Canonical Allele Identifier: CA1926175756
Community Standard Title: NM_000314.8(PTEN):c.430A= (p.Lys144=)
Gene: PTEN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.430A= MANE Select NP_000305.3:p.Lys144=
ENST00000371953.8:c.430A= MANE Select ENSP00000361021.3:p.Lys144=
NM_000314.5:c.430A= NP_000305.3:p.Lys144=
NM_000314.6:c.430A= NP_000305.3:p.Lys144=
NM_000314.7:c.430A= NP_000305.3:p.Lys144=
NM_001304717.2:c.949A= NP_001291646.2:p.Lys317=
NM_001304717.5:c.949A= NP_001291646.4:p.Lys317=
NM_001304718.1:c.-321A= NP_001291647.1:n.-321A=
NM_001304718.2:c.-321A= NP_001291647.1:n.-321A=
ENST00000371953.7:c.430A= ENSP00000361021.3:p.Lys144=
ENST00000472832.3:c.430A= ENSP00000483066.2:p.Lys144=
ENST00000498703.1:n.256A=
ENST00000610634.1:c.328A= ENSP00000477517.1:p.Lys110=
ENST00000686459.1:c.430A= ENSP00000508909.1:p.Lys144=
ENST00000688158.1:c.*541A= ENSP00000509254.1:n.*541A=
ENST00000688158.2:n.1165A=
ENST00000688308.1:c.430A= ENSP00000508752.1:p.Lys144=
ENST00000688922.1:c.351A=
ENST00000688922.2:c.*260A= ENSP00000508742.2:n.*260A=
ENST00000693560.1:c.949A= ENSP00000509861.1:p.Lys317=
ENST00000700021.1:c.385A= ENSP00000514757.1:p.Lys129=
ENST00000700022.1:c.430A= ENSP00000514758.1:p.Lys144=
ENST00000700029.1:c.264A=
ENST00000700029.2:c.430A= ENSP00000514759.2:p.Lys144=
ENST00000706954.1:c.430A= ENSP00000516674.1:p.Lys144=
ENST00000706955.1:c.*465A= ENSP00000516675.1:n.*465A=
ENST00000710265.1:c.430A= ENSP00000518161.1:p.Lys144=
XM_006717926.2:c.385A= XP_006717989.1:p.Lys129=
XM_011539981.1:c.430A= XP_011538283.1:p.Lys144=
XM_011539982.1:c.334A= XP_011538284.1:p.Lys112=
XR_945789.1:n.1142A=
XR_945790.1:n.1142A=
XR_945791.1:n.1142A=