Canonical Allele Identifier: CA382421295

Gene: CEP57

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95813113T>C , CM000673.2:g.95813113T>C	GRCh38
NC_000011.9:g.95546277T>C , CM000673.1:g.95546277T>C	GRCh37
NC_000011.8:g.95185925T>C	NCBI36
NG_029829.1:g.27653T>C , LRG_526:g.27653T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014679.5:c.382+2T>C MANE Select	NP_055494.2:n.382+2T>C
ENST00000325542.10:c.382+2T>C MANE Select	ENSP00000317902.5:n.382+2T>C
NM_001243776.1:c.355+2T>C	NP_001230705.1:n.355+2T>C
NM_001243776.2:c.355+2T>C	NP_001230705.1:n.355+2T>C
NM_001243777.1:c.382+2T>C	NP_001230706.1:n.382+2T>C
NM_001243777.2:c.382+2T>C	NP_001230706.1:n.382+2T>C
NM_001363604.1:c.301+2T>C	NP_001350533.1:n.301+2T>C
NM_001363604.2:c.301+2T>C	NP_001350533.1:n.301+2T>C
NM_014679.4:c.382+2T>C	NP_055494.2:n.382+2T>C
ENST00000325486.9:c.382+2T>C	ENSP00000317487.5:n.382+2T>C
ENST00000325542.9:c.382+2T>C	ENSP00000317902.5:n.382+2T>C
ENST00000535497.1:c.*99+2T>C	ENSP00000442481.1:n.*99+2T>C
ENST00000536587.5:n.182+2T>C
ENST00000537677.5:c.301+2T>C	ENSP00000441392.1:n.301+2T>C
ENST00000538658.5:c.382+2T>C	ENSP00000445706.1:n.382+2T>C
ENST00000539855.5:c.*161+2T>C	ENSP00000437422.1:n.*161+2T>C
ENST00000540830.5:c.*146+2T>C	ENSP00000440996.1:n.*146+2T>C
ENST00000541150.5:c.355+2T>C	ENSP00000443436.1:n.355+2T>C
ENST00000541365.5:c.301+2T>C	ENSP00000445821.1:n.301+2T>C
ENST00000541768.1:n.135+2T>C
ENST00000544522.5:c.355+2T>C	ENSP00000438065.1:n.355+2T>C
XM_006718945.2:c.382+2T>C	XP_006719008.1:n.382+2T>C
XM_006718945.3:c.382+2T>C	XP_006719008.1:n.382+2T>C
XM_006718946.2:c.382+2T>C	XP_006719009.1:n.382+2T>C
XM_006718946.3:c.382+2T>C	XP_006719009.1:n.382+2T>C
XM_017018592.1:c.355+2T>C	XP_016874081.1:n.355+2T>C
XM_017018593.2:c.382+2T>C	XP_016874082.1:n.382+2T>C
XM_017018594.2:c.382+2T>C	XP_016874083.1:n.382+2T>C
XM_024448779.1:c.301+2T>C	XP_024304547.1:n.301+2T>C
XR_001748050.2:n.610+2T>C