Canonical Allele Identifier: CA930918529

Gene: PTEN

Linked Data

• dbSNP Id: rs1859963198
• gnomAD v3: 10-87932992-G-T
• gnomAD v4: 10-87932992-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87932992G>T , CM000672.2:g.87932992G>T	GRCh38
NC_000010.10:g.89692749G>T , CM000672.1:g.89692749G>T	GRCh37
NC_000010.9:g.89682729G>T	NCBI36
NG_007466.2:g.74554G>T , LRG_311:g.74554G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.254-21G>T	ENSP00000514759.2:n.254-21G>T
ENST00000710265.1:c.254-21G>T	ENSP00000518161.1:n.254-21G>T
ENST00000472832.3:c.254-21G>T	ENSP00000483066.2:n.254-21G>T
ENST00000688158.2:n.989-21G>T
ENST00000688922.2:c.*84-21G>T	ENSP00000508742.2:n.*84-21G>T
ENST00000700021.1:c.209-21G>T	ENSP00000514757.1:n.209-21G>T
ENST00000700022.1:c.254-21G>T	ENSP00000514758.1:n.254-21G>T
ENST00000700029.1:c.88-21G>T
ENST00000706954.1:c.254-21G>T	ENSP00000516674.1:n.254-21G>T
ENST00000706955.1:c.*289-21G>T	ENSP00000516675.1:n.*289-21G>T
ENST00000686459.1:c.254-21G>T	ENSP00000508909.1:n.254-21G>T
ENST00000688158.1:c.*365-21G>T	ENSP00000509254.1:n.*365-21G>T
ENST00000688308.1:c.254-21G>T	ENSP00000508752.1:n.254-21G>T
ENST00000688922.1:c.175-21G>T
ENST00000693560.1:c.773-21G>T	ENSP00000509861.1:n.773-21G>T
ENST00000371953.8:c.254-21G>T MANE Select	ENSP00000361021.3:n.254-21G>T
ENST00000371953.7:c.254-21G>T	ENSP00000361021.3:n.254-21G>T
ENST00000498703.1:n.80-21G>T
ENST00000610634.1:c.152-21G>T	ENSP00000477517.1:n.152-21G>T
NM_000314.5:c.254-21G>T	NP_000305.3:n.254-21G>T
NM_000314.6:c.254-21G>T	NP_000305.3:n.254-21G>T
NM_001304717.2:c.773-21G>T	NP_001291646.2:n.773-21G>T
NM_001304718.1:c.-497-21G>T	NP_001291647.1:n.-497-21G>T
XM_006717926.2:c.209-21G>T	XP_006717989.1:n.209-21G>T
XM_011539981.1:c.254-21G>T	XP_011538283.1:n.254-21G>T
XM_011539982.1:c.158-21G>T	XP_011538284.1:n.158-21G>T
XR_945789.1:n.966-21G>T
XR_945790.1:n.966-21G>T
XR_945791.1:n.966-21G>T
NM_000314.7:c.254-21G>T	NP_000305.3:n.254-21G>T
NM_001304717.5:c.773-21G>T	NP_001291646.4:n.773-21G>T
NM_001304718.2:c.-497-21G>T	NP_001291647.1:n.-497-21G>T
NM_000314.8:c.254-21G>T MANE Select	NP_000305.3:n.254-21G>T