Canonical Allele Identifier: CA377484334

Gene: PTEN

Linked Data

• ClinVar Variation Id: 492732
• ClinVar RCV Id: RCV000583208
• dbSNP Id: rs1057522285
• COSMIC: COSM5318
• MyVariant Identifiers: chr10:g.89711910T>G (hg19) ; chr10:g.87952153T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952153T>G , CM000672.2:g.87952153T>G	GRCh38
NC_000010.10:g.89711910T>G , CM000672.1:g.89711910T>G	GRCh37
NC_000010.9:g.89701890T>G	NCBI36
NG_007466.2:g.93715T>G , LRG_311:g.93715T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.528T>G	ENSP00000514759.2:p.Tyr176Ter
ENST00000710265.1:c.528T>G	ENSP00000518161.1:p.Tyr176Ter
ENST00000472832.3:c.528T>G	ENSP00000483066.2:p.Tyr176Ter
ENST00000688158.2:n.1263T>G
ENST00000688922.2:c.*358T>G	ENSP00000508742.2:n.*358T>G
ENST00000700021.1:c.483T>G	ENSP00000514757.1:p.Tyr161Ter
ENST00000700022.1:c.493-5700T>G	ENSP00000514758.1:n.493-5700T>G
ENST00000700023.1:n.1686T>G
ENST00000700024.1:n.1920T>G
ENST00000700025.1:n.1297T>G
ENST00000700029.1:c.362T>G
ENST00000706954.1:c.528T>G	ENSP00000516674.1:p.Tyr176Ter
ENST00000706955.1:c.*563T>G	ENSP00000516675.1:n.*563T>G
ENST00000686459.1:c.*114T>G	ENSP00000508909.1:n.*114T>G
ENST00000688158.1:c.*639T>G	ENSP00000509254.1:n.*639T>G
ENST00000688308.1:c.528T>G	ENSP00000508752.1:p.Tyr176Ter
ENST00000688922.1:c.449T>G
ENST00000693560.1:c.1047T>G	ENSP00000509861.1:p.Tyr349Ter
ENST00000371953.8:c.528T>G MANE Select	ENSP00000361021.3:p.Tyr176Ter
ENST00000371953.7:c.528T>G	ENSP00000361021.3:p.Tyr176Ter
NM_000314.5:c.528T>G	NP_000305.3:p.Tyr176Ter
NM_000314.6:c.528T>G	NP_000305.3:p.Tyr176Ter
NM_001304717.2:c.1047T>G	NP_001291646.2:p.Tyr349Ter
NM_001304718.1:c.-64T>G	NP_001291647.1:n.-64T>G
XM_006717926.2:c.483T>G	XP_006717989.1:p.Tyr161Ter
XM_011539981.1:c.528T>G	XP_011538283.1:p.Tyr176Ter
XM_011539982.1:c.432T>G	XP_011538284.1:p.Tyr144Ter
XR_945789.1:n.1399T>G
XR_945790.1:n.1516T>G
XR_945791.1:n.1205-5700T>G
NM_000314.7:c.528T>G	NP_000305.3:p.Tyr176Ter
NM_001304717.5:c.1047T>G	NP_001291646.4:p.Tyr349Ter
NM_001304718.2:c.-64T>G	NP_001291647.1:n.-64T>G
NM_000314.8:c.528T>G MANE Select	NP_000305.3:p.Tyr176Ter