Canonical Allele Identifier: CA377484352

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1746919
• ClinVar RCV Id: RCV002346879
• dbSNP Id: rs786204866
• COSMIC: COSM1349563
• MyVariant Identifiers: chr10:g.89711915A>T (hg19) ; chr10:g.87952158A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952158A>T , CM000672.2:g.87952158A>T	GRCh38
NC_000010.10:g.89711915A>T , CM000672.1:g.89711915A>T	GRCh37
NC_000010.9:g.89701895A>T	NCBI36
NG_007466.2:g.93720A>T , LRG_311:g.93720A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.533A>T	ENSP00000514759.2:p.Tyr178Phe
ENST00000710265.1:c.533A>T	ENSP00000518161.1:p.Tyr178Phe
ENST00000472832.3:c.533A>T	ENSP00000483066.2:p.Tyr178Phe
ENST00000688158.2:n.1268A>T
ENST00000688922.2:c.*363A>T	ENSP00000508742.2:n.*363A>T
ENST00000700021.1:c.488A>T	ENSP00000514757.1:p.Tyr163Phe
ENST00000700022.1:c.493-5695A>T	ENSP00000514758.1:n.493-5695A>T
ENST00000700023.1:n.1691A>T
ENST00000700024.1:n.1925A>T
ENST00000700025.1:n.1302A>T
ENST00000700029.1:c.367A>T
ENST00000706954.1:c.533A>T	ENSP00000516674.1:p.Tyr178Phe
ENST00000706955.1:c.*568A>T	ENSP00000516675.1:n.*568A>T
ENST00000686459.1:c.*119A>T	ENSP00000508909.1:n.*119A>T
ENST00000688158.1:c.*644A>T	ENSP00000509254.1:n.*644A>T
ENST00000688308.1:c.533A>T	ENSP00000508752.1:p.Tyr178Phe
ENST00000688922.1:c.454A>T
ENST00000693560.1:c.1052A>T	ENSP00000509861.1:p.Tyr351Phe
ENST00000371953.8:c.533A>T MANE Select	ENSP00000361021.3:p.Tyr178Phe
ENST00000371953.7:c.533A>T	ENSP00000361021.3:p.Tyr178Phe
NM_000314.5:c.533A>T	NP_000305.3:p.Tyr178Phe
NM_000314.6:c.533A>T	NP_000305.3:p.Tyr178Phe
NM_001304717.2:c.1052A>T	NP_001291646.2:p.Tyr351Phe
NM_001304718.1:c.-59A>T	NP_001291647.1:n.-59A>T
XM_006717926.2:c.488A>T	XP_006717989.1:p.Tyr163Phe
XM_011539981.1:c.533A>T	XP_011538283.1:p.Tyr178Phe
XM_011539982.1:c.437A>T	XP_011538284.1:p.Tyr146Phe
XR_945789.1:n.1404A>T
XR_945790.1:n.1521A>T
XR_945791.1:n.1205-5695A>T
NM_000314.7:c.533A>T	NP_000305.3:p.Tyr178Phe
NM_001304717.5:c.1052A>T	NP_001291646.4:p.Tyr351Phe
NM_001304718.2:c.-59A>T	NP_001291647.1:n.-59A>T
NM_000314.8:c.533A>T MANE Select	NP_000305.3:p.Tyr178Phe