Canonical Allele Identifier: CA2610045527
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87925598T>C , CM000672.2:g.87925598T>C GRCh38
NC_000010.10:g.89685355T>C , CM000672.1:g.89685355T>C GRCh37
NC_000010.9:g.89675335T>C NCBI36
NG_007466.2:g.67160T>C , LRG_311:g.67160T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.209+41T>C ENSP00000514759.2:n.209+41T>C
ENST00000710265.1:c.209+41T>C ENSP00000518161.1:n.209+41T>C
ENST00000472832.3:c.209+41T>C ENSP00000483066.2:n.209+41T>C
ENST00000688158.2:n.944+41T>C
ENST00000688922.2:c.209+41T>C ENSP00000508742.2:n.209+41T>C
ENST00000700021.1:c.165-5448T>C ENSP00000514757.1:n.165-5448T>C
ENST00000700022.1:c.209+41T>C ENSP00000514758.1:n.209+41T>C
ENST00000700029.1:c.43+41T>C
ENST00000706954.1:c.209+41T>C ENSP00000516674.1:n.209+41T>C
ENST00000706955.1:c.*244+41T>C ENSP00000516675.1:n.*244+41T>C
ENST00000686459.1:c.209+41T>C ENSP00000508909.1:n.209+41T>C
ENST00000688158.1:c.*320+41T>C ENSP00000509254.1:n.*320+41T>C
ENST00000688308.1:c.209+41T>C ENSP00000508752.1:n.209+41T>C
ENST00000688922.1:c.78+41T>C
ENST00000693560.1:c.728+41T>C ENSP00000509861.1:n.728+41T>C
ENST00000371953.8:c.209+41T>C MANE Select ENSP00000361021.3:n.209+41T>C
ENST00000371953.7:c.209+41T>C ENSP00000361021.3:n.209+41T>C
ENST00000498703.1:n.35+41T>C
ENST00000610634.1:c.107+41T>C ENSP00000477517.1:n.107+41T>C
NM_000314.5:c.209+41T>C NP_000305.3:n.209+41T>C
NM_000314.6:c.209+41T>C NP_000305.3:n.209+41T>C
NM_001304717.2:c.728+41T>C NP_001291646.2:n.728+41T>C
NM_001304718.1:c.-541-5448T>C NP_001291647.1:n.-541-5448T>C
XM_006717926.2:c.165-5448T>C XP_006717989.1:n.165-5448T>C
XM_011539981.1:c.209+41T>C XP_011538283.1:n.209+41T>C
XM_011539982.1:c.113+41T>C XP_011538284.1:n.113+41T>C
XR_945789.1:n.921+41T>C
XR_945790.1:n.921+41T>C
XR_945791.1:n.921+41T>C
NM_000314.7:c.209+41T>C NP_000305.3:n.209+41T>C
NM_001304717.5:c.728+41T>C NP_001291646.4:n.728+41T>C
NM_001304718.2:c.-541-5448T>C NP_001291647.1:n.-541-5448T>C
NM_000314.8:c.209+41T>C MANE Select NP_000305.3:n.209+41T>C