Canonical Allele Identifier: CA16602935

Gene: POLE

Linked Data

• ClinVar Variation Id: 376503
• ClinVar RCV Id: RCV001420964 ; RCV003766183
• dbSNP Id: rs1057519945
• COSMIC: COSM204094 ; COSM276835
• MyVariant Identifiers: chr12:g.133250289C>A (hg19) ; chr12:g.132673703C>A (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673703C>A , CM000674.2:g.132673703C>A	GRCh38
NC_000012.11:g.133250289C>A , CM000674.1:g.133250289C>A	GRCh37
NC_000012.10:g.131760362C>A	NCBI36
NG_033840.1:g.18822G>T , LRG_789:g.18822G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.1258G>T
ENST00000699982.1:c.1085G>T
ENST00000699983.1:c.1085G>T
ENST00000699984.1:c.1085G>T
ENST00000320574.10:c.1231G>T MANE Select	ENSP00000322570.5:p.Val411Leu
ENST00000672742.1:c.*733G>T	ENSP00000500279.1:n.*733G>T
ENST00000320574.9:c.1231G>T	ENSP00000322570.5:p.Val411Leu
ENST00000535270.5:c.1150G>T	ENSP00000445753.1:p.Val384Leu
ENST00000535934.2:n.1106G>T
ENST00000537064.5:c.*278G>T	ENSP00000442578.1:n.*278G>T
NM_006231.3:c.1231G>T , LRG_789t1:c.1231G>T	NP_006222.2:p.Val411Leu
XM_011534795.1:c.1231G>T	XP_011533097.1:p.Val411Leu
XM_011534796.1:c.1102G>T	XP_011533098.1:p.Val368Leu
XM_011534797.1:c.310G>T	XP_011533099.1:p.Val104Leu
XM_011534799.1:c.1231G>T	XP_011533101.1:p.Val411Leu
XM_011534800.1:c.1231G>T	XP_011533102.1:p.Val411Leu
XM_011534801.1:c.1231G>T	XP_011533103.1:p.Val411Leu
XR_941395.1:n.1440G>T
XM_011534795.3:c.1231G>T	XP_011533097.1:p.Val411Leu
XM_011534797.3:c.310G>T	XP_011533099.1:p.Val104Leu
XM_011534799.2:c.1231G>T	XP_011533101.1:p.Val411Leu
XR_002957338.1:n.1435G>T
XR_002957339.1:n.1435G>T
XR_941395.2:n.1435G>T
NM_006231.4:c.1231G>T MANE Select	NP_006222.2:p.Val411Leu