Canonical Allele Identifier: CA6891953

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132624727C>A , CM000674.2:g.132624727C>A	GRCh38
NC_000012.11:g.133201313C>A , CM000674.1:g.133201313C>A	GRCh37
NC_000012.10:g.131711386C>A	NCBI36
NG_033840.1:g.67798G>T , LRG_789:g.67798G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.6831G>T MANE Select	NP_006222.2:p.Leu2277=
ENST00000320574.10:c.6831G>T MANE Select	ENSP00000322570.5:p.Leu2277=
NM_006231.3:c.6831G>T , LRG_789t1:c.6831G>T	NP_006222.2:p.Leu2277=
ENST00000320574.9:c.6831G>T	ENSP00000322570.5:p.Leu2277=
ENST00000434528.4:c.2369G>T	ENSP00000500921.1:n.2369G>T
ENST00000434528.5:c.2369G>T	ENSP00000500921.1:n.2369G>T
ENST00000534922.5:n.1488G>T
ENST00000535270.5:c.6750G>T	ENSP00000445753.1:p.Leu2250=
ENST00000537064.5:c.*6582G>T	ENSP00000442578.1:n.*6582G>T
ENST00000541627.2:n.1131G>T
ENST00000544692.5:n.2200G>T
ENST00000544870.6:c.4484G>T	ENSP00000479927.2:n.4484G>T
ENST00000672002.1:c.4504G>T	ENSP00000500233.1:n.4504G>T
ENST00000672742.1:c.*7037G>T	ENSP00000500279.1:n.*7037G>T
ENST00000699981.1:n.4485G>T
ENST00000699982.1:c.6685G>T
ENST00000699983.1:c.7389G>T
ENST00000699984.1:c.6617G>T
XR_002957339.1:n.7723G>T