Canonical Allele Identifier: CA377487495

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1401113
• ClinVar RCV Id: RCV001896856
• dbSNP Id: rs2132290414
• MyVariant Identifiers: chr10:g.89725224G>A (hg19) ; chr10:g.87965467G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965467G>A , CM000672.2:g.87965467G>A	GRCh38
NC_000010.10:g.89725224G>A , CM000672.1:g.89725224G>A	GRCh37
NC_000010.9:g.89715204G>A	NCBI36
NG_007466.2:g.107029G>A , LRG_311:g.107029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1300G>A	ENSP00000514759.2:p.Val434Ile
ENST00000710265.1:c.*236G>A	ENSP00000518161.1:n.*236G>A
ENST00000688158.2:n.1942G>A
ENST00000688922.2:c.*1037G>A	ENSP00000508742.2:n.*1037G>A
ENST00000700021.1:c.1162G>A	ENSP00000514757.1:p.Val388Ile
ENST00000700022.1:c.*546G>A	ENSP00000514758.1:n.*546G>A
ENST00000700023.1:n.2365G>A
ENST00000700024.1:n.2599G>A
ENST00000706954.1:c.1207G>A	ENSP00000516674.1:p.Val403Ile
ENST00000706955.1:c.*1242G>A	ENSP00000516675.1:n.*1242G>A
ENST00000686459.1:c.*793G>A	ENSP00000508909.1:n.*793G>A
ENST00000688158.1:c.*1318G>A	ENSP00000509254.1:n.*1318G>A
ENST00000688308.1:c.1207G>A	ENSP00000508752.1:p.Val403Ile
ENST00000688922.1:c.1128G>A
ENST00000693560.1:c.1726G>A	ENSP00000509861.1:p.Val576Ile
ENST00000371953.8:c.1207G>A MANE Select	ENSP00000361021.3:p.Val403Ile
ENST00000371953.7:c.1207G>A	ENSP00000361021.3:p.Val403Ile
NM_000314.5:c.1207G>A	NP_000305.3:p.Val403Ile
NM_000314.6:c.1207G>A	NP_000305.3:p.Val403Ile
NM_001304717.2:c.1726G>A	NP_001291646.2:p.Val576Ile
NM_001304718.1:c.616G>A	NP_001291647.1:p.Val206Ile
XM_006717926.2:c.1162G>A	XP_006717989.1:p.Val388Ile
XM_011539982.1:c.1111G>A	XP_011538284.1:p.Val371Ile
XR_945791.1:n.1777G>A
NM_000314.7:c.1207G>A	NP_000305.3:p.Val403Ile
NM_001304717.5:c.1726G>A	NP_001291646.4:p.Val576Ile
NM_001304718.2:c.616G>A	NP_001291647.1:p.Val206Ile
NM_000314.8:c.1207G>A MANE Select	NP_000305.3:p.Val403Ile