Canonical Allele Identifier: CA382419897

Gene: CEP57

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95812946C>T , CM000673.2:g.95812946C>T	GRCh38
NC_000011.9:g.95546110C>T , CM000673.1:g.95546110C>T	GRCh37
NC_000011.8:g.95185758C>T	NCBI36
NG_029829.1:g.27486C>T , LRG_526:g.27486C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014679.5:c.217C>T MANE Select	NP_055494.2:p.Leu73Phe
ENST00000325542.10:c.217C>T MANE Select	ENSP00000317902.5:p.Leu73Phe
NM_001243776.1:c.190C>T	NP_001230705.1:p.Leu64Phe
NM_001243776.2:c.190C>T	NP_001230705.1:p.Leu64Phe
NM_001243777.1:c.217C>T	NP_001230706.1:p.Leu73Phe
NM_001243777.2:c.217C>T	NP_001230706.1:p.Leu73Phe
NM_001363604.1:c.136C>T	NP_001350533.1:p.Leu46Phe
NM_001363604.2:c.136C>T	NP_001350533.1:p.Leu46Phe
NM_014679.4:c.217C>T	NP_055494.2:p.Leu73Phe
ENST00000325486.9:c.217C>T	ENSP00000317487.5:p.Leu73Phe
ENST00000325542.9:c.217C>T	ENSP00000317902.5:p.Leu73Phe
ENST00000535497.1:c.60C>T	ENSP00000442481.1:p.Leu20=
ENST00000536587.5:n.17C>T
ENST00000537677.5:c.136C>T	ENSP00000441392.1:p.Leu46Phe
ENST00000538095.1:c.*197C>T	ENSP00000443866.1:n.*197C>T
ENST00000538658.5:c.217C>T	ENSP00000445706.1:p.Leu73Phe
ENST00000539855.5:c.245C>T	ENSP00000437422.1:p.Ser82Phe
ENST00000540830.5:c.203-6C>T	ENSP00000440996.1:n.203-6C>T
ENST00000541150.5:c.190C>T	ENSP00000443436.1:p.Leu64Phe
ENST00000541365.5:c.136C>T	ENSP00000445821.1:p.Leu46Phe
ENST00000544522.5:c.190C>T	ENSP00000438065.1:p.Leu64Phe
XM_006718945.2:c.217C>T	XP_006719008.1:p.Leu73Phe
XM_006718945.3:c.217C>T	XP_006719008.1:p.Leu73Phe
XM_006718946.2:c.217C>T	XP_006719009.1:p.Leu73Phe
XM_006718946.3:c.217C>T	XP_006719009.1:p.Leu73Phe
XM_017018592.1:c.190C>T	XP_016874081.1:p.Leu64Phe
XM_017018593.2:c.217C>T	XP_016874082.1:p.Leu73Phe
XM_017018594.2:c.217C>T	XP_016874083.1:p.Leu73Phe
XM_024448779.1:c.136C>T	XP_024304547.1:p.Leu46Phe
XR_001748050.2:n.445C>T