Canonical Allele Identifier: CA377484338

Gene: PTEN

Linked Data

• ClinVar Variation Id: 988005
• ClinVar RCV Id: RCV001269398 ; RCV003353267
• dbSNP Id: rs1860418425
• MyVariant Identifiers: chr10:g.89711911T>G (hg19) ; chr10:g.87952154T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952154T>G , CM000672.2:g.87952154T>G	GRCh38
NC_000010.10:g.89711911T>G , CM000672.1:g.89711911T>G	GRCh37
NC_000010.9:g.89701891T>G	NCBI36
NG_007466.2:g.93716T>G , LRG_311:g.93716T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.529T>G	ENSP00000514759.2:p.Tyr177Asp
ENST00000710265.1:c.529T>G	ENSP00000518161.1:p.Tyr177Asp
ENST00000472832.3:c.529T>G	ENSP00000483066.2:p.Tyr177Asp
ENST00000688158.2:n.1264T>G
ENST00000688922.2:c.*359T>G	ENSP00000508742.2:n.*359T>G
ENST00000700021.1:c.484T>G	ENSP00000514757.1:p.Tyr162Asp
ENST00000700022.1:c.493-5699T>G	ENSP00000514758.1:n.493-5699T>G
ENST00000700023.1:n.1687T>G
ENST00000700024.1:n.1921T>G
ENST00000700025.1:n.1298T>G
ENST00000700029.1:c.363T>G
ENST00000706954.1:c.529T>G	ENSP00000516674.1:p.Tyr177Asp
ENST00000706955.1:c.*564T>G	ENSP00000516675.1:n.*564T>G
ENST00000686459.1:c.*115T>G	ENSP00000508909.1:n.*115T>G
ENST00000688158.1:c.*640T>G	ENSP00000509254.1:n.*640T>G
ENST00000688308.1:c.529T>G	ENSP00000508752.1:p.Tyr177Asp
ENST00000688922.1:c.450T>G
ENST00000693560.1:c.1048T>G	ENSP00000509861.1:p.Tyr350Asp
ENST00000371953.8:c.529T>G MANE Select	ENSP00000361021.3:p.Tyr177Asp
ENST00000371953.7:c.529T>G	ENSP00000361021.3:p.Tyr177Asp
NM_000314.5:c.529T>G	NP_000305.3:p.Tyr177Asp
NM_000314.6:c.529T>G	NP_000305.3:p.Tyr177Asp
NM_001304717.2:c.1048T>G	NP_001291646.2:p.Tyr350Asp
NM_001304718.1:c.-63T>G	NP_001291647.1:n.-63T>G
XM_006717926.2:c.484T>G	XP_006717989.1:p.Tyr162Asp
XM_011539981.1:c.529T>G	XP_011538283.1:p.Tyr177Asp
XM_011539982.1:c.433T>G	XP_011538284.1:p.Tyr145Asp
XR_945789.1:n.1400T>G
XR_945790.1:n.1517T>G
XR_945791.1:n.1205-5699T>G
NM_000314.7:c.529T>G	NP_000305.3:p.Tyr177Asp
NM_001304717.5:c.1048T>G	NP_001291646.4:p.Tyr350Asp
NM_001304718.2:c.-63T>G	NP_001291647.1:n.-63T>G
NM_000314.8:c.529T>G MANE Select	NP_000305.3:p.Tyr177Asp