Canonical Allele Identifier: CA387356414

Gene: POLE

Linked Data

• ClinVar Variation Id: 664758
• ClinVar RCV Id: RCV002408993 ; RCV003539360
• dbSNP Id: rs1307922680
• gnomAD v2: 12-133248904-G-A
• gnomAD v3: 12-132672318-G-A
• gnomAD v4: 12-132672318-G-A
• MyVariant Identifiers: chr12:g.133248904G>A (hg19) ; chr12:g.132672318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672318G>A , CM000674.2:g.132672318G>A	GRCh38
NC_000012.11:g.133248904G>A , CM000674.1:g.133248904G>A	GRCh37
NC_000012.10:g.131758977G>A	NCBI36
NG_033840.1:g.20207C>T , LRG_789:g.20207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.446C>T
ENST00000699982.1:c.1545C>T
ENST00000699983.1:c.1545C>T
ENST00000699984.1:c.1545C>T
ENST00000320574.10:c.1691C>T MANE Select	ENSP00000322570.5:p.Pro564Leu
ENST00000672742.1:c.*1193C>T	ENSP00000500279.1:n.*1193C>T
ENST00000320574.9:c.1691C>T	ENSP00000322570.5:p.Pro564Leu
ENST00000535270.5:c.1610C>T	ENSP00000445753.1:p.Pro537Leu
ENST00000537064.5:c.*738C>T	ENSP00000442578.1:n.*738C>T
ENST00000539215.5:n.446C>T
NM_006231.3:c.1691C>T , LRG_789t1:c.1691C>T	NP_006222.2:p.Pro564Leu
XM_011534795.1:c.1691C>T	XP_011533097.1:p.Pro564Leu
XM_011534796.1:c.1562C>T	XP_011533098.1:p.Pro521Leu
XM_011534797.1:c.770C>T	XP_011533099.1:p.Pro257Leu
XM_011534798.1:c.353C>T	XP_011533100.1:p.Pro118Leu
XM_011534799.1:c.1691C>T	XP_011533101.1:p.Pro564Leu
XM_011534800.1:c.1691C>T	XP_011533102.1:p.Pro564Leu
XM_011534801.1:c.1691C>T	XP_011533103.1:p.Pro564Leu
XR_941395.1:n.1900C>T
XM_011534795.3:c.1691C>T	XP_011533097.1:p.Pro564Leu
XM_011534797.3:c.770C>T	XP_011533099.1:p.Pro257Leu
XM_011534799.2:c.1691C>T	XP_011533101.1:p.Pro564Leu
XR_002957338.1:n.1895C>T
XR_002957339.1:n.1895C>T
XR_941395.2:n.1895C>T
NM_006231.4:c.1691C>T MANE Select	NP_006222.2:p.Pro564Leu