Canonical Allele Identifier: CA470671572

Gene: PTEN

Linked Data

• ClinVar Variation Id: 484612
• ClinVar RCV Id: RCV000562586
• dbSNP Id: rs1554826062
• MyVariant Identifiers: chr10:g.89725190T>G (hg19) ; chr10:g.87965433T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965433T>G , CM000672.2:g.87965433T>G	GRCh38
NC_000010.10:g.89725190T>G , CM000672.1:g.89725190T>G	GRCh37
NC_000010.9:g.89715170T>G	NCBI36
NG_007466.2:g.106995T>G , LRG_311:g.106995T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1266T>G	ENSP00000514759.2:p.Pro422=
ENST00000710265.1:c.*202T>G	ENSP00000518161.1:n.*202T>G
ENST00000688158.2:n.1908T>G
ENST00000688922.2:c.*1003T>G	ENSP00000508742.2:n.*1003T>G
ENST00000700021.1:c.1128T>G	ENSP00000514757.1:p.Pro376=
ENST00000700022.1:c.*512T>G	ENSP00000514758.1:n.*512T>G
ENST00000700023.1:n.2331T>G
ENST00000700024.1:n.2565T>G
ENST00000706954.1:c.1173T>G	ENSP00000516674.1:p.Pro391=
ENST00000706955.1:c.*1208T>G	ENSP00000516675.1:n.*1208T>G
ENST00000686459.1:c.*759T>G	ENSP00000508909.1:n.*759T>G
ENST00000688158.1:c.*1284T>G	ENSP00000509254.1:n.*1284T>G
ENST00000688308.1:c.1173T>G	ENSP00000508752.1:p.Pro391=
ENST00000688922.1:c.1094T>G
ENST00000693560.1:c.1692T>G	ENSP00000509861.1:p.Pro564=
ENST00000371953.8:c.1173T>G MANE Select	ENSP00000361021.3:p.Pro391=
ENST00000371953.7:c.1173T>G	ENSP00000361021.3:p.Pro391=
NM_000314.5:c.1173T>G	NP_000305.3:p.Pro391=
NM_000314.6:c.1173T>G	NP_000305.3:p.Pro391=
NM_001304717.2:c.1692T>G	NP_001291646.2:p.Pro564=
NM_001304718.1:c.582T>G	NP_001291647.1:p.Pro194=
XM_006717926.2:c.1128T>G	XP_006717989.1:p.Pro376=
XM_011539982.1:c.1077T>G	XP_011538284.1:p.Pro359=
XR_945791.1:n.1743T>G
NM_000314.7:c.1173T>G	NP_000305.3:p.Pro391=
NM_001304717.5:c.1692T>G	NP_001291646.4:p.Pro564=
NM_001304718.2:c.582T>G	NP_001291647.1:p.Pro194=
NM_000314.8:c.1173T>G MANE Select	NP_000305.3:p.Pro391=