Canonical Allele Identifier: CA10582763

Gene: PTEN

Linked Data

• ClinVar Variation Id: 237652
• ClinVar RCV Id: RCV000231347
• dbSNP Id: rs878853943
• gnomAD v4: 10-87957882-G-T
• MyVariant Identifiers: chr10:g.89717639G>T (hg19) ; chr10:g.87957882G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957882G>T , CM000672.2:g.87957882G>T	GRCh38
NC_000010.10:g.89717639G>T , CM000672.1:g.89717639G>T	GRCh37
NC_000010.9:g.89707619G>T	NCBI36
NG_007466.2:g.99444G>T , LRG_311:g.99444G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.664G>T	ENSP00000514759.2:p.Val222Leu
ENST00000710265.1:c.664G>T	ENSP00000518161.1:p.Val222Leu
ENST00000472832.3:c.664G>T	ENSP00000483066.2:p.Val222Leu
ENST00000688158.2:n.1399G>T
ENST00000688922.2:c.*494G>T	ENSP00000508742.2:n.*494G>T
ENST00000700021.1:c.619G>T	ENSP00000514757.1:p.Val207Leu
ENST00000700022.1:c.*3G>T	ENSP00000514758.1:n.*3G>T
ENST00000700023.1:n.1822G>T
ENST00000700024.1:n.2056G>T
ENST00000700025.1:n.1433G>T
ENST00000700026.1:n.301G>T
ENST00000700029.1:c.498G>T
ENST00000706954.1:c.664G>T	ENSP00000516674.1:p.Val222Leu
ENST00000706955.1:c.*699G>T	ENSP00000516675.1:n.*699G>T
ENST00000686459.1:c.*250G>T	ENSP00000508909.1:n.*250G>T
ENST00000688158.1:c.*775G>T	ENSP00000509254.1:n.*775G>T
ENST00000688308.1:c.664G>T	ENSP00000508752.1:p.Val222Leu
ENST00000688922.1:c.585G>T
ENST00000693560.1:c.1183G>T	ENSP00000509861.1:p.Val395Leu
ENST00000371953.8:c.664G>T MANE Select	ENSP00000361021.3:p.Val222Leu
ENST00000371953.7:c.664G>T	ENSP00000361021.3:p.Val222Leu
ENST00000472832.2:c.91G>T	ENSP00000483066.1:p.Val31Leu
NM_000314.5:c.664G>T	NP_000305.3:p.Val222Leu
NM_000314.6:c.664G>T	NP_000305.3:p.Val222Leu
NM_001304717.2:c.1183G>T	NP_001291646.2:p.Val395Leu
NM_001304718.1:c.73G>T	NP_001291647.1:p.Val25Leu
XM_006717926.2:c.619G>T	XP_006717989.1:p.Val207Leu
XM_011539981.1:c.664G>T	XP_011538283.1:p.Val222Leu
XM_011539982.1:c.568G>T	XP_011538284.1:p.Val190Leu
XR_945791.1:n.1234G>T
NM_000314.7:c.664G>T	NP_000305.3:p.Val222Leu
NM_001304717.5:c.1183G>T	NP_001291646.4:p.Val395Leu
NM_001304718.2:c.73G>T	NP_001291647.1:p.Val25Leu
NM_000314.8:c.664G>T MANE Select	NP_000305.3:p.Val222Leu