Canonical Allele Identifier: CA470974050

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1094776
• ClinVar RCV Id: RCV001415442
• dbSNP Id: rs2132283142
• MyVariant Identifiers: chr10:g.89720806T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961049T>C , CM000672.2:g.87961049T>C	GRCh38
NC_000010.10:g.89720806T>C , CM000672.1:g.89720806T>C	GRCh37
NC_000010.9:g.89710786T>C	NCBI36
NG_007466.2:g.102611T>C , LRG_311:g.102611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1050T>C	ENSP00000514759.2:p.Thr350=
ENST00000710265.1:c.957T>C	ENSP00000518161.1:p.Thr319=
ENST00000472832.3:c.957T>C	ENSP00000483066.2:p.Thr319=
ENST00000688158.2:n.1692T>C
ENST00000688922.2:c.*787T>C	ENSP00000508742.2:n.*787T>C
ENST00000700021.1:c.912T>C	ENSP00000514757.1:p.Thr304=
ENST00000700022.1:c.*296T>C	ENSP00000514758.1:n.*296T>C
ENST00000700023.1:n.2115T>C
ENST00000700024.1:n.2349T>C
ENST00000700025.1:n.1726T>C
ENST00000700026.1:n.594T>C
ENST00000706954.1:c.957T>C	ENSP00000516674.1:p.Thr319=
ENST00000706955.1:c.*992T>C	ENSP00000516675.1:n.*992T>C
ENST00000686459.1:c.*543T>C	ENSP00000508909.1:n.*543T>C
ENST00000688158.1:c.*1068T>C	ENSP00000509254.1:n.*1068T>C
ENST00000688308.1:c.957T>C	ENSP00000508752.1:p.Thr319=
ENST00000688922.1:c.878T>C
ENST00000693560.1:c.1476T>C	ENSP00000509861.1:p.Thr492=
ENST00000371953.8:c.957T>C MANE Select	ENSP00000361021.3:p.Thr319=
ENST00000371953.7:c.957T>C	ENSP00000361021.3:p.Thr319=
ENST00000472832.2:c.384T>C	ENSP00000483066.1:p.Thr128=
NM_000314.5:c.957T>C	NP_000305.3:p.Thr319=
NM_000314.6:c.957T>C	NP_000305.3:p.Thr319=
NM_001304717.2:c.1476T>C	NP_001291646.2:p.Thr492=
NM_001304718.1:c.366T>C	NP_001291647.1:p.Thr122=
XM_006717926.2:c.912T>C	XP_006717989.1:p.Thr304=
XM_011539981.1:c.957T>C	XP_011538283.1:p.Thr319=
XM_011539982.1:c.861T>C	XP_011538284.1:p.Thr287=
XR_945791.1:n.1527T>C
NM_000314.7:c.957T>C	NP_000305.3:p.Thr319=
NM_001304717.5:c.1476T>C	NP_001291646.4:p.Thr492=
NM_001304718.2:c.366T>C	NP_001291647.1:p.Thr122=
NM_000314.8:c.957T>C MANE Select	NP_000305.3:p.Thr319=