Canonical Allele Identifier: CA377485079
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958005A>C , CM000672.2:g.87958005A>C GRCh38
NC_000010.10:g.89717762A>C , CM000672.1:g.89717762A>C GRCh37
NC_000010.9:g.89707742A>C NCBI36
NG_007466.2:g.99567A>C , LRG_311:g.99567A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.787A>C ENSP00000514759.2:p.Lys263Gln
ENST00000710265.1:c.787A>C ENSP00000518161.1:p.Lys263Gln
ENST00000472832.3:c.787A>C ENSP00000483066.2:p.Lys263Gln
ENST00000688158.2:n.1522A>C
ENST00000688922.2:c.*617A>C ENSP00000508742.2:n.*617A>C
ENST00000700021.1:c.742A>C ENSP00000514757.1:p.Lys248Gln
ENST00000700022.1:c.*126A>C ENSP00000514758.1:n.*126A>C
ENST00000700023.1:n.1945A>C
ENST00000700024.1:n.2179A>C
ENST00000700025.1:n.1556A>C
ENST00000700026.1:n.424A>C
ENST00000700029.1:c.621A>C
ENST00000706954.1:c.787A>C ENSP00000516674.1:p.Lys263Gln
ENST00000706955.1:c.*822A>C ENSP00000516675.1:n.*822A>C
ENST00000686459.1:c.*373A>C ENSP00000508909.1:n.*373A>C
ENST00000688158.1:c.*898A>C ENSP00000509254.1:n.*898A>C
ENST00000688308.1:c.787A>C ENSP00000508752.1:p.Lys263Gln
ENST00000688922.1:c.708A>C
ENST00000693560.1:c.1306A>C ENSP00000509861.1:p.Lys436Gln
ENST00000371953.8:c.787A>C MANE Select ENSP00000361021.3:p.Lys263Gln
ENST00000371953.7:c.787A>C ENSP00000361021.3:p.Lys263Gln
ENST00000472832.2:c.214A>C ENSP00000483066.1:p.Lys72Gln
NM_000314.5:c.787A>C NP_000305.3:p.Lys263Gln
NM_000314.6:c.787A>C NP_000305.3:p.Lys263Gln
NM_001304717.2:c.1306A>C NP_001291646.2:p.Lys436Gln
NM_001304718.1:c.196A>C NP_001291647.1:p.Lys66Gln
XM_006717926.2:c.742A>C XP_006717989.1:p.Lys248Gln
XM_011539981.1:c.787A>C XP_011538283.1:p.Lys263Gln
XM_011539982.1:c.691A>C XP_011538284.1:p.Lys231Gln
XR_945791.1:n.1357A>C
NM_000314.7:c.787A>C NP_000305.3:p.Lys263Gln
NM_001304717.5:c.1306A>C NP_001291646.4:p.Lys436Gln
NM_001304718.2:c.196A>C NP_001291647.1:p.Lys66Gln
NM_000314.8:c.787A>C MANE Select NP_000305.3:p.Lys263Gln