Canonical Allele Identifier: CA470973999

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1766404
• ClinVar RCV Id: RCV002371445 ; RCV003509743
• MyVariant Identifiers: chr10:g.89720776A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961019A>G , CM000672.2:g.87961019A>G	GRCh38
NC_000010.10:g.89720776A>G , CM000672.1:g.89720776A>G	GRCh37
NC_000010.9:g.89710756A>G	NCBI36
NG_007466.2:g.102581A>G , LRG_311:g.102581A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1020A>G	ENSP00000514759.2:p.Ala340=
ENST00000710265.1:c.927A>G	ENSP00000518161.1:p.Ala309=
ENST00000472832.3:c.927A>G	ENSP00000483066.2:p.Ala309=
ENST00000688158.2:n.1662A>G
ENST00000688922.2:c.*757A>G	ENSP00000508742.2:n.*757A>G
ENST00000700021.1:c.882A>G	ENSP00000514757.1:p.Ala294=
ENST00000700022.1:c.*266A>G	ENSP00000514758.1:n.*266A>G
ENST00000700023.1:n.2085A>G
ENST00000700024.1:n.2319A>G
ENST00000700025.1:n.1696A>G
ENST00000700026.1:n.564A>G
ENST00000706954.1:c.927A>G	ENSP00000516674.1:p.Ala309=
ENST00000706955.1:c.*962A>G	ENSP00000516675.1:n.*962A>G
ENST00000686459.1:c.*513A>G	ENSP00000508909.1:n.*513A>G
ENST00000688158.1:c.*1038A>G	ENSP00000509254.1:n.*1038A>G
ENST00000688308.1:c.927A>G	ENSP00000508752.1:p.Ala309=
ENST00000688922.1:c.848A>G
ENST00000693560.1:c.1446A>G	ENSP00000509861.1:p.Ala482=
ENST00000371953.8:c.927A>G MANE Select	ENSP00000361021.3:p.Ala309=
ENST00000371953.7:c.927A>G	ENSP00000361021.3:p.Ala309=
ENST00000472832.2:c.354A>G	ENSP00000483066.1:p.Ala118=
NM_000314.5:c.927A>G	NP_000305.3:p.Ala309=
NM_000314.6:c.927A>G	NP_000305.3:p.Ala309=
NM_001304717.2:c.1446A>G	NP_001291646.2:p.Ala482=
NM_001304718.1:c.336A>G	NP_001291647.1:p.Ala112=
XM_006717926.2:c.882A>G	XP_006717989.1:p.Ala294=
XM_011539981.1:c.927A>G	XP_011538283.1:p.Ala309=
XM_011539982.1:c.831A>G	XP_011538284.1:p.Ala277=
XR_945791.1:n.1497A>G
NM_000314.7:c.927A>G	NP_000305.3:p.Ala309=
NM_001304717.5:c.1446A>G	NP_001291646.4:p.Ala482=
NM_001304718.2:c.336A>G	NP_001291647.1:p.Ala112=
NM_000314.8:c.927A>G MANE Select	NP_000305.3:p.Ala309=