Canonical Allele Identifier: CA060840

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1317087
• ClinVar RCV Id: RCV002540657
• dbSNP Id: rs761350690
• ExAC: 10:89720805 C / T
• gnomAD v2: 10-89720805-C-T
• gnomAD v4: 10-87961048-C-T
• MyVariant Identifiers: chr10:g.89720805C>T (hg19) ; chr10:g.87961048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961048C>T , CM000672.2:g.87961048C>T	GRCh38
NC_000010.10:g.89720805C>T , CM000672.1:g.89720805C>T	GRCh37
NC_000010.9:g.89710785C>T	NCBI36
NG_007466.2:g.102610C>T , LRG_311:g.102610C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1049C>T	ENSP00000514759.2:p.Thr350Ile
ENST00000710265.1:c.956C>T	ENSP00000518161.1:p.Thr319Ile
ENST00000472832.3:c.956C>T	ENSP00000483066.2:p.Thr319Ile
ENST00000688158.2:n.1691C>T
ENST00000688922.2:c.*786C>T	ENSP00000508742.2:n.*786C>T
ENST00000700021.1:c.911C>T	ENSP00000514757.1:p.Thr304Ile
ENST00000700022.1:c.*295C>T	ENSP00000514758.1:n.*295C>T
ENST00000700023.1:n.2114C>T
ENST00000700024.1:n.2348C>T
ENST00000700025.1:n.1725C>T
ENST00000700026.1:n.593C>T
ENST00000706954.1:c.956C>T	ENSP00000516674.1:p.Thr319Ile
ENST00000706955.1:c.*991C>T	ENSP00000516675.1:n.*991C>T
ENST00000686459.1:c.*542C>T	ENSP00000508909.1:n.*542C>T
ENST00000688158.1:c.*1067C>T	ENSP00000509254.1:n.*1067C>T
ENST00000688308.1:c.956C>T	ENSP00000508752.1:p.Thr319Ile
ENST00000688922.1:c.877C>T
ENST00000693560.1:c.1475C>T	ENSP00000509861.1:p.Thr492Ile
ENST00000371953.8:c.956C>T MANE Select	ENSP00000361021.3:p.Thr319Ile
ENST00000371953.7:c.956C>T	ENSP00000361021.3:p.Thr319Ile
ENST00000472832.2:c.383C>T	ENSP00000483066.1:p.Thr128Ile
NM_000314.5:c.956C>T	NP_000305.3:p.Thr319Ile
NM_000314.6:c.956C>T	NP_000305.3:p.Thr319Ile
NM_001304717.2:c.1475C>T	NP_001291646.2:p.Thr492Ile
NM_001304718.1:c.365C>T	NP_001291647.1:p.Thr122Ile
XM_006717926.2:c.911C>T	XP_006717989.1:p.Thr304Ile
XM_011539981.1:c.956C>T	XP_011538283.1:p.Thr319Ile
XM_011539982.1:c.860C>T	XP_011538284.1:p.Thr287Ile
XR_945791.1:n.1526C>T
NM_000314.7:c.956C>T	NP_000305.3:p.Thr319Ile
NM_001304717.5:c.1475C>T	NP_001291646.4:p.Thr492Ile
NM_001304718.2:c.365C>T	NP_001291647.1:p.Thr122Ile
NM_000314.8:c.956C>T MANE Select	NP_000305.3:p.Thr319Ile