Canonical Allele Identifier: CA4485802
Community Standard Title: NC_000007.14:g.130441144G>T
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130441144G>T , CM000669.2:g.130441144G>T GRCh38
NC_000007.13:g.130080985G>T , CM000669.1:g.130080985G>T GRCh37
NC_000007.12:g.129868221G>T NCBI36
NG_032164.1:g.5067C>A
NG_032164.2:g.5067C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001257158.1:c.-178C>A NP_001244087.1:n.-178C>A
NM_001257159.1:c.-178C>A NP_001244088.1:n.-178C>A
NM_001257160.1:c.-178C>A NP_001244089.1:n.-178C>A
NM_018718.2:c.-178C>A NP_061188.1:n.-178C>A
NR_046443.1:n.67C>A
ENST00000223208.9:c.-178C>A ENSP00000223208.4:n.-178C>A
ENST00000477003.5:c.24+1253C>A ENSP00000420670.1:n.24+1253C>A
ENST00000541543.5:c.-178C>A ENSP00000445888.1:n.-178C>A
ENST00000541543.6:c.24+1253C>A ENSP00000445888.2:n.24+1253C>A
ENST00000616628.1:c.-178C>A ENSP00000479252.1:n.-178C>A
ENST00000675138.1:c.78+514C>A ENSP00000501597.1:n.78+514C>A
ENST00000675596.1:c.-178C>A ENSP00000501735.1:n.-178C>A
ENST00000676312.1:c.-118C>A ENSP00000502312.1:n.-118C>A
XM_011516708.1:c.78+514C>A XP_011515010.1:n.78+514C>A
XM_011516712.1:c.78+514C>A XP_011515014.1:n.78+514C>A