Canonical Allele Identifier: CA377481238
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 936561
ClinVar RCV Id: RCV001205381 RCV001812250 RCV003449650
dbSNP Id: rs1554897856
COSMIC: COSM5102
MyVariant Identifiers: chr10:g.89690805G>A (hg19) chr10:g.87931048G>A (hg38)
ERepo: CA377481238/MONDO:0017623/003
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87931048G>A , CM000672.2:g.87931048G>A GRCh38
NC_000010.10:g.89690805G>A , CM000672.1:g.89690805G>A GRCh37
NC_000010.9:g.89680785G>A NCBI36
NG_007466.2:g.72610G>A , LRG_311:g.72610G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.212G>A ENSP00000514759.2:p.Cys71Tyr
ENST00000710265.1:c.212G>A ENSP00000518161.1:p.Cys71Tyr
ENST00000472832.3:c.212G>A ENSP00000483066.2:p.Cys71Tyr
ENST00000688158.2:n.947G>A
ENST00000688922.2:c.*42G>A ENSP00000508742.2:n.*42G>A
ENST00000700021.1:c.167G>A ENSP00000514757.1:p.Cys56Tyr
ENST00000700022.1:c.212G>A ENSP00000514758.1:p.Cys71Tyr
ENST00000700029.1:c.46G>A
ENST00000706954.1:c.212G>A ENSP00000516674.1:p.Cys71Tyr
ENST00000706955.1:c.*247G>A ENSP00000516675.1:n.*247G>A
ENST00000686459.1:c.212G>A ENSP00000508909.1:p.Cys71Tyr
ENST00000688158.1:c.*323G>A ENSP00000509254.1:n.*323G>A
ENST00000688308.1:c.212G>A ENSP00000508752.1:p.Cys71Tyr
ENST00000688922.1:c.133G>A
ENST00000693560.1:c.731G>A ENSP00000509861.1:p.Cys244Tyr
ENST00000371953.8:c.212G>A MANE Select ENSP00000361021.3:p.Cys71Tyr
ENST00000371953.7:c.212G>A ENSP00000361021.3:p.Cys71Tyr
ENST00000498703.1:n.38G>A
ENST00000610634.1:c.110G>A ENSP00000477517.1:p.Cys37Tyr
NM_000314.5:c.212G>A NP_000305.3:p.Cys71Tyr
NM_000314.6:c.212G>A NP_000305.3:p.Cys71Tyr
NM_001304717.2:c.731G>A NP_001291646.2:p.Cys244Tyr
NM_001304718.1:c.-539G>A NP_001291647.1:n.-539G>A
XM_006717926.2:c.167G>A XP_006717989.1:p.Cys56Tyr
XM_011539981.1:c.212G>A XP_011538283.1:p.Cys71Tyr
XM_011539982.1:c.116G>A XP_011538284.1:p.Cys39Tyr
XR_945789.1:n.924G>A
XR_945790.1:n.924G>A
XR_945791.1:n.924G>A
NM_000314.7:c.212G>A NP_000305.3:p.Cys71Tyr
NM_001304717.5:c.731G>A NP_001291646.4:p.Cys244Tyr
NM_001304718.2:c.-539G>A NP_001291647.1:n.-539G>A
NM_000314.8:c.212G>A MANE Select NP_000305.3:p.Cys71Tyr
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