Canonical Allele Identifier: CA10582954

Gene: CEP57

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95790702G>A , CM000673.2:g.95790702G>A	GRCh38
NC_000011.9:g.95523866G>A , CM000673.1:g.95523866G>A	GRCh37
NC_000011.8:g.95163514G>A	NCBI36
NG_029829.1:g.5242G>A , LRG_526:g.5242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325542.10:c.4G>A MANE Select	ENSP00000317902.5:p.Ala2Thr
ENST00000325486.9:c.4G>A	ENSP00000317487.5:p.Ala2Thr
ENST00000325542.9:c.4G>A	ENSP00000317902.5:p.Ala2Thr
ENST00000535497.1:c.4G>A	ENSP00000442481.1:p.Ala2Thr
ENST00000537677.5:c.-37+560G>A	ENSP00000441392.1:n.-37+560G>A
ENST00000538095.1:c.4G>A	ENSP00000443866.1:p.Ala2Thr
ENST00000538658.5:c.4G>A	ENSP00000445706.1:p.Ala2Thr
ENST00000539855.5:c.4G>A	ENSP00000437422.1:p.Ala2Thr
ENST00000540830.5:c.4G>A	ENSP00000440996.1:p.Ala2Thr
ENST00000541365.5:c.-73G>A	ENSP00000445821.1:n.-73G>A
ENST00000544522.5:c.-68G>A	ENSP00000438065.1:n.-68G>A
NM_001243776.1:c.-68G>A	NP_001230705.1:n.-68G>A
NM_001243777.1:c.4G>A	NP_001230706.1:p.Ala2Thr
NM_014679.4:c.4G>A	NP_055494.2:p.Ala2Thr
XM_006718945.2:c.4G>A	XP_006719008.1:p.Ala2Thr
XM_006718946.2:c.4G>A	XP_006719009.1:p.Ala2Thr
NM_001363604.1:c.-391G>A	NP_001350533.1:n.-391G>A
XM_006718945.3:c.4G>A	XP_006719008.1:p.Ala2Thr
XM_006718946.3:c.4G>A	XP_006719009.1:p.Ala2Thr
XM_017018593.2:c.4G>A	XP_016874082.1:p.Ala2Thr
XM_017018594.2:c.4G>A	XP_016874083.1:p.Ala2Thr
XR_001748050.2:n.232G>A
NM_014679.5:c.4G>A MANE Select	NP_055494.2:p.Ala2Thr
NM_001243776.2:c.-68G>A	NP_001230705.1:n.-68G>A
NM_001243777.2:c.4G>A	NP_001230706.1:p.Ala2Thr
NM_001363604.2:c.-391G>A	NP_001350533.1:n.-391G>A