Canonical Allele Identifier: CA377485016
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 428207
dbSNP Id: rs1114167633

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957979A>C , CM000672.2:g.87957979A>C GRCh38
NC_000010.10:g.89717736A>C , CM000672.1:g.89717736A>C GRCh37
NC_000010.9:g.89707716A>C NCBI36
NG_007466.2:g.99541A>C , LRG_311:g.99541A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.761A>C ENSP00000514759.2:p.Lys254Thr
ENST00000710265.1:c.761A>C ENSP00000518161.1:p.Lys254Thr
ENST00000472832.3:c.761A>C ENSP00000483066.2:p.Lys254Thr
ENST00000688158.2:n.1496A>C
ENST00000688922.2:c.*591A>C ENSP00000508742.2:n.*591A>C
ENST00000700021.1:c.716A>C ENSP00000514757.1:p.Lys239Thr
ENST00000700022.1:c.*100A>C ENSP00000514758.1:n.*100A>C
ENST00000700023.1:n.1919A>C
ENST00000700024.1:n.2153A>C
ENST00000700025.1:n.1530A>C
ENST00000700026.1:n.398A>C
ENST00000700029.1:c.595A>C
ENST00000706954.1:c.761A>C ENSP00000516674.1:p.Lys254Thr
ENST00000706955.1:c.*796A>C ENSP00000516675.1:n.*796A>C
ENST00000686459.1:c.*347A>C ENSP00000508909.1:n.*347A>C
ENST00000688158.1:c.*872A>C ENSP00000509254.1:n.*872A>C
ENST00000688308.1:c.761A>C ENSP00000508752.1:p.Lys254Thr
ENST00000688922.1:c.682A>C
ENST00000693560.1:c.1280A>C ENSP00000509861.1:p.Lys427Thr
ENST00000371953.8:c.761A>C MANE Select ENSP00000361021.3:p.Lys254Thr
ENST00000371953.7:c.761A>C ENSP00000361021.3:p.Lys254Thr
ENST00000472832.2:c.188A>C ENSP00000483066.1:p.Lys63Thr
NM_000314.5:c.761A>C NP_000305.3:p.Lys254Thr
NM_000314.6:c.761A>C NP_000305.3:p.Lys254Thr
NM_001304717.2:c.1280A>C NP_001291646.2:p.Lys427Thr
NM_001304718.1:c.170A>C NP_001291647.1:p.Lys57Thr
XM_006717926.2:c.716A>C XP_006717989.1:p.Lys239Thr
XM_011539981.1:c.761A>C XP_011538283.1:p.Lys254Thr
XM_011539982.1:c.665A>C XP_011538284.1:p.Lys222Thr
XR_945791.1:n.1331A>C
NM_000314.7:c.761A>C NP_000305.3:p.Lys254Thr
NM_001304717.5:c.1280A>C NP_001291646.4:p.Lys427Thr
NM_001304718.2:c.170A>C NP_001291647.1:p.Lys57Thr
NM_000314.8:c.761A>C MANE Select NP_000305.3:p.Lys254Thr