Canonical Allele Identifier: CA059783

Gene: PTEN

Linked Data

• ClinVar Variation Id: 877732
• ClinVar RCV Id: RCV001103720
• dbSNP Id: rs748897412
• ExAC: 10:89725256 C / A
• gnomAD v2: 10-89725256-C-A
• gnomAD v3: 10-87965499-C-A
• gnomAD v4: 10-87965499-C-A
• MyVariant Identifiers: chr10:g.89725256C>A (hg19) ; chr10:g.87965499C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965499C>A , CM000672.2:g.87965499C>A	GRCh38
NC_000010.10:g.89725256C>A , CM000672.1:g.89725256C>A	GRCh37
NC_000010.9:g.89715236C>A	NCBI36
NG_007466.2:g.107061C>A , LRG_311:g.107061C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.*27C>A	ENSP00000514759.2:n.*27C>A
ENST00000710265.1:c.*268C>A	ENSP00000518161.1:n.*268C>A
ENST00000688158.2:n.1974C>A
ENST00000688922.2:c.*1069C>A	ENSP00000508742.2:n.*1069C>A
ENST00000700021.1:c.*27C>A	ENSP00000514757.1:n.*27C>A
ENST00000700022.1:c.*578C>A	ENSP00000514758.1:n.*578C>A
ENST00000700023.1:n.2397C>A
ENST00000700024.1:n.2631C>A
ENST00000706954.1:c.*27C>A	ENSP00000516674.1:n.*27C>A
ENST00000706955.1:c.*1274C>A	ENSP00000516675.1:n.*1274C>A
ENST00000686459.1:c.*825C>A	ENSP00000508909.1:n.*825C>A
ENST00000688158.1:c.*1350C>A	ENSP00000509254.1:n.*1350C>A
ENST00000688308.1:c.*27C>A	ENSP00000508752.1:n.*27C>A
ENST00000688922.1:c.1160C>A
ENST00000693560.1:c.*27C>A	ENSP00000509861.1:n.*27C>A
ENST00000371953.8:c.*27C>A MANE Select	ENSP00000361021.3:n.*27C>A
ENST00000371953.7:c.*27C>A	ENSP00000361021.3:n.*27C>A
NM_000314.5:c.*27C>A	NP_000305.3:n.*27C>A
NM_000314.6:c.*27C>A	NP_000305.3:n.*27C>A
NM_001304717.2:c.*27C>A	NP_001291646.2:n.*27C>A
NM_001304718.1:c.*27C>A	NP_001291647.1:n.*27C>A
XM_006717926.2:c.*27C>A	XP_006717989.1:n.*27C>A
XM_011539982.1:c.*27C>A	XP_011538284.1:n.*27C>A
XR_945791.1:n.1809C>A
NM_000314.7:c.*27C>A	NP_000305.3:n.*27C>A
NM_001304717.5:c.*27C>A	NP_001291646.4:n.*27C>A
NM_001304718.2:c.*27C>A	NP_001291647.1:n.*27C>A
NM_000314.8:c.*27C>A MANE Select	NP_000305.3:n.*27C>A