Canonical Allele Identifier: CA350514

Gene: POLE

Linked Data

• ClinVar Variation Id: 221175
• ClinVar RCV Id: RCV000206490 ; RCV000759321 ; RCV002500666 ; RCV000441299 ; RCV000492710
• dbSNP Id: rs73155056
• ExAC: 12:133201381 T / A
• gnomAD v2: 12-133201381-T-A
• gnomAD v3: 12-132624795-T-A
• gnomAD v4: 12-132624795-T-A
• MyVariant Identifiers: chr12:g.133201381T>A (hg19) ; chr12:g.132624795T>A (hg38)
• PubMed: PMID:25188385

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132624795T>A , CM000674.2:g.132624795T>A	GRCh38
NC_000012.11:g.133201381T>A , CM000674.1:g.133201381T>A	GRCh37
NC_000012.10:g.131711454T>A	NCBI36
NG_033840.1:g.67730A>T , LRG_789:g.67730A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.2301A>T	ENSP00000500921.1:n.2301A>T
ENST00000544870.6:c.4416A>T	ENSP00000479927.2:n.4416A>T
ENST00000699981.1:n.4417A>T
ENST00000699982.1:c.6617A>T
ENST00000699983.1:c.7321A>T
ENST00000699984.1:c.6549A>T
ENST00000320574.10:c.6763A>T MANE Select	ENSP00000322570.5:p.Ile2255Phe
ENST00000434528.4:c.2301A>T	ENSP00000500921.1:n.2301A>T
ENST00000672002.1:c.4436A>T	ENSP00000500233.1:n.4436A>T
ENST00000672742.1:c.*6969A>T	ENSP00000500279.1:n.*6969A>T
ENST00000320574.9:c.6763A>T	ENSP00000322570.5:p.Ile2255Phe
ENST00000534922.5:n.1420A>T
ENST00000535270.5:c.6682A>T	ENSP00000445753.1:p.Ile2228Phe
ENST00000537064.5:c.*6514A>T	ENSP00000442578.1:n.*6514A>T
ENST00000541627.2:n.1063A>T
ENST00000544692.5:n.2132A>T
NM_006231.3:c.6763A>T , LRG_789t1:c.6763A>T	NP_006222.2:p.Ile2255Phe
XR_002957339.1:n.7655A>T
NM_006231.4:c.6763A>T MANE Select	NP_006222.2:p.Ile2255Phe