Canonical Allele Identifier: CA377484297
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1860417198

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952141G>C , CM000672.2:g.87952141G>C GRCh38
NC_000010.10:g.89711898G>C , CM000672.1:g.89711898G>C GRCh37
NC_000010.9:g.89701878G>C NCBI36
NG_007466.2:g.93703G>C , LRG_311:g.93703G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.516G>C ENSP00000514759.2:p.Arg172Ser
ENST00000710265.1:c.516G>C ENSP00000518161.1:p.Arg172Ser
ENST00000472832.3:c.516G>C ENSP00000483066.2:p.Arg172Ser
ENST00000688158.2:n.1251G>C
ENST00000688922.2:c.*346G>C ENSP00000508742.2:n.*346G>C
ENST00000700021.1:c.471G>C ENSP00000514757.1:p.Arg157Ser
ENST00000700022.1:c.493-5712G>C ENSP00000514758.1:n.493-5712G>C
ENST00000700023.1:n.1674G>C
ENST00000700024.1:n.1908G>C
ENST00000700025.1:n.1285G>C
ENST00000700029.1:c.350G>C
ENST00000706954.1:c.516G>C ENSP00000516674.1:p.Arg172Ser
ENST00000706955.1:c.*551G>C ENSP00000516675.1:n.*551G>C
ENST00000686459.1:c.*102G>C ENSP00000508909.1:n.*102G>C
ENST00000688158.1:c.*627G>C ENSP00000509254.1:n.*627G>C
ENST00000688308.1:c.516G>C ENSP00000508752.1:p.Arg172Ser
ENST00000688922.1:c.437G>C
ENST00000693560.1:c.1035G>C ENSP00000509861.1:p.Arg345Ser
ENST00000371953.8:c.516G>C MANE Select ENSP00000361021.3:p.Arg172Ser
ENST00000371953.7:c.516G>C ENSP00000361021.3:p.Arg172Ser
NM_000314.5:c.516G>C NP_000305.3:p.Arg172Ser
NM_000314.6:c.516G>C NP_000305.3:p.Arg172Ser
NM_001304717.2:c.1035G>C NP_001291646.2:p.Arg345Ser
NM_001304718.1:c.-76G>C NP_001291647.1:n.-76G>C
XM_006717926.2:c.471G>C XP_006717989.1:p.Arg157Ser
XM_011539981.1:c.516G>C XP_011538283.1:p.Arg172Ser
XM_011539982.1:c.420G>C XP_011538284.1:p.Arg140Ser
XR_945789.1:n.1387G>C
XR_945790.1:n.1504G>C
XR_945791.1:n.1205-5712G>C
NM_000314.7:c.516G>C NP_000305.3:p.Arg172Ser
NM_001304717.5:c.1035G>C NP_001291646.4:p.Arg345Ser
NM_001304718.2:c.-76G>C NP_001291647.1:n.-76G>C
NM_000314.8:c.516G>C MANE Select NP_000305.3:p.Arg172Ser