Canonical Allele Identifier: CA377485701

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2587206
• ClinVar RCV Id: RCV003358469 ; RCV003619840
• dbSNP Id: rs1860622339
• MyVariant Identifiers: chr10:g.89720727G>C (hg19) ; chr10:g.87960970G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960970G>C , CM000672.2:g.87960970G>C	GRCh38
NC_000010.10:g.89720727G>C , CM000672.1:g.89720727G>C	GRCh37
NC_000010.9:g.89710707G>C	NCBI36
NG_007466.2:g.102532G>C , LRG_311:g.102532G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.971G>C	ENSP00000514759.2:p.Gly324Ala
ENST00000710265.1:c.878G>C	ENSP00000518161.1:p.Gly293Ala
ENST00000472832.3:c.878G>C	ENSP00000483066.2:p.Gly293Ala
ENST00000688158.2:n.1613G>C
ENST00000688922.2:c.*708G>C	ENSP00000508742.2:n.*708G>C
ENST00000700021.1:c.833G>C	ENSP00000514757.1:p.Gly278Ala
ENST00000700022.1:c.*217G>C	ENSP00000514758.1:n.*217G>C
ENST00000700023.1:n.2036G>C
ENST00000700024.1:n.2270G>C
ENST00000700025.1:n.1647G>C
ENST00000700026.1:n.515G>C
ENST00000700029.1:c.805G>C
ENST00000706954.1:c.878G>C	ENSP00000516674.1:p.Gly293Ala
ENST00000706955.1:c.*913G>C	ENSP00000516675.1:n.*913G>C
ENST00000686459.1:c.*464G>C	ENSP00000508909.1:n.*464G>C
ENST00000688158.1:c.*989G>C	ENSP00000509254.1:n.*989G>C
ENST00000688308.1:c.878G>C	ENSP00000508752.1:p.Gly293Ala
ENST00000688922.1:c.799G>C
ENST00000693560.1:c.1397G>C	ENSP00000509861.1:p.Gly466Ala
ENST00000371953.8:c.878G>C MANE Select	ENSP00000361021.3:p.Gly293Ala
ENST00000371953.7:c.878G>C	ENSP00000361021.3:p.Gly293Ala
ENST00000472832.2:c.305G>C	ENSP00000483066.1:p.Gly102Ala
NM_000314.5:c.878G>C	NP_000305.3:p.Gly293Ala
NM_000314.6:c.878G>C	NP_000305.3:p.Gly293Ala
NM_001304717.2:c.1397G>C	NP_001291646.2:p.Gly466Ala
NM_001304718.1:c.287G>C	NP_001291647.1:p.Gly96Ala
XM_006717926.2:c.833G>C	XP_006717989.1:p.Gly278Ala
XM_011539981.1:c.878G>C	XP_011538283.1:p.Gly293Ala
XM_011539982.1:c.782G>C	XP_011538284.1:p.Gly261Ala
XR_945791.1:n.1448G>C
NM_000314.7:c.878G>C	NP_000305.3:p.Gly293Ala
NM_001304717.5:c.1397G>C	NP_001291646.4:p.Gly466Ala
NM_001304718.2:c.287G>C	NP_001291647.1:p.Gly96Ala
NM_000314.8:c.878G>C MANE Select	NP_000305.3:p.Gly293Ala