G
ENST00000541543.5:c.*1974A>G	ENSP00000445888.1:n.*1974A>G
ENST00000541543.6:c.*1974A>G	ENSP00000445888.2:n.*1974A>G
ENST00000675649.1:c.*1974A>G	ENSP00000502385.1:n.*1974A>G
XM_011516708.1:c.*1974A>G	XP_011515010.1:n.*1974A>G
XM_011516709.1:c.*1974A>G	XP_011515011.1:n.*1974A>G
XM_011516709.3:c.*1974A>G	XP_011515011.1:n.*1974A>G
XM_011516710.1:c.*1974A>G	XP_011515012.1:n.*1974A>G
XM_011516710.3:c.*1974A>G	XP_011515012.1:n.*1974A>G
XM_011516711.1:c.*1974A>G	XP_011515013.1:n.*1974A>G
XM_011516712.1:c.*1974A>G	XP_011515014.1:n.*1974A>G
XM_024447004.1:c.*1974A>G	XP_024302772.1:n.*1974A>G