Canonical Allele Identifier: CA377484805
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957879A>C , CM000672.2:g.87957879A>C GRCh38
NC_000010.10:g.89717636A>C , CM000672.1:g.89717636A>C GRCh37
NC_000010.9:g.89707616A>C NCBI36
NG_007466.2:g.99441A>C , LRG_311:g.99441A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.661A>C ENSP00000514759.2:p.Lys221Gln
ENST00000710265.1:c.661A>C ENSP00000518161.1:p.Lys221Gln
ENST00000472832.3:c.661A>C ENSP00000483066.2:p.Lys221Gln
ENST00000688158.2:n.1396A>C
ENST00000688922.2:c.*491A>C ENSP00000508742.2:n.*491A>C
ENST00000700021.1:c.616A>C ENSP00000514757.1:p.Lys206Gln
ENST00000700022.1:c.519A>C ENSP00000514758.1:p.Ter173Tyr
ENST00000700023.1:n.1819A>C
ENST00000700024.1:n.2053A>C
ENST00000700025.1:n.1430A>C
ENST00000700026.1:n.298A>C
ENST00000700029.1:c.495A>C
ENST00000706954.1:c.661A>C ENSP00000516674.1:p.Lys221Gln
ENST00000706955.1:c.*696A>C ENSP00000516675.1:n.*696A>C
ENST00000686459.1:c.*247A>C ENSP00000508909.1:n.*247A>C
ENST00000688158.1:c.*772A>C ENSP00000509254.1:n.*772A>C
ENST00000688308.1:c.661A>C ENSP00000508752.1:p.Lys221Gln
ENST00000688922.1:c.582A>C
ENST00000693560.1:c.1180A>C ENSP00000509861.1:p.Lys394Gln
ENST00000371953.8:c.661A>C MANE Select ENSP00000361021.3:p.Lys221Gln
ENST00000371953.7:c.661A>C ENSP00000361021.3:p.Lys221Gln
ENST00000472832.2:c.88A>C ENSP00000483066.1:p.Lys30Gln
NM_000314.5:c.661A>C NP_000305.3:p.Lys221Gln
NM_000314.6:c.661A>C NP_000305.3:p.Lys221Gln
NM_001304717.2:c.1180A>C NP_001291646.2:p.Lys394Gln
NM_001304718.1:c.70A>C NP_001291647.1:p.Lys24Gln
XM_006717926.2:c.616A>C XP_006717989.1:p.Lys206Gln
XM_011539981.1:c.661A>C XP_011538283.1:p.Lys221Gln
XM_011539982.1:c.565A>C XP_011538284.1:p.Lys189Gln
XR_945791.1:n.1231A>C
NM_000314.7:c.661A>C NP_000305.3:p.Lys221Gln
NM_001304717.5:c.1180A>C NP_001291646.4:p.Lys394Gln
NM_001304718.2:c.70A>C NP_001291647.1:p.Lys24Gln
NM_000314.8:c.661A>C MANE Select NP_000305.3:p.Lys221Gln