Canonical Allele Identifier: CA470667594

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2082767
• ClinVar RCV Id: RCV002999390
• dbSNP Id: rs2132269114
• COSMIC: COSM5165
• MyVariant Identifiers: chr10:g.89711901C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952144C>T , CM000672.2:g.87952144C>T	GRCh38
NC_000010.10:g.89711901C>T , CM000672.1:g.89711901C>T	GRCh37
NC_000010.9:g.89701881C>T	NCBI36
NG_007466.2:g.93706C>T , LRG_311:g.93706C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.519C>T	ENSP00000514759.2:p.Arg173=
ENST00000710265.1:c.519C>T	ENSP00000518161.1:p.Arg173=
ENST00000472832.3:c.519C>T	ENSP00000483066.2:p.Arg173=
ENST00000688158.2:n.1254C>T
ENST00000688922.2:c.*349C>T	ENSP00000508742.2:n.*349C>T
ENST00000700021.1:c.474C>T	ENSP00000514757.1:p.Arg158=
ENST00000700022.1:c.493-5709C>T	ENSP00000514758.1:n.493-5709C>T
ENST00000700023.1:n.1677C>T
ENST00000700024.1:n.1911C>T
ENST00000700025.1:n.1288C>T
ENST00000700029.1:c.353C>T
ENST00000706954.1:c.519C>T	ENSP00000516674.1:p.Arg173=
ENST00000706955.1:c.*554C>T	ENSP00000516675.1:n.*554C>T
ENST00000686459.1:c.*105C>T	ENSP00000508909.1:n.*105C>T
ENST00000688158.1:c.*630C>T	ENSP00000509254.1:n.*630C>T
ENST00000688308.1:c.519C>T	ENSP00000508752.1:p.Arg173=
ENST00000688922.1:c.440C>T
ENST00000693560.1:c.1038C>T	ENSP00000509861.1:p.Arg346=
ENST00000371953.8:c.519C>T MANE Select	ENSP00000361021.3:p.Arg173=
ENST00000371953.7:c.519C>T	ENSP00000361021.3:p.Arg173=
NM_000314.5:c.519C>T	NP_000305.3:p.Arg173=
NM_000314.6:c.519C>T	NP_000305.3:p.Arg173=
NM_001304717.2:c.1038C>T	NP_001291646.2:p.Arg346=
NM_001304718.1:c.-73C>T	NP_001291647.1:n.-73C>T
XM_006717926.2:c.474C>T	XP_006717989.1:p.Arg158=
XM_011539981.1:c.519C>T	XP_011538283.1:p.Arg173=
XM_011539982.1:c.423C>T	XP_011538284.1:p.Arg141=
XR_945789.1:n.1390C>T
XR_945790.1:n.1507C>T
XR_945791.1:n.1205-5709C>T
NM_000314.7:c.519C>T	NP_000305.3:p.Arg173=
NM_001304717.5:c.1038C>T	NP_001291646.4:p.Arg346=
NM_001304718.2:c.-73C>T	NP_001291647.1:n.-73C>T
NM_000314.8:c.519C>T MANE Select	NP_000305.3:p.Arg173=