Canonical Allele Identifier: CA000403

Gene: PTEN

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933094T>C , CM000672.2:g.87933094T>C	GRCh38
NC_000010.10:g.89692851T>C , CM000672.1:g.89692851T>C	GRCh37
NC_000010.9:g.89682831T>C	NCBI36
NG_007466.2:g.74656T>C , LRG_311:g.74656T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.335T>C	ENSP00000514759.2:p.Leu112Pro
ENST00000710265.1:c.335T>C	ENSP00000518161.1:p.Leu112Pro
ENST00000472832.3:c.335T>C	ENSP00000483066.2:p.Leu112Pro
ENST00000688158.2:n.1070T>C
ENST00000688922.2:c.*165T>C	ENSP00000508742.2:n.*165T>C
ENST00000700021.1:c.290T>C	ENSP00000514757.1:p.Leu97Pro
ENST00000700022.1:c.335T>C	ENSP00000514758.1:p.Leu112Pro
ENST00000700029.1:c.169T>C
ENST00000706954.1:c.335T>C	ENSP00000516674.1:p.Leu112Pro
ENST00000706955.1:c.*370T>C	ENSP00000516675.1:n.*370T>C
ENST00000686459.1:c.335T>C	ENSP00000508909.1:p.Leu112Pro
ENST00000688158.1:c.*446T>C	ENSP00000509254.1:n.*446T>C
ENST00000688308.1:c.335T>C	ENSP00000508752.1:p.Leu112Pro
ENST00000688922.1:c.256T>C
ENST00000693560.1:c.854T>C	ENSP00000509861.1:p.Leu285Pro
ENST00000371953.8:c.335T>C MANE Select	ENSP00000361021.3:p.Leu112Pro
ENST00000371953.7:c.335T>C	ENSP00000361021.3:p.Leu112Pro
ENST00000498703.1:n.161T>C
ENST00000610634.1:c.233T>C	ENSP00000477517.1:p.Leu78Pro
NM_000314.5:c.335T>C	NP_000305.3:p.Leu112Pro
NM_000314.6:c.335T>C	NP_000305.3:p.Leu112Pro
NM_001304717.2:c.854T>C	NP_001291646.2:p.Leu285Pro
NM_001304718.1:c.-416T>C	NP_001291647.1:n.-416T>C
XM_006717926.2:c.290T>C	XP_006717989.1:p.Leu97Pro
XM_011539981.1:c.335T>C	XP_011538283.1:p.Leu112Pro
XM_011539982.1:c.239T>C	XP_011538284.1:p.Leu80Pro
XR_945789.1:n.1047T>C
XR_945790.1:n.1047T>C
XR_945791.1:n.1047T>C
NM_000314.7:c.335T>C	NP_000305.3:p.Leu112Pro
NM_001304717.5:c.854T>C	NP_001291646.4:p.Leu285Pro
NM_001304718.2:c.-416T>C	NP_001291647.1:n.-416T>C
NM_000314.8:c.335T>C MANE Select	NP_000305.3:p.Leu112Pro