Canonical Allele Identifier: CA377785065

Gene: PTEN

Linked Data

• ClinVar Variation Id: 468673
• ClinVar RCV Id: RCV000531588 ; RCV001014236 ; RCV003451169
• dbSNP Id: rs773176120
• COSMIC: COSM28881
• MyVariant Identifiers: chr10:g.89685309C>G (hg19) ; chr10:g.87925552C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87925552C>G , CM000672.2:g.87925552C>G	GRCh38
NC_000010.10:g.89685309C>G , CM000672.1:g.89685309C>G	GRCh37
NC_000010.9:g.89675289C>G	NCBI36
NG_007466.2:g.67114C>G , LRG_311:g.67114C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.204C>G	ENSP00000514759.2:p.Tyr68Ter
ENST00000710265.1:c.204C>G	ENSP00000518161.1:p.Tyr68Ter
ENST00000472832.3:c.204C>G	ENSP00000483066.2:p.Tyr68Ter
ENST00000688158.2:n.939C>G
ENST00000688922.2:c.204C>G	ENSP00000508742.2:p.Tyr68Ter
ENST00000700021.1:c.165-5494C>G	ENSP00000514757.1:n.165-5494C>G
ENST00000700022.1:c.204C>G	ENSP00000514758.1:p.Tyr68Ter
ENST00000700029.1:c.38C>G
ENST00000706954.1:c.204C>G	ENSP00000516674.1:p.Tyr68Ter
ENST00000706955.1:c.*239C>G	ENSP00000516675.1:n.*239C>G
ENST00000686459.1:c.204C>G	ENSP00000508909.1:p.Tyr68Ter
ENST00000688158.1:c.*315C>G	ENSP00000509254.1:n.*315C>G
ENST00000688308.1:c.204C>G	ENSP00000508752.1:p.Tyr68Ter
ENST00000688922.1:c.73C>G
ENST00000693560.1:c.723C>G	ENSP00000509861.1:p.Tyr241Ter
ENST00000371953.8:c.204C>G MANE Select	ENSP00000361021.3:p.Tyr68Ter
ENST00000371953.7:c.204C>G	ENSP00000361021.3:p.Tyr68Ter
ENST00000498703.1:n.30C>G
ENST00000610634.1:c.102C>G	ENSP00000477517.1:p.Tyr34Ter
NM_000314.5:c.204C>G	NP_000305.3:p.Tyr68Ter
NM_000314.6:c.204C>G	NP_000305.3:p.Tyr68Ter
NM_001304717.2:c.723C>G	NP_001291646.2:p.Tyr241Ter
NM_001304718.1:c.-541-5494C>G	NP_001291647.1:n.-541-5494C>G
XM_006717926.2:c.165-5494C>G	XP_006717989.1:n.165-5494C>G
XM_011539981.1:c.204C>G	XP_011538283.1:p.Tyr68Ter
XM_011539982.1:c.108C>G	XP_011538284.1:p.Tyr36Ter
XR_945789.1:n.916C>G
XR_945790.1:n.916C>G
XR_945791.1:n.916C>G
NM_000314.7:c.204C>G	NP_000305.3:p.Tyr68Ter
NM_001304717.5:c.723C>G	NP_001291646.4:p.Tyr241Ter
NM_001304718.2:c.-541-5494C>G	NP_001291647.1:n.-541-5494C>G
NM_000314.8:c.204C>G MANE Select	NP_000305.3:p.Tyr68Ter