Canonical Allele Identifier: CA6892452

Gene: POLE

Linked Data

• ClinVar Variation Id: 405886
• ClinVar RCV Id: RCV000471957 ; RCV000760025 ; RCV001269354
• dbSNP Id: rs748008084
• ExAC: 12:133214625 C / T
• gnomAD v2: 12-133214625-C-T
• gnomAD v3: 12-132638039-C-T
• gnomAD v4: 12-132638039-C-T
• MyVariant Identifiers: chr12:g.133214625C>T (hg19) ; chr12:g.132638039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132638039C>T , CM000674.2:g.132638039C>T	GRCh38
NC_000012.11:g.133214625C>T , CM000674.1:g.133214625C>T	GRCh37
NC_000012.10:g.131724698C>T	NCBI36
NG_033840.1:g.54486G>A , LRG_789:g.54486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.3823G>A
ENST00000434528.5:c.1191G>A	ENSP00000500921.1:n.1191G>A
ENST00000544870.6:c.3326G>A	ENSP00000479927.2:n.3326G>A
ENST00000699981.1:n.3307G>A
ENST00000699982.1:c.5507G>A
ENST00000699983.1:c.6211G>A
ENST00000699984.1:c.5507G>A
ENST00000320574.10:c.5653G>A MANE Select	ENSP00000322570.5:p.Ala1885Thr
ENST00000434528.4:c.1191G>A	ENSP00000500921.1:n.1191G>A
ENST00000672002.1:c.3326G>A	ENSP00000500233.1:n.3326G>A
ENST00000672742.1:c.*5859G>A	ENSP00000500279.1:n.*5859G>A
ENST00000320574.9:c.5653G>A	ENSP00000322570.5:p.Ala1885Thr
ENST00000434528.3:n.636G>A
ENST00000535270.5:c.5572G>A	ENSP00000445753.1:p.Ala1858Thr
ENST00000537064.5:c.*5404G>A	ENSP00000442578.1:n.*5404G>A
ENST00000541213.5:n.1131G>A
NM_006231.3:c.5653G>A , LRG_789t1:c.5653G>A	NP_006222.2:p.Ala1885Thr
XM_011534795.1:c.5653G>A	XP_011533097.1:p.Ala1885Thr
XM_011534796.1:c.5524G>A	XP_011533098.1:p.Ala1842Thr
XM_011534797.1:c.4732G>A	XP_011533099.1:p.Ala1578Thr
XM_011534798.1:c.4315G>A	XP_011533100.1:p.Ala1439Thr
XM_011534802.1:c.2641G>A	XP_011533104.1:p.Ala881Thr
XM_011534795.3:c.5653G>A	XP_011533097.1:p.Ala1885Thr
XM_011534797.3:c.4732G>A	XP_011533099.1:p.Ala1578Thr
XM_011534802.3:c.2641G>A	XP_011533104.1:p.Ala881Thr
XR_002957338.1:n.6486G>A
XR_002957339.1:n.6199G>A
NM_006231.4:c.5653G>A MANE Select	NP_006222.2:p.Ala1885Thr