Canonical Allele Identifier: CA377485548
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132281941

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960929C>G , CM000672.2:g.87960929C>G GRCh38
NC_000010.10:g.89720686C>G , CM000672.1:g.89720686C>G GRCh37
NC_000010.9:g.89710666C>G NCBI36
NG_007466.2:g.102491C>G , LRG_311:g.102491C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.930C>G ENSP00000514759.2:p.Phe310Leu
ENST00000710265.1:c.837C>G ENSP00000518161.1:p.Phe279Leu
ENST00000472832.3:c.837C>G ENSP00000483066.2:p.Phe279Leu
ENST00000688158.2:n.1572C>G
ENST00000688922.2:c.*667C>G ENSP00000508742.2:n.*667C>G
ENST00000700021.1:c.792C>G ENSP00000514757.1:p.Phe264Leu
ENST00000700022.1:c.*176C>G ENSP00000514758.1:n.*176C>G
ENST00000700023.1:n.1995C>G
ENST00000700024.1:n.2229C>G
ENST00000700025.1:n.1606C>G
ENST00000700026.1:n.474C>G
ENST00000700029.1:c.764C>G
ENST00000706954.1:c.837C>G ENSP00000516674.1:p.Phe279Leu
ENST00000706955.1:c.*872C>G ENSP00000516675.1:n.*872C>G
ENST00000686459.1:c.*423C>G ENSP00000508909.1:n.*423C>G
ENST00000688158.1:c.*948C>G ENSP00000509254.1:n.*948C>G
ENST00000688308.1:c.837C>G ENSP00000508752.1:p.Phe279Leu
ENST00000688922.1:c.758C>G
ENST00000693560.1:c.1356C>G ENSP00000509861.1:p.Phe452Leu
ENST00000371953.8:c.837C>G MANE Select ENSP00000361021.3:p.Phe279Leu
ENST00000371953.7:c.837C>G ENSP00000361021.3:p.Phe279Leu
ENST00000472832.2:c.264C>G ENSP00000483066.1:p.Phe88Leu
NM_000314.5:c.837C>G NP_000305.3:p.Phe279Leu
NM_000314.6:c.837C>G NP_000305.3:p.Phe279Leu
NM_001304717.2:c.1356C>G NP_001291646.2:p.Phe452Leu
NM_001304718.1:c.246C>G NP_001291647.1:p.Phe82Leu
XM_006717926.2:c.792C>G XP_006717989.1:p.Phe264Leu
XM_011539981.1:c.837C>G XP_011538283.1:p.Phe279Leu
XM_011539982.1:c.741C>G XP_011538284.1:p.Phe247Leu
XR_945791.1:n.1407C>G
NM_000314.7:c.837C>G NP_000305.3:p.Phe279Leu
NM_001304717.5:c.1356C>G NP_001291646.4:p.Phe452Leu
NM_001304718.2:c.246C>G NP_001291647.1:p.Phe82Leu
NM_000314.8:c.837C>G MANE Select NP_000305.3:p.Phe279Leu