Canonical Allele Identifier: CA377485630
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 428238
dbSNP Id: rs863224909

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960952C>A , CM000672.2:g.87960952C>A GRCh38
NC_000010.10:g.89720709C>A , CM000672.1:g.89720709C>A GRCh37
NC_000010.9:g.89710689C>A NCBI36
NG_007466.2:g.102514C>A , LRG_311:g.102514C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.953C>A ENSP00000514759.2:p.Ser318Ter
ENST00000710265.1:c.860C>A ENSP00000518161.1:p.Ser287Ter
ENST00000472832.3:c.860C>A ENSP00000483066.2:p.Ser287Ter
ENST00000688158.2:n.1595C>A
ENST00000688922.2:c.*690C>A ENSP00000508742.2:n.*690C>A
ENST00000700021.1:c.815C>A ENSP00000514757.1:p.Ser272Ter
ENST00000700022.1:c.*199C>A ENSP00000514758.1:n.*199C>A
ENST00000700023.1:n.2018C>A
ENST00000700024.1:n.2252C>A
ENST00000700025.1:n.1629C>A
ENST00000700026.1:n.497C>A
ENST00000700029.1:c.787C>A
ENST00000706954.1:c.860C>A ENSP00000516674.1:p.Ser287Ter
ENST00000706955.1:c.*895C>A ENSP00000516675.1:n.*895C>A
ENST00000686459.1:c.*446C>A ENSP00000508909.1:n.*446C>A
ENST00000688158.1:c.*971C>A ENSP00000509254.1:n.*971C>A
ENST00000688308.1:c.860C>A ENSP00000508752.1:p.Ser287Ter
ENST00000688922.1:c.781C>A
ENST00000693560.1:c.1379C>A ENSP00000509861.1:p.Ser460Ter
ENST00000371953.8:c.860C>A MANE Select ENSP00000361021.3:p.Ser287Ter
ENST00000371953.7:c.860C>A ENSP00000361021.3:p.Ser287Ter
ENST00000472832.2:c.287C>A ENSP00000483066.1:p.Ser96Ter
NM_000314.5:c.860C>A NP_000305.3:p.Ser287Ter
NM_000314.6:c.860C>A NP_000305.3:p.Ser287Ter
NM_001304717.2:c.1379C>A NP_001291646.2:p.Ser460Ter
NM_001304718.1:c.269C>A NP_001291647.1:p.Ser90Ter
XM_006717926.2:c.815C>A XP_006717989.1:p.Ser272Ter
XM_011539981.1:c.860C>A XP_011538283.1:p.Ser287Ter
XM_011539982.1:c.764C>A XP_011538284.1:p.Ser255Ter
XR_945791.1:n.1430C>A
NM_000314.7:c.860C>A NP_000305.3:p.Ser287Ter
NM_001304717.5:c.1379C>A NP_001291646.4:p.Ser460Ter
NM_001304718.2:c.269C>A NP_001291647.1:p.Ser90Ter
NM_000314.8:c.860C>A MANE Select NP_000305.3:p.Ser287Ter