Canonical Allele Identifier: CA377486035

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1767858
• ClinVar RCV Id: RCV002376623
• COSMIC: COSM5209
• MyVariant Identifiers: chr10:g.89720818T>A (hg19) ; chr10:g.87961061T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961061T>A , CM000672.2:g.87961061T>A	GRCh38
NC_000010.10:g.89720818T>A , CM000672.1:g.89720818T>A	GRCh37
NC_000010.9:g.89710798T>A	NCBI36
NG_007466.2:g.102623T>A , LRG_311:g.102623T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1062T>A	ENSP00000514759.2:p.Asn354Lys
ENST00000710265.1:c.969T>A	ENSP00000518161.1:p.Asn323Lys
ENST00000472832.3:c.969T>A	ENSP00000483066.2:p.Asn323Lys
ENST00000688158.2:n.1704T>A
ENST00000688922.2:c.*799T>A	ENSP00000508742.2:n.*799T>A
ENST00000700021.1:c.924T>A	ENSP00000514757.1:p.Asn308Lys
ENST00000700022.1:c.*308T>A	ENSP00000514758.1:n.*308T>A
ENST00000700023.1:n.2127T>A
ENST00000700024.1:n.2361T>A
ENST00000700025.1:n.1738T>A
ENST00000700026.1:n.606T>A
ENST00000706954.1:c.969T>A	ENSP00000516674.1:p.Asn323Lys
ENST00000706955.1:c.*1004T>A	ENSP00000516675.1:n.*1004T>A
ENST00000686459.1:c.*555T>A	ENSP00000508909.1:n.*555T>A
ENST00000688158.1:c.*1080T>A	ENSP00000509254.1:n.*1080T>A
ENST00000688308.1:c.969T>A	ENSP00000508752.1:p.Asn323Lys
ENST00000688922.1:c.890T>A
ENST00000693560.1:c.1488T>A	ENSP00000509861.1:p.Asn496Lys
ENST00000371953.8:c.969T>A MANE Select	ENSP00000361021.3:p.Asn323Lys
ENST00000371953.7:c.969T>A	ENSP00000361021.3:p.Asn323Lys
ENST00000472832.2:c.396T>A	ENSP00000483066.1:p.Asn132Lys
NM_000314.5:c.969T>A	NP_000305.3:p.Asn323Lys
NM_000314.6:c.969T>A	NP_000305.3:p.Asn323Lys
NM_001304717.2:c.1488T>A	NP_001291646.2:p.Asn496Lys
NM_001304718.1:c.378T>A	NP_001291647.1:p.Asn126Lys
XM_006717926.2:c.924T>A	XP_006717989.1:p.Asn308Lys
XM_011539981.1:c.969T>A	XP_011538283.1:p.Asn323Lys
XM_011539982.1:c.873T>A	XP_011538284.1:p.Asn291Lys
XR_945791.1:n.1539T>A
NM_000314.7:c.969T>A	NP_000305.3:p.Asn323Lys
NM_001304717.5:c.1488T>A	NP_001291646.4:p.Asn496Lys
NM_001304718.2:c.378T>A	NP_001291647.1:p.Asn126Lys
NM_000314.8:c.969T>A MANE Select	NP_000305.3:p.Asn323Lys