Canonical Allele Identifier: CA377487314
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965390A>C , CM000672.2:g.87965390A>C GRCh38
NC_000010.10:g.89725147A>C , CM000672.1:g.89725147A>C GRCh37
NC_000010.9:g.89715127A>C NCBI36
NG_007466.2:g.106952A>C , LRG_311:g.106952A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1223A>C ENSP00000514759.2:p.Tyr408Ser
ENST00000710265.1:c.*159A>C ENSP00000518161.1:n.*159A>C
ENST00000688158.2:n.1865A>C
ENST00000688922.2:c.*960A>C ENSP00000508742.2:n.*960A>C
ENST00000700021.1:c.1085A>C ENSP00000514757.1:p.Tyr362Ser
ENST00000700022.1:c.*469A>C ENSP00000514758.1:n.*469A>C
ENST00000700023.1:n.2288A>C
ENST00000700024.1:n.2522A>C
ENST00000706954.1:c.1130A>C ENSP00000516674.1:p.Tyr377Ser
ENST00000706955.1:c.*1165A>C ENSP00000516675.1:n.*1165A>C
ENST00000686459.1:c.*716A>C ENSP00000508909.1:n.*716A>C
ENST00000688158.1:c.*1241A>C ENSP00000509254.1:n.*1241A>C
ENST00000688308.1:c.1130A>C ENSP00000508752.1:p.Tyr377Ser
ENST00000688922.1:c.1051A>C
ENST00000693560.1:c.1649A>C ENSP00000509861.1:p.Tyr550Ser
ENST00000371953.8:c.1130A>C MANE Select ENSP00000361021.3:p.Tyr377Ser
ENST00000371953.7:c.1130A>C ENSP00000361021.3:p.Tyr377Ser
NM_000314.5:c.1130A>C NP_000305.3:p.Tyr377Ser
NM_000314.6:c.1130A>C NP_000305.3:p.Tyr377Ser
NM_001304717.2:c.1649A>C NP_001291646.2:p.Tyr550Ser
NM_001304718.1:c.539A>C NP_001291647.1:p.Tyr180Ser
XM_006717926.2:c.1085A>C XP_006717989.1:p.Tyr362Ser
XM_011539982.1:c.1034A>C XP_011538284.1:p.Tyr345Ser
XR_945791.1:n.1700A>C
NM_000314.7:c.1130A>C NP_000305.3:p.Tyr377Ser
NM_001304717.5:c.1649A>C NP_001291646.4:p.Tyr550Ser
NM_001304718.2:c.539A>C NP_001291647.1:p.Tyr180Ser
NM_000314.8:c.1130A>C MANE Select NP_000305.3:p.Tyr377Ser