Canonical Allele Identifier: CA377484617

Gene: PTEN

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952230C>T , CM000672.2:g.87952230C>T	GRCh38
NC_000010.10:g.89711987C>T , CM000672.1:g.89711987C>T	GRCh37
NC_000010.9:g.89701967C>T	NCBI36
NG_007466.2:g.93792C>T , LRG_311:g.93792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.605C>T	ENSP00000514759.2:p.Thr202Ile
ENST00000710265.1:c.605C>T	ENSP00000518161.1:p.Thr202Ile
ENST00000472832.3:c.605C>T	ENSP00000483066.2:p.Thr202Ile
ENST00000688158.2:n.1340C>T
ENST00000688922.2:c.*435C>T	ENSP00000508742.2:n.*435C>T
ENST00000700021.1:c.560C>T	ENSP00000514757.1:p.Thr187Ile
ENST00000700022.1:c.493-5623C>T	ENSP00000514758.1:n.493-5623C>T
ENST00000700023.1:n.1763C>T
ENST00000700024.1:n.1997C>T
ENST00000700025.1:n.1374C>T
ENST00000700029.1:c.439C>T
ENST00000706954.1:c.605C>T	ENSP00000516674.1:p.Thr202Ile
ENST00000706955.1:c.*640C>T	ENSP00000516675.1:n.*640C>T
ENST00000686459.1:c.*191C>T	ENSP00000508909.1:n.*191C>T
ENST00000688158.1:c.*716C>T	ENSP00000509254.1:n.*716C>T
ENST00000688308.1:c.605C>T	ENSP00000508752.1:p.Thr202Ile
ENST00000688922.1:c.526C>T
ENST00000693560.1:c.1124C>T	ENSP00000509861.1:p.Thr375Ile
ENST00000371953.8:c.605C>T MANE Select	ENSP00000361021.3:p.Thr202Ile
ENST00000371953.7:c.605C>T	ENSP00000361021.3:p.Thr202Ile
ENST00000472832.2:c.32C>T	ENSP00000483066.1:p.Thr11Ile
NM_000314.5:c.605C>T	NP_000305.3:p.Thr202Ile
NM_000314.6:c.605C>T	NP_000305.3:p.Thr202Ile
NM_001304717.2:c.1124C>T	NP_001291646.2:p.Thr375Ile
NM_001304718.1:c.14C>T	NP_001291647.1:p.Thr5Ile
XM_006717926.2:c.560C>T	XP_006717989.1:p.Thr187Ile
XM_011539981.1:c.605C>T	XP_011538283.1:p.Thr202Ile
XM_011539982.1:c.509C>T	XP_011538284.1:p.Thr170Ile
XR_945791.1:n.1205-5623C>T
NM_000314.7:c.605C>T	NP_000305.3:p.Thr202Ile
NM_001304717.5:c.1124C>T	NP_001291646.4:p.Thr375Ile
NM_001304718.2:c.14C>T	NP_001291647.1:p.Thr5Ile
NM_000314.8:c.605C>T MANE Select	NP_000305.3:p.Thr202Ile