Canonical Allele Identifier: CA382420487

Gene: CEP57

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95813026A>C , CM000673.2:g.95813026A>C	GRCh38
NC_000011.9:g.95546190A>C , CM000673.1:g.95546190A>C	GRCh37
NC_000011.8:g.95185838A>C	NCBI36
NG_029829.1:g.27566A>C , LRG_526:g.27566A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014679.5:c.297A>C MANE Select	NP_055494.2:p.Arg99Ser
ENST00000325542.10:c.297A>C MANE Select	ENSP00000317902.5:p.Arg99Ser
NM_001243776.1:c.270A>C	NP_001230705.1:p.Arg90Ser
NM_001243776.2:c.270A>C	NP_001230705.1:p.Arg90Ser
NM_001243777.1:c.297A>C	NP_001230706.1:p.Arg99Ser
NM_001243777.2:c.297A>C	NP_001230706.1:p.Arg99Ser
NM_001363604.1:c.216A>C	NP_001350533.1:p.Arg72Ser
NM_001363604.2:c.216A>C	NP_001350533.1:p.Arg72Ser
NM_014679.4:c.297A>C	NP_055494.2:p.Arg99Ser
ENST00000325486.9:c.297A>C	ENSP00000317487.5:p.Arg99Ser
ENST00000325542.9:c.297A>C	ENSP00000317902.5:p.Arg99Ser
ENST00000535497.1:c.*14A>C	ENSP00000442481.1:n.*14A>C
ENST00000536587.5:n.97A>C
ENST00000537677.5:c.216A>C	ENSP00000441392.1:p.Arg72Ser
ENST00000538658.5:c.297A>C	ENSP00000445706.1:p.Arg99Ser
ENST00000539855.5:c.*76A>C	ENSP00000437422.1:n.*76A>C
ENST00000540830.5:c.*61A>C	ENSP00000440996.1:n.*61A>C
ENST00000541150.5:c.270A>C	ENSP00000443436.1:p.Arg90Ser
ENST00000541365.5:c.216A>C	ENSP00000445821.1:p.Arg72Ser
ENST00000541768.1:n.50A>C
ENST00000544522.5:c.270A>C	ENSP00000438065.1:p.Arg90Ser
XM_006718945.2:c.297A>C	XP_006719008.1:p.Arg99Ser
XM_006718945.3:c.297A>C	XP_006719008.1:p.Arg99Ser
XM_006718946.2:c.297A>C	XP_006719009.1:p.Arg99Ser
XM_006718946.3:c.297A>C	XP_006719009.1:p.Arg99Ser
XM_017018592.1:c.270A>C	XP_016874081.1:p.Arg90Ser
XM_017018593.2:c.297A>C	XP_016874082.1:p.Arg99Ser
XM_017018594.2:c.297A>C	XP_016874083.1:p.Arg99Ser
XM_024448779.1:c.216A>C	XP_024304547.1:p.Arg72Ser
XR_001748050.2:n.525A>C