Canonical Allele Identifier: CA16042804
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 373667
dbSNP Id: rs1057518538

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957952A>C , CM000672.2:g.87957952A>C GRCh38
NC_000010.10:g.89717709A>C , CM000672.1:g.89717709A>C GRCh37
NC_000010.9:g.89707689A>C NCBI36
NG_007466.2:g.99514A>C , LRG_311:g.99514A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.734A>C ENSP00000514759.2:p.Gln245Pro
ENST00000710265.1:c.734A>C ENSP00000518161.1:p.Gln245Pro
ENST00000472832.3:c.734A>C ENSP00000483066.2:p.Gln245Pro
ENST00000688158.2:n.1469A>C
ENST00000688922.2:c.*564A>C ENSP00000508742.2:n.*564A>C
ENST00000700021.1:c.689A>C ENSP00000514757.1:p.Gln230Pro
ENST00000700022.1:c.*73A>C ENSP00000514758.1:n.*73A>C
ENST00000700023.1:n.1892A>C
ENST00000700024.1:n.2126A>C
ENST00000700025.1:n.1503A>C
ENST00000700026.1:n.371A>C
ENST00000700029.1:c.568A>C
ENST00000706954.1:c.734A>C ENSP00000516674.1:p.Gln245Pro
ENST00000706955.1:c.*769A>C ENSP00000516675.1:n.*769A>C
ENST00000686459.1:c.*320A>C ENSP00000508909.1:n.*320A>C
ENST00000688158.1:c.*845A>C ENSP00000509254.1:n.*845A>C
ENST00000688308.1:c.734A>C ENSP00000508752.1:p.Gln245Pro
ENST00000688922.1:c.655A>C
ENST00000693560.1:c.1253A>C ENSP00000509861.1:p.Gln418Pro
ENST00000371953.8:c.734A>C MANE Select ENSP00000361021.3:p.Gln245Pro
ENST00000371953.7:c.734A>C ENSP00000361021.3:p.Gln245Pro
ENST00000472832.2:c.161A>C ENSP00000483066.1:p.Gln54Pro
NM_000314.5:c.734A>C NP_000305.3:p.Gln245Pro
NM_000314.6:c.734A>C NP_000305.3:p.Gln245Pro
NM_001304717.2:c.1253A>C NP_001291646.2:p.Gln418Pro
NM_001304718.1:c.143A>C NP_001291647.1:p.Gln48Pro
XM_006717926.2:c.689A>C XP_006717989.1:p.Gln230Pro
XM_011539981.1:c.734A>C XP_011538283.1:p.Gln245Pro
XM_011539982.1:c.638A>C XP_011538284.1:p.Gln213Pro
XR_945791.1:n.1304A>C
NM_000314.7:c.734A>C NP_000305.3:p.Gln245Pro
NM_001304717.5:c.1253A>C NP_001291646.4:p.Gln418Pro
NM_001304718.2:c.143A>C NP_001291647.1:p.Gln48Pro
NM_000314.8:c.734A>C MANE Select NP_000305.3:p.Gln245Pro