Canonical Allele Identifier: CA377485087
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958008A>C , CM000672.2:g.87958008A>C GRCh38
NC_000010.10:g.89717765A>C , CM000672.1:g.89717765A>C GRCh37
NC_000010.9:g.89707745A>C NCBI36
NG_007466.2:g.99570A>C , LRG_311:g.99570A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.790A>C ENSP00000514759.2:p.Met264Leu
ENST00000710265.1:c.790A>C ENSP00000518161.1:p.Met264Leu
ENST00000472832.3:c.790A>C ENSP00000483066.2:p.Met264Leu
ENST00000688158.2:n.1525A>C
ENST00000688922.2:c.*620A>C ENSP00000508742.2:n.*620A>C
ENST00000700021.1:c.745A>C ENSP00000514757.1:p.Met249Leu
ENST00000700022.1:c.*129A>C ENSP00000514758.1:n.*129A>C
ENST00000700023.1:n.1948A>C
ENST00000700024.1:n.2182A>C
ENST00000700025.1:n.1559A>C
ENST00000700026.1:n.427A>C
ENST00000700029.1:c.624A>C
ENST00000706954.1:c.790A>C ENSP00000516674.1:p.Met264Leu
ENST00000706955.1:c.*825A>C ENSP00000516675.1:n.*825A>C
ENST00000686459.1:c.*376A>C ENSP00000508909.1:n.*376A>C
ENST00000688158.1:c.*901A>C ENSP00000509254.1:n.*901A>C
ENST00000688308.1:c.790A>C ENSP00000508752.1:p.Met264Leu
ENST00000688922.1:c.711A>C
ENST00000693560.1:c.1309A>C ENSP00000509861.1:p.Met437Leu
ENST00000371953.8:c.790A>C MANE Select ENSP00000361021.3:p.Met264Leu
ENST00000371953.7:c.790A>C ENSP00000361021.3:p.Met264Leu
ENST00000472832.2:c.217A>C ENSP00000483066.1:p.Met73Leu
NM_000314.5:c.790A>C NP_000305.3:p.Met264Leu
NM_000314.6:c.790A>C NP_000305.3:p.Met264Leu
NM_001304717.2:c.1309A>C NP_001291646.2:p.Met437Leu
NM_001304718.1:c.199A>C NP_001291647.1:p.Met67Leu
XM_006717926.2:c.745A>C XP_006717989.1:p.Met249Leu
XM_011539981.1:c.790A>C XP_011538283.1:p.Met264Leu
XM_011539982.1:c.694A>C XP_011538284.1:p.Met232Leu
XR_945791.1:n.1360A>C
NM_000314.7:c.790A>C NP_000305.3:p.Met264Leu
NM_001304717.5:c.1309A>C NP_001291646.4:p.Met437Leu
NM_001304718.2:c.199A>C NP_001291647.1:p.Met67Leu
NM_000314.8:c.790A>C MANE Select NP_000305.3:p.Met264Leu