Canonical Allele Identifier: CA1743237226

Gene: CEP41

Linked Data

• dbSNP Id: rs941330214

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130395293T>G , CM000669.2:g.130395293T>G	GRCh38
NC_000007.13:g.130035134T>G , CM000669.1:g.130035134T>G	GRCh37
NC_000007.12:g.129822370T>G	NCBI36
NG_032164.1:g.50918A>C
NG_032164.2:g.50918A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000223208.10:c.*3598A>C MANE Select	ENSP00000223208.4:n.*3598A>C
ENST00000541543.6:c.*3598A>C	ENSP00000445888.2:n.*3598A>C
ENST00000675649.1:c.*3598A>C	ENSP00000502385.1:n.*3598A>C
ENST00000223208.9:c.*3598A>C	ENSP00000223208.4:n.*3598A>C
ENST00000541543.5:c.*3598A>C	ENSP00000445888.1:n.*3598A>C
NM_001257158.1:c.*3598A>C	NP_001244087.1:n.*3598A>C
NM_001257159.1:c.*3598A>C	NP_001244088.1:n.*3598A>C
NM_018718.2:c.*3598A>C	NP_061188.1:n.*3598A>C
NR_046443.1:n.4888A>C
NM_018718.3:c.*3598A>C MANE Select	NP_061188.1:n.*3598A>C
NM_001257158.2:c.*3598A>C	NP_001244087.1:n.*3598A>C
NR_046443.2:n.4694A>C
NM_001257159.2:c.*3598A>C	NP_001244088.1:n.*3598A>C