Canonical Allele Identifier: CA377484313

Gene: PTEN

Linked Data

• ClinVar Variation Id: 517520
• ClinVar RCV Id: RCV002343167
• dbSNP Id: rs786201867
• gnomAD v4: 10-87952147-T-G
• COSMIC: COSM5324
• MyVariant Identifiers: chr10:g.89711904T>G (hg19) ; chr10:g.87952147T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952147T>G , CM000672.2:g.87952147T>G	GRCh38
NC_000010.10:g.89711904T>G , CM000672.1:g.89711904T>G	GRCh37
NC_000010.9:g.89701884T>G	NCBI36
NG_007466.2:g.93709T>G , LRG_311:g.93709T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.522T>G	ENSP00000514759.2:p.Tyr174Ter
ENST00000710265.1:c.522T>G	ENSP00000518161.1:p.Tyr174Ter
ENST00000472832.3:c.522T>G	ENSP00000483066.2:p.Tyr174Ter
ENST00000688158.2:n.1257T>G
ENST00000688922.2:c.*352T>G	ENSP00000508742.2:n.*352T>G
ENST00000700021.1:c.477T>G	ENSP00000514757.1:p.Tyr159Ter
ENST00000700022.1:c.493-5706T>G	ENSP00000514758.1:n.493-5706T>G
ENST00000700023.1:n.1680T>G
ENST00000700024.1:n.1914T>G
ENST00000700025.1:n.1291T>G
ENST00000700029.1:c.356T>G
ENST00000706954.1:c.522T>G	ENSP00000516674.1:p.Tyr174Ter
ENST00000706955.1:c.*557T>G	ENSP00000516675.1:n.*557T>G
ENST00000686459.1:c.*108T>G	ENSP00000508909.1:n.*108T>G
ENST00000688158.1:c.*633T>G	ENSP00000509254.1:n.*633T>G
ENST00000688308.1:c.522T>G	ENSP00000508752.1:p.Tyr174Ter
ENST00000688922.1:c.443T>G
ENST00000693560.1:c.1041T>G	ENSP00000509861.1:p.Tyr347Ter
ENST00000371953.8:c.522T>G MANE Select	ENSP00000361021.3:p.Tyr174Ter
ENST00000371953.7:c.522T>G	ENSP00000361021.3:p.Tyr174Ter
NM_000314.5:c.522T>G	NP_000305.3:p.Tyr174Ter
NM_000314.6:c.522T>G	NP_000305.3:p.Tyr174Ter
NM_001304717.2:c.1041T>G	NP_001291646.2:p.Tyr347Ter
NM_001304718.1:c.-70T>G	NP_001291647.1:n.-70T>G
XM_006717926.2:c.477T>G	XP_006717989.1:p.Tyr159Ter
XM_011539981.1:c.522T>G	XP_011538283.1:p.Tyr174Ter
XM_011539982.1:c.426T>G	XP_011538284.1:p.Tyr142Ter
XR_945789.1:n.1393T>G
XR_945790.1:n.1510T>G
XR_945791.1:n.1205-5706T>G
NM_000314.7:c.522T>G	NP_000305.3:p.Tyr174Ter
NM_001304717.5:c.1041T>G	NP_001291646.4:p.Tyr347Ter
NM_001304718.2:c.-70T>G	NP_001291647.1:n.-70T>G
NM_000314.8:c.522T>G MANE Select	NP_000305.3:p.Tyr174Ter