Canonical Allele Identifier: CA382420293

Gene: CEP57

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95812994C>G , CM000673.2:g.95812994C>G	GRCh38
NC_000011.9:g.95546158C>G , CM000673.1:g.95546158C>G	GRCh37
NC_000011.8:g.95185806C>G	NCBI36
NG_029829.1:g.27534C>G , LRG_526:g.27534C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325542.10:c.265C>G MANE Select	ENSP00000317902.5:p.Gln89Glu
ENST00000325486.9:c.265C>G	ENSP00000317487.5:p.Gln89Glu
ENST00000325542.9:c.265C>G	ENSP00000317902.5:p.Gln89Glu
ENST00000535497.1:c.108C>G	ENSP00000442481.1:p.Phe36Leu
ENST00000536587.5:n.65C>G
ENST00000537677.5:c.184C>G	ENSP00000441392.1:p.Gln62Glu
ENST00000538658.5:c.265C>G	ENSP00000445706.1:p.Gln89Glu
ENST00000539855.5:c.*44C>G	ENSP00000437422.1:n.*44C>G
ENST00000540830.5:c.*29C>G	ENSP00000440996.1:n.*29C>G
ENST00000541150.5:c.238C>G	ENSP00000443436.1:p.Gln80Glu
ENST00000541365.5:c.184C>G	ENSP00000445821.1:p.Gln62Glu
ENST00000541768.1:n.18C>G
ENST00000544522.5:c.238C>G	ENSP00000438065.1:p.Gln80Glu
NM_001243776.1:c.238C>G	NP_001230705.1:p.Gln80Glu
NM_001243777.1:c.265C>G	NP_001230706.1:p.Gln89Glu
NM_014679.4:c.265C>G	NP_055494.2:p.Gln89Glu
XM_006718945.2:c.265C>G	XP_006719008.1:p.Gln89Glu
XM_006718946.2:c.265C>G	XP_006719009.1:p.Gln89Glu
NM_001363604.1:c.184C>G	NP_001350533.1:p.Gln62Glu
XM_006718945.3:c.265C>G	XP_006719008.1:p.Gln89Glu
XM_006718946.3:c.265C>G	XP_006719009.1:p.Gln89Glu
XM_017018592.1:c.238C>G	XP_016874081.1:p.Gln80Glu
XM_017018593.2:c.265C>G	XP_016874082.1:p.Gln89Glu
XM_017018594.2:c.265C>G	XP_016874083.1:p.Gln89Glu
XM_024448779.1:c.184C>G	XP_024304547.1:p.Gln62Glu
XR_001748050.2:n.493C>G
NM_014679.5:c.265C>G MANE Select	NP_055494.2:p.Gln89Glu
NM_001243776.2:c.238C>G	NP_001230705.1:p.Gln80Glu
NM_001243777.2:c.265C>G	NP_001230706.1:p.Gln89Glu
NM_001363604.2:c.184C>G	NP_001350533.1:p.Gln62Glu