Canonical Allele Identifier: CA382422682

Gene: CEP57

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95817805C>T , CM000673.2:g.95817805C>T	GRCh38
NC_000011.9:g.95550969C>T , CM000673.1:g.95550969C>T	GRCh37
NC_000011.8:g.95190617C>T	NCBI36
NG_029829.1:g.32345C>T , LRG_526:g.32345C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014679.5:c.523C>T MANE Select	NP_055494.2:p.Arg175Ter
ENST00000325542.10:c.523C>T MANE Select	ENSP00000317902.5:p.Arg175Ter
NM_001243776.1:c.496C>T	NP_001230705.1:p.Arg166Ter
NM_001243776.2:c.496C>T	NP_001230705.1:p.Arg166Ter
NM_001243777.1:c.523C>T	NP_001230706.1:p.Arg175Ter
NM_001243777.2:c.523C>T	NP_001230706.1:p.Arg175Ter
NM_001363604.1:c.442C>T	NP_001350533.1:p.Arg148Ter
NM_001363604.2:c.442C>T	NP_001350533.1:p.Arg148Ter
NM_014679.4:c.523C>T	NP_055494.2:p.Arg175Ter
ENST00000325486.9:c.523C>T	ENSP00000317487.5:p.Arg175Ter
ENST00000325542.9:c.523C>T	ENSP00000317902.5:p.Arg175Ter
ENST00000537677.5:c.442C>T	ENSP00000441392.1:p.Arg148Ter
ENST00000538658.5:c.523C>T	ENSP00000445706.1:p.Arg175Ter
ENST00000539855.5:c.*302C>T	ENSP00000437422.1:n.*302C>T
ENST00000540830.5:c.*287C>T	ENSP00000440996.1:n.*287C>T
ENST00000541150.5:c.496C>T	ENSP00000443436.1:p.Arg166Ter
ENST00000541365.5:c.442C>T	ENSP00000445821.1:p.Arg148Ter
ENST00000541768.1:n.276C>T
ENST00000544522.5:c.496C>T	ENSP00000438065.1:p.Arg166Ter
XM_006718945.2:c.505-1022C>T	XP_006719008.1:n.505-1022C>T
XM_006718945.3:c.505-1022C>T	XP_006719008.1:n.505-1022C>T
XM_006718946.2:c.523C>T	XP_006719009.1:p.Arg175Ter
XM_006718946.3:c.523C>T	XP_006719009.1:p.Arg175Ter
XM_017018592.1:c.496C>T	XP_016874081.1:p.Arg166Ter
XM_017018593.2:c.505-1022C>T	XP_016874082.1:n.505-1022C>T
XM_017018594.2:c.505-1022C>T	XP_016874083.1:n.505-1022C>T
XM_024448779.1:c.424-1022C>T	XP_024304547.1:n.424-1022C>T
XR_001748050.2:n.751C>T