Canonical Allele Identifier: CA377485626

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1763987
• ClinVar RCV Id: RCV002447966
• MyVariant Identifiers: chr10:g.89720708T>A (hg19) ; chr10:g.87960951T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960951T>A , CM000672.2:g.87960951T>A	GRCh38
NC_000010.10:g.89720708T>A , CM000672.1:g.89720708T>A	GRCh37
NC_000010.9:g.89710688T>A	NCBI36
NG_007466.2:g.102513T>A , LRG_311:g.102513T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.952T>A	ENSP00000514759.2:p.Ser318Thr
ENST00000710265.1:c.859T>A	ENSP00000518161.1:p.Ser287Thr
ENST00000472832.3:c.859T>A	ENSP00000483066.2:p.Ser287Thr
ENST00000688158.2:n.1594T>A
ENST00000688922.2:c.*689T>A	ENSP00000508742.2:n.*689T>A
ENST00000700021.1:c.814T>A	ENSP00000514757.1:p.Ser272Thr
ENST00000700022.1:c.*198T>A	ENSP00000514758.1:n.*198T>A
ENST00000700023.1:n.2017T>A
ENST00000700024.1:n.2251T>A
ENST00000700025.1:n.1628T>A
ENST00000700026.1:n.496T>A
ENST00000700029.1:c.786T>A
ENST00000706954.1:c.859T>A	ENSP00000516674.1:p.Ser287Thr
ENST00000706955.1:c.*894T>A	ENSP00000516675.1:n.*894T>A
ENST00000686459.1:c.*445T>A	ENSP00000508909.1:n.*445T>A
ENST00000688158.1:c.*970T>A	ENSP00000509254.1:n.*970T>A
ENST00000688308.1:c.859T>A	ENSP00000508752.1:p.Ser287Thr
ENST00000688922.1:c.780T>A
ENST00000693560.1:c.1378T>A	ENSP00000509861.1:p.Ser460Thr
ENST00000371953.8:c.859T>A MANE Select	ENSP00000361021.3:p.Ser287Thr
ENST00000371953.7:c.859T>A	ENSP00000361021.3:p.Ser287Thr
ENST00000472832.2:c.286T>A	ENSP00000483066.1:p.Ser96Thr
NM_000314.5:c.859T>A	NP_000305.3:p.Ser287Thr
NM_000314.6:c.859T>A	NP_000305.3:p.Ser287Thr
NM_001304717.2:c.1378T>A	NP_001291646.2:p.Ser460Thr
NM_001304718.1:c.268T>A	NP_001291647.1:p.Ser90Thr
XM_006717926.2:c.814T>A	XP_006717989.1:p.Ser272Thr
XM_011539981.1:c.859T>A	XP_011538283.1:p.Ser287Thr
XM_011539982.1:c.763T>A	XP_011538284.1:p.Ser255Thr
XR_945791.1:n.1429T>A
NM_000314.7:c.859T>A	NP_000305.3:p.Ser287Thr
NM_001304717.5:c.1378T>A	NP_001291646.4:p.Ser460Thr
NM_001304718.2:c.268T>A	NP_001291647.1:p.Ser90Thr
NM_000314.8:c.859T>A MANE Select	NP_000305.3:p.Ser287Thr