Canonical Allele Identifier: CA377484989
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1759194
ClinVar RCV Id: RCV002391600
dbSNP Id: rs2132277420
gnomAD v4: 10-87957967-G-A
COSMIC: COSM6438161
MyVariant Identifiers: chr10:g.89717724G>A (hg19) chr10:g.87957967G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957967G>A , CM000672.2:g.87957967G>A GRCh38
NC_000010.10:g.89717724G>A , CM000672.1:g.89717724G>A GRCh37
NC_000010.9:g.89707704G>A NCBI36
NG_007466.2:g.99529G>A , LRG_311:g.99529G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.749G>A ENSP00000514759.2:p.Cys250Tyr
ENST00000710265.1:c.749G>A ENSP00000518161.1:p.Cys250Tyr
ENST00000472832.3:c.749G>A ENSP00000483066.2:p.Cys250Tyr
ENST00000688158.2:n.1484G>A
ENST00000688922.2:c.*579G>A ENSP00000508742.2:n.*579G>A
ENST00000700021.1:c.704G>A ENSP00000514757.1:p.Cys235Tyr
ENST00000700022.1:c.*88G>A ENSP00000514758.1:n.*88G>A
ENST00000700023.1:n.1907G>A
ENST00000700024.1:n.2141G>A
ENST00000700025.1:n.1518G>A
ENST00000700026.1:n.386G>A
ENST00000700029.1:c.583G>A
ENST00000706954.1:c.749G>A ENSP00000516674.1:p.Cys250Tyr
ENST00000706955.1:c.*784G>A ENSP00000516675.1:n.*784G>A
ENST00000686459.1:c.*335G>A ENSP00000508909.1:n.*335G>A
ENST00000688158.1:c.*860G>A ENSP00000509254.1:n.*860G>A
ENST00000688308.1:c.749G>A ENSP00000508752.1:p.Cys250Tyr
ENST00000688922.1:c.670G>A
ENST00000693560.1:c.1268G>A ENSP00000509861.1:p.Cys423Tyr
ENST00000371953.8:c.749G>A MANE Select ENSP00000361021.3:p.Cys250Tyr
ENST00000371953.7:c.749G>A ENSP00000361021.3:p.Cys250Tyr
ENST00000472832.2:c.176G>A ENSP00000483066.1:p.Cys59Tyr
NM_000314.5:c.749G>A NP_000305.3:p.Cys250Tyr
NM_000314.6:c.749G>A NP_000305.3:p.Cys250Tyr
NM_001304717.2:c.1268G>A NP_001291646.2:p.Cys423Tyr
NM_001304718.1:c.158G>A NP_001291647.1:p.Cys53Tyr
XM_006717926.2:c.704G>A XP_006717989.1:p.Cys235Tyr
XM_011539981.1:c.749G>A XP_011538283.1:p.Cys250Tyr
XM_011539982.1:c.653G>A XP_011538284.1:p.Cys218Tyr
XR_945791.1:n.1319G>A
NM_000314.7:c.749G>A NP_000305.3:p.Cys250Tyr
NM_001304717.5:c.1268G>A NP_001291646.4:p.Cys423Tyr
NM_001304718.2:c.158G>A NP_001291647.1:p.Cys53Tyr
NM_000314.8:c.749G>A MANE Select NP_000305.3:p.Cys250Tyr
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