Canonical Allele Identifier: CA000564
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 7849
dbSNP Id: rs121909239
COSMIC: COSM5125

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957973A>G , CM000672.2:g.87957973A>G GRCh38
NC_000010.10:g.89717730A>G , CM000672.1:g.89717730A>G GRCh37
NC_000010.9:g.89707710A>G NCBI36
NG_007466.2:g.99535A>G , LRG_311:g.99535A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.755A>G ENSP00000514759.2:p.Asp252Gly
ENST00000710265.1:c.755A>G ENSP00000518161.1:p.Asp252Gly
ENST00000472832.3:c.755A>G ENSP00000483066.2:p.Asp252Gly
ENST00000688158.2:n.1490A>G
ENST00000688922.2:c.*585A>G ENSP00000508742.2:n.*585A>G
ENST00000700021.1:c.710A>G ENSP00000514757.1:p.Asp237Gly
ENST00000700022.1:c.*94A>G ENSP00000514758.1:n.*94A>G
ENST00000700023.1:n.1913A>G
ENST00000700024.1:n.2147A>G
ENST00000700025.1:n.1524A>G
ENST00000700026.1:n.392A>G
ENST00000700029.1:c.589A>G
ENST00000706954.1:c.755A>G ENSP00000516674.1:p.Asp252Gly
ENST00000706955.1:c.*790A>G ENSP00000516675.1:n.*790A>G
ENST00000686459.1:c.*341A>G ENSP00000508909.1:n.*341A>G
ENST00000688158.1:c.*866A>G ENSP00000509254.1:n.*866A>G
ENST00000688308.1:c.755A>G ENSP00000508752.1:p.Asp252Gly
ENST00000688922.1:c.676A>G
ENST00000693560.1:c.1274A>G ENSP00000509861.1:p.Asp425Gly
ENST00000371953.8:c.755A>G MANE Select ENSP00000361021.3:p.Asp252Gly
ENST00000371953.7:c.755A>G ENSP00000361021.3:p.Asp252Gly
ENST00000472832.2:c.182A>G ENSP00000483066.1:p.Asp61Gly
NM_000314.5:c.755A>G NP_000305.3:p.Asp252Gly
NM_000314.6:c.755A>G NP_000305.3:p.Asp252Gly
NM_001304717.2:c.1274A>G NP_001291646.2:p.Asp425Gly
NM_001304718.1:c.164A>G NP_001291647.1:p.Asp55Gly
XM_006717926.2:c.710A>G XP_006717989.1:p.Asp237Gly
XM_011539981.1:c.755A>G XP_011538283.1:p.Asp252Gly
XM_011539982.1:c.659A>G XP_011538284.1:p.Asp220Gly
XR_945791.1:n.1325A>G
NM_000314.7:c.755A>G NP_000305.3:p.Asp252Gly
NM_001304717.5:c.1274A>G NP_001291646.4:p.Asp425Gly
NM_001304718.2:c.164A>G NP_001291647.1:p.Asp55Gly
NM_000314.8:c.755A>G MANE Select NP_000305.3:p.Asp252Gly