Canonical Allele Identifier: CA470974082

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1949070
• ClinVar RCV Id: RCV002676005 ; RCV003167620
• MyVariant Identifiers: chr10:g.89720824T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961067T>C , CM000672.2:g.87961067T>C	GRCh38
NC_000010.10:g.89720824T>C , CM000672.1:g.89720824T>C	GRCh37
NC_000010.9:g.89710804T>C	NCBI36
NG_007466.2:g.102629T>C , LRG_311:g.102629T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1068T>C	ENSP00000514759.2:p.Leu356=
ENST00000710265.1:c.975T>C	ENSP00000518161.1:p.Leu325=
ENST00000472832.3:c.975T>C	ENSP00000483066.2:p.Leu325=
ENST00000688158.2:n.1710T>C
ENST00000688922.2:c.*805T>C	ENSP00000508742.2:n.*805T>C
ENST00000700021.1:c.930T>C	ENSP00000514757.1:p.Leu310=
ENST00000700022.1:c.*314T>C	ENSP00000514758.1:n.*314T>C
ENST00000700023.1:n.2133T>C
ENST00000700024.1:n.2367T>C
ENST00000700025.1:n.1744T>C
ENST00000700026.1:n.612T>C
ENST00000706954.1:c.975T>C	ENSP00000516674.1:p.Leu325=
ENST00000706955.1:c.*1010T>C	ENSP00000516675.1:n.*1010T>C
ENST00000686459.1:c.*561T>C	ENSP00000508909.1:n.*561T>C
ENST00000688158.1:c.*1086T>C	ENSP00000509254.1:n.*1086T>C
ENST00000688308.1:c.975T>C	ENSP00000508752.1:p.Leu325=
ENST00000688922.1:c.896T>C
ENST00000693560.1:c.1494T>C	ENSP00000509861.1:p.Leu498=
ENST00000371953.8:c.975T>C MANE Select	ENSP00000361021.3:p.Leu325=
ENST00000371953.7:c.975T>C	ENSP00000361021.3:p.Leu325=
ENST00000472832.2:c.402T>C	ENSP00000483066.1:p.Leu134=
NM_000314.5:c.975T>C	NP_000305.3:p.Leu325=
NM_000314.6:c.975T>C	NP_000305.3:p.Leu325=
NM_001304717.2:c.1494T>C	NP_001291646.2:p.Leu498=
NM_001304718.1:c.384T>C	NP_001291647.1:p.Leu128=
XM_006717926.2:c.930T>C	XP_006717989.1:p.Leu310=
XM_011539981.1:c.975T>C	XP_011538283.1:p.Leu325=
XM_011539982.1:c.879T>C	XP_011538284.1:p.Leu293=
XR_945791.1:n.1545T>C
NM_000314.7:c.975T>C	NP_000305.3:p.Leu325=
NM_001304717.5:c.1494T>C	NP_001291646.4:p.Leu498=
NM_001304718.2:c.384T>C	NP_001291647.1:p.Leu128=
NM_000314.8:c.975T>C MANE Select	NP_000305.3:p.Leu325=