Canonical Allele Identifier: CA6239298

Gene: CEP57

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95790719T>C , CM000673.2:g.95790719T>C	GRCh38
NC_000011.9:g.95523883T>C , CM000673.1:g.95523883T>C	GRCh37
NC_000011.8:g.95163531T>C	NCBI36
NG_029829.1:g.5259T>C , LRG_526:g.5259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325542.10:c.21T>C MANE Select	ENSP00000317902.5:p.Ser7=
ENST00000325486.9:c.21T>C	ENSP00000317487.5:p.Ser7=
ENST00000325542.9:c.21T>C	ENSP00000317902.5:p.Ser7=
ENST00000535497.1:c.21T>C	ENSP00000442481.1:p.Ser7=
ENST00000537677.5:c.-37+577T>C	ENSP00000441392.1:n.-37+577T>C
ENST00000538095.1:c.21T>C	ENSP00000443866.1:p.Ser7=
ENST00000538658.5:c.21T>C	ENSP00000445706.1:p.Ser7=
ENST00000539855.5:c.21T>C	ENSP00000437422.1:p.Ser7=
ENST00000540830.5:c.21T>C	ENSP00000440996.1:p.Ser7=
ENST00000541365.5:c.-56T>C	ENSP00000445821.1:n.-56T>C
ENST00000544522.5:c.-51T>C	ENSP00000438065.1:n.-51T>C
NM_001243776.1:c.-51T>C	NP_001230705.1:n.-51T>C
NM_001243777.1:c.21T>C	NP_001230706.1:p.Ser7=
NM_014679.4:c.21T>C	NP_055494.2:p.Ser7=
XM_006718945.2:c.21T>C	XP_006719008.1:p.Ser7=
XM_006718946.2:c.21T>C	XP_006719009.1:p.Ser7=
NM_001363604.1:c.-374T>C	NP_001350533.1:n.-374T>C
XM_006718945.3:c.21T>C	XP_006719008.1:p.Ser7=
XM_006718946.3:c.21T>C	XP_006719009.1:p.Ser7=
XM_017018593.2:c.21T>C	XP_016874082.1:p.Ser7=
XM_017018594.2:c.21T>C	XP_016874083.1:p.Ser7=
XR_001748050.2:n.249T>C
NM_014679.5:c.21T>C MANE Select	NP_055494.2:p.Ser7=
NM_001243776.2:c.-51T>C	NP_001230705.1:n.-51T>C
NM_001243777.2:c.21T>C	NP_001230706.1:p.Ser7=
NM_001363604.2:c.-374T>C	NP_001350533.1:n.-374T>C