Canonical Allele Identifier: CA235845

Gene: CEP57

Linked Data

• ClinVar Variation Id: 191025
• ClinVar RCV Id: RCV000171200 ; RCV001331874
• dbSNP Id: rs577173144
• MyVariant Identifiers: chr11:g.95532439G>C (hg19) ; chr11:g.95799275G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95799275G>C , CM000673.2:g.95799275G>C	GRCh38
NC_000011.9:g.95532439G>C , CM000673.1:g.95532439G>C	GRCh37
NC_000011.8:g.95172087G>C	NCBI36
NG_029829.1:g.13815G>C , LRG_526:g.13815G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325542.10:c.89G>C MANE Select	ENSP00000317902.5:p.Arg30Pro
ENST00000325486.9:c.89G>C	ENSP00000317487.5:p.Arg30Pro
ENST00000325542.9:c.89G>C	ENSP00000317902.5:p.Arg30Pro
ENST00000535497.1:c.45+8532G>C	ENSP00000442481.1:n.45+8532G>C
ENST00000537677.5:c.8G>C	ENSP00000441392.1:p.Arg3Pro
ENST00000538095.1:c.*69G>C	ENSP00000443866.1:n.*69G>C
ENST00000538658.5:c.89G>C	ENSP00000445706.1:p.Arg30Pro
ENST00000539855.5:c.89G>C	ENSP00000437422.1:p.Arg30Pro
ENST00000540830.5:c.89G>C	ENSP00000440996.1:p.Arg30Pro
ENST00000541150.5:c.62G>C	ENSP00000443436.1:p.Arg21Pro
ENST00000541365.5:c.8G>C	ENSP00000445821.1:p.Arg3Pro
ENST00000544522.5:c.62G>C	ENSP00000438065.1:p.Arg21Pro
NM_001243776.1:c.62G>C	NP_001230705.1:p.Arg21Pro
NM_001243777.1:c.89G>C	NP_001230706.1:p.Arg30Pro
NM_014679.4:c.89G>C	NP_055494.2:p.Arg30Pro
XM_006718945.2:c.89G>C	XP_006719008.1:p.Arg30Pro
XM_006718946.2:c.89G>C	XP_006719009.1:p.Arg30Pro
NM_001363604.1:c.8G>C	NP_001350533.1:p.Arg3Pro
XM_006718945.3:c.89G>C	XP_006719008.1:p.Arg30Pro
XM_006718946.3:c.89G>C	XP_006719009.1:p.Arg30Pro
XM_017018592.1:c.62G>C	XP_016874081.1:p.Arg21Pro
XM_017018593.2:c.89G>C	XP_016874082.1:p.Arg30Pro
XM_017018594.2:c.89G>C	XP_016874083.1:p.Arg30Pro
XM_024448779.1:c.8G>C	XP_024304547.1:p.Arg3Pro
XR_001748050.2:n.317G>C
NM_014679.5:c.89G>C MANE Select	NP_055494.2:p.Arg30Pro
NM_001243776.2:c.62G>C	NP_001230705.1:p.Arg21Pro
NM_001243777.2:c.89G>C	NP_001230706.1:p.Arg30Pro
NM_001363604.2:c.8G>C	NP_001350533.1:p.Arg3Pro