Canonical Allele Identifier: CA6894448

Gene: POLE

Linked Data

• ClinVar Variation Id: 240634
• ClinVar RCV Id: RCV001281043 ; RCV003165639 ; RCV003224235
• dbSNP Id: rs781513537
• ExAC: 12:133257834 G / A
• gnomAD v2: 12-133257834-G-A
• gnomAD v3: 12-132681248-G-A
• gnomAD v4: 12-132681248-G-A
• MyVariant Identifiers: chr12:g.133257834G>A (hg19) ; chr12:g.132681248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132681248G>A , CM000674.2:g.132681248G>A	GRCh38
NC_000012.11:g.133257834G>A , CM000674.1:g.133257834G>A	GRCh37
NC_000012.10:g.131767907G>A	NCBI36
NG_033840.1:g.11277C>T , LRG_789:g.11277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.121C>T
ENST00000699985.1:n.155C>T
ENST00000320574.10:c.94C>T MANE Select	ENSP00000322570.5:p.Leu32Phe
ENST00000672742.1:c.94C>T	ENSP00000500279.1:p.Leu32Phe
ENST00000320574.9:c.94C>T	ENSP00000322570.5:p.Leu32Phe
ENST00000535270.5:c.94C>T	ENSP00000445753.1:p.Leu32Phe
ENST00000537064.5:c.94C>T	ENSP00000442578.1:p.Leu32Phe
ENST00000539357.1:n.144C>T
ENST00000539618.1:n.32C>T
NM_006231.3:c.94C>T , LRG_789t1:c.94C>T	NP_006222.2:p.Leu32Phe
XM_011534795.1:c.94C>T	XP_011533097.1:p.Leu32Phe
XM_011534796.1:c.-36C>T	XP_011533098.1:n.-36C>T
XM_011534799.1:c.94C>T	XP_011533101.1:p.Leu32Phe
XM_011534800.1:c.94C>T	XP_011533102.1:p.Leu32Phe
XM_011534801.1:c.94C>T	XP_011533103.1:p.Leu32Phe
XR_941395.1:n.303C>T
XM_011534795.3:c.94C>T	XP_011533097.1:p.Leu32Phe
XM_011534799.2:c.94C>T	XP_011533101.1:p.Leu32Phe
XR_002957338.1:n.298C>T
XR_002957339.1:n.298C>T
XR_941395.2:n.298C>T
NM_006231.4:c.94C>T MANE Select	NP_006222.2:p.Leu32Phe