Canonical Allele Identifier: CA470671433

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1118243
• ClinVar RCV Id: RCV001447267
• dbSNP Id: rs2132290018
• MyVariant Identifiers: chr10:g.89725160C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965403C>T , CM000672.2:g.87965403C>T	GRCh38
NC_000010.10:g.89725160C>T , CM000672.1:g.89725160C>T	GRCh37
NC_000010.9:g.89715140C>T	NCBI36
NG_007466.2:g.106965C>T , LRG_311:g.106965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1236C>T	ENSP00000514759.2:p.Asp412=
ENST00000710265.1:c.*172C>T	ENSP00000518161.1:n.*172C>T
ENST00000688158.2:n.1878C>T
ENST00000688922.2:c.*973C>T	ENSP00000508742.2:n.*973C>T
ENST00000700021.1:c.1098C>T	ENSP00000514757.1:p.Asp366=
ENST00000700022.1:c.*482C>T	ENSP00000514758.1:n.*482C>T
ENST00000700023.1:n.2301C>T
ENST00000700024.1:n.2535C>T
ENST00000706954.1:c.1143C>T	ENSP00000516674.1:p.Asp381=
ENST00000706955.1:c.*1178C>T	ENSP00000516675.1:n.*1178C>T
ENST00000686459.1:c.*729C>T	ENSP00000508909.1:n.*729C>T
ENST00000688158.1:c.*1254C>T	ENSP00000509254.1:n.*1254C>T
ENST00000688308.1:c.1143C>T	ENSP00000508752.1:p.Asp381=
ENST00000688922.1:c.1064C>T
ENST00000693560.1:c.1662C>T	ENSP00000509861.1:p.Asp554=
ENST00000371953.8:c.1143C>T MANE Select	ENSP00000361021.3:p.Asp381=
ENST00000371953.7:c.1143C>T	ENSP00000361021.3:p.Asp381=
NM_000314.5:c.1143C>T	NP_000305.3:p.Asp381=
NM_000314.6:c.1143C>T	NP_000305.3:p.Asp381=
NM_001304717.2:c.1662C>T	NP_001291646.2:p.Asp554=
NM_001304718.1:c.552C>T	NP_001291647.1:p.Asp184=
XM_006717926.2:c.1098C>T	XP_006717989.1:p.Asp366=
XM_011539982.1:c.1047C>T	XP_011538284.1:p.Asp349=
XR_945791.1:n.1713C>T
NM_000314.7:c.1143C>T	NP_000305.3:p.Asp381=
NM_001304717.5:c.1662C>T	NP_001291646.4:p.Asp554=
NM_001304718.2:c.552C>T	NP_001291647.1:p.Asp184=
NM_000314.8:c.1143C>T MANE Select	NP_000305.3:p.Asp381=