Canonical Allele Identifier: CA10577425

Gene: PTEN

Linked Data

• ClinVar Variation Id: 234861
• ClinVar RCV Id: RCV000221425 ; RCV000231001 ; RCV000573110 ; RCV000663026
• dbSNP Id: rs876661264
• gnomAD v2: 10-89725086-C-A
• gnomAD v4: 10-87965329-C-A
• MyVariant Identifiers: chr10:g.89725086C>A (hg19) ; chr10:g.87965329C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965329C>A , CM000672.2:g.87965329C>A	GRCh38
NC_000010.10:g.89725086C>A , CM000672.1:g.89725086C>A	GRCh37
NC_000010.9:g.89715066C>A	NCBI36
NG_007466.2:g.106891C>A , LRG_311:g.106891C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1162C>A	ENSP00000514759.2:p.Pro388Thr
ENST00000710265.1:c.*98C>A	ENSP00000518161.1:n.*98C>A
ENST00000688158.2:n.1804C>A
ENST00000688922.2:c.*899C>A	ENSP00000508742.2:n.*899C>A
ENST00000700021.1:c.1024C>A	ENSP00000514757.1:p.Pro342Thr
ENST00000700022.1:c.*408C>A	ENSP00000514758.1:n.*408C>A
ENST00000700023.1:n.2227C>A
ENST00000700024.1:n.2461C>A
ENST00000706954.1:c.1069C>A	ENSP00000516674.1:p.Pro357Thr
ENST00000706955.1:c.*1104C>A	ENSP00000516675.1:n.*1104C>A
ENST00000686459.1:c.*655C>A	ENSP00000508909.1:n.*655C>A
ENST00000688158.1:c.*1180C>A	ENSP00000509254.1:n.*1180C>A
ENST00000688308.1:c.1069C>A	ENSP00000508752.1:p.Pro357Thr
ENST00000688922.1:c.990C>A
ENST00000693560.1:c.1588C>A	ENSP00000509861.1:p.Pro530Thr
ENST00000371953.8:c.1069C>A MANE Select	ENSP00000361021.3:p.Pro357Thr
ENST00000371953.7:c.1069C>A	ENSP00000361021.3:p.Pro357Thr
NM_000314.5:c.1069C>A	NP_000305.3:p.Pro357Thr
NM_000314.6:c.1069C>A	NP_000305.3:p.Pro357Thr
NM_001304717.2:c.1588C>A	NP_001291646.2:p.Pro530Thr
NM_001304718.1:c.478C>A	NP_001291647.1:p.Pro160Thr
XM_006717926.2:c.1024C>A	XP_006717989.1:p.Pro342Thr
XM_011539982.1:c.973C>A	XP_011538284.1:p.Pro325Thr
XR_945791.1:n.1639C>A
NM_000314.7:c.1069C>A	NP_000305.3:p.Pro357Thr
NM_001304717.5:c.1588C>A	NP_001291646.4:p.Pro530Thr
NM_001304718.2:c.478C>A	NP_001291647.1:p.Pro160Thr
NM_000314.8:c.1069C>A MANE Select	NP_000305.3:p.Pro357Thr