Canonical Allele Identifier: CA211258493

Gene: PTEN

Linked Data

• dbSNP Id: rs995595037
• gnomAD v2: 10-89724901-T-A
• gnomAD v3: 10-87965144-T-A
• gnomAD v4: 10-87965144-T-A
• MyVariant Identifiers: chr10:g.89724901T>A (hg19) ; chr10:g.87965144T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965144T>A , CM000672.2:g.87965144T>A	GRCh38
NC_000010.10:g.89724901T>A , CM000672.1:g.89724901T>A	GRCh37
NC_000010.9:g.89714881T>A	NCBI36
NG_007466.2:g.106706T>A , LRG_311:g.106706T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1120-143T>A	ENSP00000514759.2:n.1120-143T>A
ENST00000710265.1:c.*56-143T>A	ENSP00000518161.1:n.*56-143T>A
ENST00000688158.2:n.1762-143T>A
ENST00000688922.2:c.*857-143T>A	ENSP00000508742.2:n.*857-143T>A
ENST00000700021.1:c.982-143T>A	ENSP00000514757.1:n.982-143T>A
ENST00000700022.1:c.*366-143T>A	ENSP00000514758.1:n.*366-143T>A
ENST00000700023.1:n.2185-143T>A
ENST00000700024.1:n.2419-143T>A
ENST00000706954.1:c.1027-143T>A	ENSP00000516674.1:n.1027-143T>A
ENST00000706955.1:c.*1062-143T>A	ENSP00000516675.1:n.*1062-143T>A
ENST00000686459.1:c.*613-143T>A	ENSP00000508909.1:n.*613-143T>A
ENST00000688158.1:c.*1138-143T>A	ENSP00000509254.1:n.*1138-143T>A
ENST00000688308.1:c.1027-143T>A	ENSP00000508752.1:n.1027-143T>A
ENST00000688922.1:c.948-143T>A
ENST00000693560.1:c.1546-143T>A	ENSP00000509861.1:n.1546-143T>A
ENST00000371953.8:c.1027-143T>A MANE Select	ENSP00000361021.3:n.1027-143T>A
ENST00000371953.7:c.1027-143T>A	ENSP00000361021.3:n.1027-143T>A
NM_000314.5:c.1027-143T>A	NP_000305.3:n.1027-143T>A
NM_000314.6:c.1027-143T>A	NP_000305.3:n.1027-143T>A
NM_001304717.2:c.1546-143T>A	NP_001291646.2:n.1546-143T>A
NM_001304718.1:c.436-143T>A	NP_001291647.1:n.436-143T>A
XM_006717926.2:c.982-143T>A	XP_006717989.1:n.982-143T>A
XM_011539982.1:c.931-143T>A	XP_011538284.1:n.931-143T>A
XR_945791.1:n.1597-143T>A
NM_000314.7:c.1027-143T>A	NP_000305.3:n.1027-143T>A
NM_001304717.5:c.1546-143T>A	NP_001291646.4:n.1546-143T>A
NM_001304718.2:c.436-143T>A	NP_001291647.1:n.436-143T>A
NM_000314.8:c.1027-143T>A MANE Select	NP_000305.3:n.1027-143T>A