Canonical Allele Identifier: CA930910529

Gene: PTEN

Linked Data

• dbSNP Id: rs2132292885
• gnomAD v3: 10-87966885-G-T
• gnomAD v4: 10-87966885-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87966885G>T , CM000672.2:g.87966885G>T	GRCh38
NC_000010.10:g.89726642G>T , CM000672.1:g.89726642G>T	GRCh37
NC_000010.9:g.89716622G>T	NCBI36
NG_007466.2:g.108447G>T , LRG_311:g.108447G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.*1413G>T	ENSP00000514759.2:n.*1413G>T
ENST00000710265.1:c.*1654G>T	ENSP00000518161.1:n.*1654G>T
ENST00000688158.2:n.3360G>T
ENST00000688922.2:c.*2455G>T	ENSP00000508742.2:n.*2455G>T
ENST00000700021.1:c.*1413G>T	ENSP00000514757.1:n.*1413G>T
ENST00000706954.1:c.*1413G>T	ENSP00000516674.1:n.*1413G>T
ENST00000706955.1:c.*2660G>T	ENSP00000516675.1:n.*2660G>T
ENST00000688158.1:c.*2736G>T	ENSP00000509254.1:n.*2736G>T
ENST00000688308.1:c.*1413G>T	ENSP00000508752.1:n.*1413G>T
ENST00000688922.1:c.2546G>T
ENST00000693560.1:c.*1413G>T	ENSP00000509861.1:n.*1413G>T
ENST00000371953.8:c.*1413G>T MANE Select	ENSP00000361021.3:n.*1413G>T
ENST00000371953.7:c.*1413G>T	ENSP00000361021.3:n.*1413G>T
NM_000314.5:c.*1413G>T	NP_000305.3:n.*1413G>T
NM_000314.6:c.*1413G>T	NP_000305.3:n.*1413G>T
NM_001304717.2:c.*1413G>T	NP_001291646.2:n.*1413G>T
NM_001304718.1:c.*1413G>T	NP_001291647.1:n.*1413G>T
XM_006717926.2:c.*1413G>T	XP_006717989.1:n.*1413G>T
XM_011539982.1:c.*1413G>T	XP_011538284.1:n.*1413G>T
XR_945791.1:n.3195G>T
NM_000314.7:c.*1413G>T	NP_000305.3:n.*1413G>T
NM_001304717.5:c.*1413G>T	NP_001291646.4:n.*1413G>T
NM_001304718.2:c.*1413G>T	NP_001291647.1:n.*1413G>T
NM_000314.8:c.*1413G>T MANE Select	NP_000305.3:n.*1413G>T