Canonical Allele Identifier: CA377486055

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428231
• ClinVar RCV Id: RCV000491180 ; RCV001851332
• dbSNP Id: rs1114167654
• COSMIC: COSM86052
• MyVariant Identifiers: chr10:g.89720823T>C (hg19) ; chr10:g.87961066T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961066T>C , CM000672.2:g.87961066T>C	GRCh38
NC_000010.10:g.89720823T>C , CM000672.1:g.89720823T>C	GRCh37
NC_000010.9:g.89710803T>C	NCBI36
NG_007466.2:g.102628T>C , LRG_311:g.102628T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1067T>C	ENSP00000514759.2:p.Leu356Pro
ENST00000710265.1:c.974T>C	ENSP00000518161.1:p.Leu325Pro
ENST00000472832.3:c.974T>C	ENSP00000483066.2:p.Leu325Pro
ENST00000688158.2:n.1709T>C
ENST00000688922.2:c.*804T>C	ENSP00000508742.2:n.*804T>C
ENST00000700021.1:c.929T>C	ENSP00000514757.1:p.Leu310Pro
ENST00000700022.1:c.*313T>C	ENSP00000514758.1:n.*313T>C
ENST00000700023.1:n.2132T>C
ENST00000700024.1:n.2366T>C
ENST00000700025.1:n.1743T>C
ENST00000700026.1:n.611T>C
ENST00000706954.1:c.974T>C	ENSP00000516674.1:p.Leu325Pro
ENST00000706955.1:c.*1009T>C	ENSP00000516675.1:n.*1009T>C
ENST00000686459.1:c.*560T>C	ENSP00000508909.1:n.*560T>C
ENST00000688158.1:c.*1085T>C	ENSP00000509254.1:n.*1085T>C
ENST00000688308.1:c.974T>C	ENSP00000508752.1:p.Leu325Pro
ENST00000688922.1:c.895T>C
ENST00000693560.1:c.1493T>C	ENSP00000509861.1:p.Leu498Pro
ENST00000371953.8:c.974T>C MANE Select	ENSP00000361021.3:p.Leu325Pro
ENST00000371953.7:c.974T>C	ENSP00000361021.3:p.Leu325Pro
ENST00000472832.2:c.401T>C	ENSP00000483066.1:p.Leu134Pro
NM_000314.5:c.974T>C	NP_000305.3:p.Leu325Pro
NM_000314.6:c.974T>C	NP_000305.3:p.Leu325Pro
NM_001304717.2:c.1493T>C	NP_001291646.2:p.Leu498Pro
NM_001304718.1:c.383T>C	NP_001291647.1:p.Leu128Pro
XM_006717926.2:c.929T>C	XP_006717989.1:p.Leu310Pro
XM_011539981.1:c.974T>C	XP_011538283.1:p.Leu325Pro
XM_011539982.1:c.878T>C	XP_011538284.1:p.Leu293Pro
XR_945791.1:n.1544T>C
NM_000314.7:c.974T>C	NP_000305.3:p.Leu325Pro
NM_001304717.5:c.1493T>C	NP_001291646.4:p.Leu498Pro
NM_001304718.2:c.383T>C	NP_001291647.1:p.Leu128Pro
NM_000314.8:c.974T>C MANE Select	NP_000305.3:p.Leu325Pro