Canonical Allele Identifier: CA377485838
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961008A>C , CM000672.2:g.87961008A>C GRCh38
NC_000010.10:g.89720765A>C , CM000672.1:g.89720765A>C GRCh37
NC_000010.9:g.89710745A>C NCBI36
NG_007466.2:g.102570A>C , LRG_311:g.102570A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1009A>C ENSP00000514759.2:p.Ile337Leu
ENST00000710265.1:c.916A>C ENSP00000518161.1:p.Ile306Leu
ENST00000472832.3:c.916A>C ENSP00000483066.2:p.Ile306Leu
ENST00000688158.2:n.1651A>C
ENST00000688922.2:c.*746A>C ENSP00000508742.2:n.*746A>C
ENST00000700021.1:c.871A>C ENSP00000514757.1:p.Ile291Leu
ENST00000700022.1:c.*255A>C ENSP00000514758.1:n.*255A>C
ENST00000700023.1:n.2074A>C
ENST00000700024.1:n.2308A>C
ENST00000700025.1:n.1685A>C
ENST00000700026.1:n.553A>C
ENST00000706954.1:c.916A>C ENSP00000516674.1:p.Ile306Leu
ENST00000706955.1:c.*951A>C ENSP00000516675.1:n.*951A>C
ENST00000686459.1:c.*502A>C ENSP00000508909.1:n.*502A>C
ENST00000688158.1:c.*1027A>C ENSP00000509254.1:n.*1027A>C
ENST00000688308.1:c.916A>C ENSP00000508752.1:p.Ile306Leu
ENST00000688922.1:c.837A>C
ENST00000693560.1:c.1435A>C ENSP00000509861.1:p.Ile479Leu
ENST00000371953.8:c.916A>C MANE Select ENSP00000361021.3:p.Ile306Leu
ENST00000371953.7:c.916A>C ENSP00000361021.3:p.Ile306Leu
ENST00000472832.2:c.343A>C ENSP00000483066.1:p.Ile115Leu
NM_000314.5:c.916A>C NP_000305.3:p.Ile306Leu
NM_000314.6:c.916A>C NP_000305.3:p.Ile306Leu
NM_001304717.2:c.1435A>C NP_001291646.2:p.Ile479Leu
NM_001304718.1:c.325A>C NP_001291647.1:p.Ile109Leu
XM_006717926.2:c.871A>C XP_006717989.1:p.Ile291Leu
XM_011539981.1:c.916A>C XP_011538283.1:p.Ile306Leu
XM_011539982.1:c.820A>C XP_011538284.1:p.Ile274Leu
XR_945791.1:n.1486A>C
NM_000314.7:c.916A>C NP_000305.3:p.Ile306Leu
NM_001304717.5:c.1435A>C NP_001291646.4:p.Ile479Leu
NM_001304718.2:c.325A>C NP_001291647.1:p.Ile109Leu
NM_000314.8:c.916A>C MANE Select NP_000305.3:p.Ile306Leu