Canonical Allele Identifier: CA000181

Gene: PTEN

Linked Data

• ClinVar Variation Id: 184205
• ClinVar RCV Id: RCV000163400 ; RCV001429998 ; RCV003315994
• dbSNP Id: rs786201335
• gnomAD v4: 10-87864535-C-T
• MyVariant Identifiers: chr10:g.89624292C>T (hg19) ; chr10:g.87864535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87864535C>T , CM000672.2:g.87864535C>T	GRCh38
NC_000010.10:g.89624292C>T , CM000672.1:g.89624292C>T	GRCh37
NC_000010.9:g.89614272C>T	NCBI36
NG_007466.2:g.6097C>T , LRG_311:g.6097C>T
NG_033079.1:g.3903G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.66C>T	ENSP00000514759.2:p.Asp22=
ENST00000710265.1:c.66C>T	ENSP00000518161.1:p.Asp22=
ENST00000472832.3:c.66C>T	ENSP00000483066.2:p.Asp22=
ENST00000688922.2:c.66C>T	ENSP00000508742.2:p.Asp22=
ENST00000700021.1:c.66C>T	ENSP00000514757.1:p.Asp22=
ENST00000700022.1:c.66C>T	ENSP00000514758.1:p.Asp22=
ENST00000706954.1:c.66C>T	ENSP00000516674.1:p.Asp22=
ENST00000706955.1:c.66C>T	ENSP00000516675.1:p.Asp22=
ENST00000686459.1:c.66C>T	ENSP00000508909.1:p.Asp22=
ENST00000688158.1:c.66C>T	ENSP00000509254.1:p.Asp22=
ENST00000688308.1:c.66C>T	ENSP00000508752.1:p.Asp22=
ENST00000693560.1:c.585C>T	ENSP00000509861.1:p.Asp195=
ENST00000371953.8:c.66C>T MANE Select	ENSP00000361021.3:p.Asp22=
ENST00000371953.7:c.66C>T	ENSP00000361021.3:p.Asp22=
ENST00000462694.1:n.68C>T
ENST00000487939.1:n.87C>T
ENST00000610634.1:c.-37C>T	ENSP00000477517.1:n.-37C>T
ENST00000618586.1:n.35C>T
NM_000314.5:c.66C>T	NP_000305.3:p.Asp22=
NM_000314.6:c.66C>T	NP_000305.3:p.Asp22=
NM_001304717.2:c.585C>T	NP_001291646.2:p.Asp195=
NM_001304718.1:c.-640C>T	NP_001291647.1:n.-640C>T
XM_006717926.2:c.66C>T	XP_006717989.1:p.Asp22=
XM_011539981.1:c.66C>T	XP_011538283.1:p.Asp22=
XR_945789.1:n.778C>T
XR_945790.1:n.778C>T
XR_945791.1:n.778C>T
NM_000314.7:c.66C>T	NP_000305.3:p.Asp22=
NM_001304717.5:c.585C>T	NP_001291646.4:p.Asp195=
NM_001304718.2:c.-640C>T	NP_001291647.1:n.-640C>T
NM_000314.8:c.66C>T MANE Select	NP_000305.3:p.Asp22=