Canonical Allele Identifier: CA377485501

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2682204
• ClinVar RCV Id: RCV003479577
• COSMIC: COSM28904
• MyVariant Identifiers: chr10:g.89720673T>C (hg19) ; chr10:g.87960916T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960916T>C , CM000672.2:g.87960916T>C	GRCh38
NC_000010.10:g.89720673T>C , CM000672.1:g.89720673T>C	GRCh37
NC_000010.9:g.89710653T>C	NCBI36
NG_007466.2:g.102478T>C , LRG_311:g.102478T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.917T>C	ENSP00000514759.2:p.Val306Ala
ENST00000710265.1:c.824T>C	ENSP00000518161.1:p.Val275Ala
ENST00000472832.3:c.824T>C	ENSP00000483066.2:p.Val275Ala
ENST00000688158.2:n.1559T>C
ENST00000688922.2:c.*654T>C	ENSP00000508742.2:n.*654T>C
ENST00000700021.1:c.779T>C	ENSP00000514757.1:p.Val260Ala
ENST00000700022.1:c.*163T>C	ENSP00000514758.1:n.*163T>C
ENST00000700023.1:n.1982T>C
ENST00000700024.1:n.2216T>C
ENST00000700025.1:n.1593T>C
ENST00000700026.1:n.461T>C
ENST00000700029.1:c.751T>C
ENST00000706954.1:c.824T>C	ENSP00000516674.1:p.Val275Ala
ENST00000706955.1:c.*859T>C	ENSP00000516675.1:n.*859T>C
ENST00000686459.1:c.*410T>C	ENSP00000508909.1:n.*410T>C
ENST00000688158.1:c.*935T>C	ENSP00000509254.1:n.*935T>C
ENST00000688308.1:c.824T>C	ENSP00000508752.1:p.Val275Ala
ENST00000688922.1:c.745T>C
ENST00000693560.1:c.1343T>C	ENSP00000509861.1:p.Val448Ala
ENST00000371953.8:c.824T>C MANE Select	ENSP00000361021.3:p.Val275Ala
ENST00000371953.7:c.824T>C	ENSP00000361021.3:p.Val275Ala
ENST00000472832.2:c.251T>C	ENSP00000483066.1:p.Val84Ala
NM_000314.5:c.824T>C	NP_000305.3:p.Val275Ala
NM_000314.6:c.824T>C	NP_000305.3:p.Val275Ala
NM_001304717.2:c.1343T>C	NP_001291646.2:p.Val448Ala
NM_001304718.1:c.233T>C	NP_001291647.1:p.Val78Ala
XM_006717926.2:c.779T>C	XP_006717989.1:p.Val260Ala
XM_011539981.1:c.824T>C	XP_011538283.1:p.Val275Ala
XM_011539982.1:c.728T>C	XP_011538284.1:p.Val243Ala
XR_945791.1:n.1394T>C
NM_000314.7:c.824T>C	NP_000305.3:p.Val275Ala
NM_001304717.5:c.1343T>C	NP_001291646.4:p.Val448Ala
NM_001304718.2:c.233T>C	NP_001291647.1:p.Val78Ala
NM_000314.8:c.824T>C MANE Select	NP_000305.3:p.Val275Ala