Canonical Allele Identifier: CA377484256

Gene: PTEN

Linked Data

• ClinVar Variation Id: 468694
• ClinVar RCV Id: RCV000540780 ; RCV004024064
• dbSNP Id: rs1554900530
• MyVariant Identifiers: chr10:g.89711885T>C (hg19) ; chr10:g.87952128T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952128T>C , CM000672.2:g.87952128T>C	GRCh38
NC_000010.10:g.89711885T>C , CM000672.1:g.89711885T>C	GRCh37
NC_000010.9:g.89701865T>C	NCBI36
NG_007466.2:g.93690T>C , LRG_311:g.93690T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.503T>C	ENSP00000514759.2:p.Ile168Thr
ENST00000710265.1:c.503T>C	ENSP00000518161.1:p.Ile168Thr
ENST00000472832.3:c.503T>C	ENSP00000483066.2:p.Ile168Thr
ENST00000688158.2:n.1238T>C
ENST00000688922.2:c.*333T>C	ENSP00000508742.2:n.*333T>C
ENST00000700021.1:c.458T>C	ENSP00000514757.1:p.Ile153Thr
ENST00000700022.1:c.493-5725T>C	ENSP00000514758.1:n.493-5725T>C
ENST00000700023.1:n.1661T>C
ENST00000700024.1:n.1895T>C
ENST00000700025.1:n.1272T>C
ENST00000700029.1:c.337T>C
ENST00000706954.1:c.503T>C	ENSP00000516674.1:p.Ile168Thr
ENST00000706955.1:c.*538T>C	ENSP00000516675.1:n.*538T>C
ENST00000686459.1:c.*89T>C	ENSP00000508909.1:n.*89T>C
ENST00000688158.1:c.*614T>C	ENSP00000509254.1:n.*614T>C
ENST00000688308.1:c.503T>C	ENSP00000508752.1:p.Ile168Thr
ENST00000688922.1:c.424T>C
ENST00000693560.1:c.1022T>C	ENSP00000509861.1:p.Ile341Thr
ENST00000371953.8:c.503T>C MANE Select	ENSP00000361021.3:p.Ile168Thr
ENST00000371953.7:c.503T>C	ENSP00000361021.3:p.Ile168Thr
NM_000314.5:c.503T>C	NP_000305.3:p.Ile168Thr
NM_000314.6:c.503T>C	NP_000305.3:p.Ile168Thr
NM_001304717.2:c.1022T>C	NP_001291646.2:p.Ile341Thr
NM_001304718.1:c.-89T>C	NP_001291647.1:n.-89T>C
XM_006717926.2:c.458T>C	XP_006717989.1:p.Ile153Thr
XM_011539981.1:c.503T>C	XP_011538283.1:p.Ile168Thr
XM_011539982.1:c.407T>C	XP_011538284.1:p.Ile136Thr
XR_945789.1:n.1374T>C
XR_945790.1:n.1491T>C
XR_945791.1:n.1205-5725T>C
NM_000314.7:c.503T>C	NP_000305.3:p.Ile168Thr
NM_001304717.5:c.1022T>C	NP_001291646.4:p.Ile341Thr
NM_001304718.2:c.-89T>C	NP_001291647.1:n.-89T>C
NM_000314.8:c.503T>C MANE Select	NP_000305.3:p.Ile168Thr