Canonical Allele Identifier: CA377482340

Gene: PTEN

Linked Data

• ClinVar Variation Id: 619908
• ClinVar RCV Id: RCV000760047 ; RCV001213983
• dbSNP Id: rs1114167676
• COSMIC: COSM921092
• MyVariant Identifiers: chr10:g.89692918G>C (hg19) ; chr10:g.87933161G>C (hg38)
• ERepo: CA377482340/MONDO:0017623/003

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933161G>C , CM000672.2:g.87933161G>C	GRCh38
NC_000010.10:g.89692918G>C , CM000672.1:g.89692918G>C	GRCh37
NC_000010.9:g.89682898G>C	NCBI36
NG_007466.2:g.74723G>C , LRG_311:g.74723G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.402G>C	ENSP00000514759.2:p.Met134Ile
ENST00000710265.1:c.402G>C	ENSP00000518161.1:p.Met134Ile
ENST00000472832.3:c.402G>C	ENSP00000483066.2:p.Met134Ile
ENST00000688158.2:n.1137G>C
ENST00000688922.2:c.*232G>C	ENSP00000508742.2:n.*232G>C
ENST00000700021.1:c.357G>C	ENSP00000514757.1:p.Met119Ile
ENST00000700022.1:c.402G>C	ENSP00000514758.1:p.Met134Ile
ENST00000700029.1:c.236G>C
ENST00000706954.1:c.402G>C	ENSP00000516674.1:p.Met134Ile
ENST00000706955.1:c.*437G>C	ENSP00000516675.1:n.*437G>C
ENST00000686459.1:c.402G>C	ENSP00000508909.1:p.Met134Ile
ENST00000688158.1:c.*513G>C	ENSP00000509254.1:n.*513G>C
ENST00000688308.1:c.402G>C	ENSP00000508752.1:p.Met134Ile
ENST00000688922.1:c.323G>C
ENST00000693560.1:c.921G>C	ENSP00000509861.1:p.Met307Ile
ENST00000371953.8:c.402G>C MANE Select	ENSP00000361021.3:p.Met134Ile
ENST00000371953.7:c.402G>C	ENSP00000361021.3:p.Met134Ile
ENST00000498703.1:n.228G>C
ENST00000610634.1:c.300G>C	ENSP00000477517.1:p.Met100Ile
NM_000314.5:c.402G>C	NP_000305.3:p.Met134Ile
NM_000314.6:c.402G>C	NP_000305.3:p.Met134Ile
NM_001304717.2:c.921G>C	NP_001291646.2:p.Met307Ile
NM_001304718.1:c.-349G>C	NP_001291647.1:n.-349G>C
XM_006717926.2:c.357G>C	XP_006717989.1:p.Met119Ile
XM_011539981.1:c.402G>C	XP_011538283.1:p.Met134Ile
XM_011539982.1:c.306G>C	XP_011538284.1:p.Met102Ile
XR_945789.1:n.1114G>C
XR_945790.1:n.1114G>C
XR_945791.1:n.1114G>C
NM_000314.7:c.402G>C	NP_000305.3:p.Met134Ile
NM_001304717.5:c.921G>C	NP_001291646.4:p.Met307Ile
NM_001304718.2:c.-349G>C	NP_001291647.1:n.-349G>C
NM_000314.8:c.402G>C MANE Select	NP_000305.3:p.Met134Ile