Canonical Allele Identifier: CA470671131

Gene: PTEN

Linked Data

• ClinVar Variation Id: 536570
• ClinVar RCV Id: RCV000645088
• dbSNP Id: rs1355576298
• gnomAD v2: 10-89725109-T-G
• gnomAD v4: 10-87965352-T-G
• MyVariant Identifiers: chr10:g.89725109T>G (hg19) ; chr10:g.87965352T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965352T>G , CM000672.2:g.87965352T>G	GRCh38
NC_000010.10:g.89725109T>G , CM000672.1:g.89725109T>G	GRCh37
NC_000010.9:g.89715089T>G	NCBI36
NG_007466.2:g.106914T>G , LRG_311:g.106914T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1185T>G	ENSP00000514759.2:p.Ser395=
ENST00000710265.1:c.*121T>G	ENSP00000518161.1:n.*121T>G
ENST00000688158.2:n.1827T>G
ENST00000688922.2:c.*922T>G	ENSP00000508742.2:n.*922T>G
ENST00000700021.1:c.1047T>G	ENSP00000514757.1:p.Ser349=
ENST00000700022.1:c.*431T>G	ENSP00000514758.1:n.*431T>G
ENST00000700023.1:n.2250T>G
ENST00000700024.1:n.2484T>G
ENST00000706954.1:c.1092T>G	ENSP00000516674.1:p.Ser364=
ENST00000706955.1:c.*1127T>G	ENSP00000516675.1:n.*1127T>G
ENST00000686459.1:c.*678T>G	ENSP00000508909.1:n.*678T>G
ENST00000688158.1:c.*1203T>G	ENSP00000509254.1:n.*1203T>G
ENST00000688308.1:c.1092T>G	ENSP00000508752.1:p.Ser364=
ENST00000688922.1:c.1013T>G
ENST00000693560.1:c.1611T>G	ENSP00000509861.1:p.Ser537=
ENST00000371953.8:c.1092T>G MANE Select	ENSP00000361021.3:p.Ser364=
ENST00000371953.7:c.1092T>G	ENSP00000361021.3:p.Ser364=
NM_000314.5:c.1092T>G	NP_000305.3:p.Ser364=
NM_000314.6:c.1092T>G	NP_000305.3:p.Ser364=
NM_001304717.2:c.1611T>G	NP_001291646.2:p.Ser537=
NM_001304718.1:c.501T>G	NP_001291647.1:p.Ser167=
XM_006717926.2:c.1047T>G	XP_006717989.1:p.Ser349=
XM_011539982.1:c.996T>G	XP_011538284.1:p.Ser332=
XR_945791.1:n.1662T>G
NM_000314.7:c.1092T>G	NP_000305.3:p.Ser364=
NM_001304717.5:c.1611T>G	NP_001291646.4:p.Ser537=
NM_001304718.2:c.501T>G	NP_001291647.1:p.Ser167=
NM_000314.8:c.1092T>G MANE Select	NP_000305.3:p.Ser364=