Canonical Allele Identifier: CA10577421
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 234509
dbSNP Id: rs876661058

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961037T>A , CM000672.2:g.87961037T>A GRCh38
NC_000010.10:g.89720794T>A , CM000672.1:g.89720794T>A GRCh37
NC_000010.9:g.89710774T>A NCBI36
NG_007466.2:g.102599T>A , LRG_311:g.102599T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1038T>A ENSP00000514759.2:p.Tyr346Ter
ENST00000710265.1:c.945T>A ENSP00000518161.1:p.Tyr315Ter
ENST00000472832.3:c.945T>A ENSP00000483066.2:p.Tyr315Ter
ENST00000688158.2:n.1680T>A
ENST00000688922.2:c.*775T>A ENSP00000508742.2:n.*775T>A
ENST00000700021.1:c.900T>A ENSP00000514757.1:p.Tyr300Ter
ENST00000700022.1:c.*284T>A ENSP00000514758.1:n.*284T>A
ENST00000700023.1:n.2103T>A
ENST00000700024.1:n.2337T>A
ENST00000700025.1:n.1714T>A
ENST00000700026.1:n.582T>A
ENST00000706954.1:c.945T>A ENSP00000516674.1:p.Tyr315Ter
ENST00000706955.1:c.*980T>A ENSP00000516675.1:n.*980T>A
ENST00000686459.1:c.*531T>A ENSP00000508909.1:n.*531T>A
ENST00000688158.1:c.*1056T>A ENSP00000509254.1:n.*1056T>A
ENST00000688308.1:c.945T>A ENSP00000508752.1:p.Tyr315Ter
ENST00000688922.1:c.866T>A
ENST00000693560.1:c.1464T>A ENSP00000509861.1:p.Tyr488Ter
ENST00000371953.8:c.945T>A MANE Select ENSP00000361021.3:p.Tyr315Ter
ENST00000371953.7:c.945T>A ENSP00000361021.3:p.Tyr315Ter
ENST00000472832.2:c.372T>A ENSP00000483066.1:p.Tyr124Ter
NM_000314.5:c.945T>A NP_000305.3:p.Tyr315Ter
NM_000314.6:c.945T>A NP_000305.3:p.Tyr315Ter
NM_001304717.2:c.1464T>A NP_001291646.2:p.Tyr488Ter
NM_001304718.1:c.354T>A NP_001291647.1:p.Tyr118Ter
XM_006717926.2:c.900T>A XP_006717989.1:p.Tyr300Ter
XM_011539981.1:c.945T>A XP_011538283.1:p.Tyr315Ter
XM_011539982.1:c.849T>A XP_011538284.1:p.Tyr283Ter
XR_945791.1:n.1515T>A
NM_000314.7:c.945T>A NP_000305.3:p.Tyr315Ter
NM_001304717.5:c.1464T>A NP_001291646.4:p.Tyr488Ter
NM_001304718.2:c.354T>A NP_001291647.1:p.Tyr118Ter
NM_000314.8:c.945T>A MANE Select NP_000305.3:p.Tyr315Ter