Canonical Allele Identifier: CA470669146

Gene: PTEN

Linked Data

• ClinVar Variation Id: 826397
• ClinVar RCV Id: RCV001025258 ; RCV001469459
• dbSNP Id: rs1589663143
• MyVariant Identifiers: chr10:g.89717617G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957860G>A , CM000672.2:g.87957860G>A	GRCh38
NC_000010.10:g.89717617G>A , CM000672.1:g.89717617G>A	GRCh37
NC_000010.9:g.89707597G>A	NCBI36
NG_007466.2:g.99422G>A , LRG_311:g.99422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.642G>A	ENSP00000514759.2:p.Gln214=
ENST00000710265.1:c.642G>A	ENSP00000518161.1:p.Gln214=
ENST00000472832.3:c.642G>A	ENSP00000483066.2:p.Gln214=
ENST00000688158.2:n.1377G>A
ENST00000688922.2:c.*472G>A	ENSP00000508742.2:n.*472G>A
ENST00000700021.1:c.597G>A	ENSP00000514757.1:p.Gln199=
ENST00000700022.1:c.500G>A	ENSP00000514758.1:p.Ser167Asn
ENST00000700023.1:n.1800G>A
ENST00000700024.1:n.2034G>A
ENST00000700025.1:n.1411G>A
ENST00000700026.1:n.279G>A
ENST00000700029.1:c.476G>A
ENST00000706954.1:c.642G>A	ENSP00000516674.1:p.Gln214=
ENST00000706955.1:c.*677G>A	ENSP00000516675.1:n.*677G>A
ENST00000686459.1:c.*228G>A	ENSP00000508909.1:n.*228G>A
ENST00000688158.1:c.*753G>A	ENSP00000509254.1:n.*753G>A
ENST00000688308.1:c.642G>A	ENSP00000508752.1:p.Gln214=
ENST00000688922.1:c.563G>A
ENST00000693560.1:c.1161G>A	ENSP00000509861.1:p.Gln387=
ENST00000371953.8:c.642G>A MANE Select	ENSP00000361021.3:p.Gln214=
ENST00000371953.7:c.642G>A	ENSP00000361021.3:p.Gln214=
ENST00000472832.2:c.69G>A	ENSP00000483066.1:p.Gln23=
NM_000314.5:c.642G>A	NP_000305.3:p.Gln214=
NM_000314.6:c.642G>A	NP_000305.3:p.Gln214=
NM_001304717.2:c.1161G>A	NP_001291646.2:p.Gln387=
NM_001304718.1:c.51G>A	NP_001291647.1:p.Gln17=
XM_006717926.2:c.597G>A	XP_006717989.1:p.Gln199=
XM_011539981.1:c.642G>A	XP_011538283.1:p.Gln214=
XM_011539982.1:c.546G>A	XP_011538284.1:p.Gln182=
XR_945791.1:n.1212G>A
NM_000314.7:c.642G>A	NP_000305.3:p.Gln214=
NM_001304717.5:c.1161G>A	NP_001291646.4:p.Gln387=
NM_001304718.2:c.51G>A	NP_001291647.1:p.Gln17=
NM_000314.8:c.642G>A MANE Select	NP_000305.3:p.Gln214=