Canonical Allele Identifier: CA16606102
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 379501
dbSNP Id: rs1057520622

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933189A>T , CM000672.2:g.87933189A>T GRCh38
NC_000010.10:g.89692946A>T , CM000672.1:g.89692946A>T GRCh37
NC_000010.9:g.89682926A>T NCBI36
NG_007466.2:g.74751A>T , LRG_311:g.74751A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.430A>T ENSP00000514759.2:p.Lys144Ter
ENST00000710265.1:c.430A>T ENSP00000518161.1:p.Lys144Ter
ENST00000472832.3:c.430A>T ENSP00000483066.2:p.Lys144Ter
ENST00000688158.2:n.1165A>T
ENST00000688922.2:c.*260A>T ENSP00000508742.2:n.*260A>T
ENST00000700021.1:c.385A>T ENSP00000514757.1:p.Lys129Ter
ENST00000700022.1:c.430A>T ENSP00000514758.1:p.Lys144Ter
ENST00000700029.1:c.264A>T
ENST00000706954.1:c.430A>T ENSP00000516674.1:p.Lys144Ter
ENST00000706955.1:c.*465A>T ENSP00000516675.1:n.*465A>T
ENST00000686459.1:c.430A>T ENSP00000508909.1:p.Lys144Ter
ENST00000688158.1:c.*541A>T ENSP00000509254.1:n.*541A>T
ENST00000688308.1:c.430A>T ENSP00000508752.1:p.Lys144Ter
ENST00000688922.1:c.351A>T
ENST00000693560.1:c.949A>T ENSP00000509861.1:p.Lys317Ter
ENST00000371953.8:c.430A>T MANE Select ENSP00000361021.3:p.Lys144Ter
ENST00000371953.7:c.430A>T ENSP00000361021.3:p.Lys144Ter
ENST00000498703.1:n.256A>T
ENST00000610634.1:c.328A>T ENSP00000477517.1:p.Lys110Ter
NM_000314.5:c.430A>T NP_000305.3:p.Lys144Ter
NM_000314.6:c.430A>T NP_000305.3:p.Lys144Ter
NM_001304717.2:c.949A>T NP_001291646.2:p.Lys317Ter
NM_001304718.1:c.-321A>T NP_001291647.1:n.-321A>T
XM_006717926.2:c.385A>T XP_006717989.1:p.Lys129Ter
XM_011539981.1:c.430A>T XP_011538283.1:p.Lys144Ter
XM_011539982.1:c.334A>T XP_011538284.1:p.Lys112Ter
XR_945789.1:n.1142A>T
XR_945790.1:n.1142A>T
XR_945791.1:n.1142A>T
NM_000314.7:c.430A>T NP_000305.3:p.Lys144Ter
NM_001304717.5:c.949A>T NP_001291646.4:p.Lys317Ter
NM_001304718.2:c.-321A>T NP_001291647.1:n.-321A>T
NM_000314.8:c.430A>T MANE Select NP_000305.3:p.Lys144Ter