Canonical Allele Identifier: CA377486074
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132283353

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961074G>C , CM000672.2:g.87961074G>C GRCh38
NC_000010.10:g.89720831G>C , CM000672.1:g.89720831G>C GRCh37
NC_000010.9:g.89710811G>C NCBI36
NG_007466.2:g.102636G>C , LRG_311:g.102636G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1075G>C ENSP00000514759.2:p.Ala359Pro
ENST00000710265.1:c.982G>C ENSP00000518161.1:p.Ala328Pro
ENST00000472832.3:c.982G>C ENSP00000483066.2:p.Ala328Pro
ENST00000688158.2:n.1717G>C
ENST00000688922.2:c.*812G>C ENSP00000508742.2:n.*812G>C
ENST00000700021.1:c.937G>C ENSP00000514757.1:p.Ala313Pro
ENST00000700022.1:c.*321G>C ENSP00000514758.1:n.*321G>C
ENST00000700023.1:n.2140G>C
ENST00000700024.1:n.2374G>C
ENST00000700025.1:n.1751G>C
ENST00000700026.1:n.619G>C
ENST00000706954.1:c.982G>C ENSP00000516674.1:p.Ala328Pro
ENST00000706955.1:c.*1017G>C ENSP00000516675.1:n.*1017G>C
ENST00000686459.1:c.*568G>C ENSP00000508909.1:n.*568G>C
ENST00000688158.1:c.*1093G>C ENSP00000509254.1:n.*1093G>C
ENST00000688308.1:c.982G>C ENSP00000508752.1:p.Ala328Pro
ENST00000688922.1:c.903G>C
ENST00000693560.1:c.1501G>C ENSP00000509861.1:p.Ala501Pro
ENST00000371953.8:c.982G>C MANE Select ENSP00000361021.3:p.Ala328Pro
ENST00000371953.7:c.982G>C ENSP00000361021.3:p.Ala328Pro
ENST00000472832.2:c.409G>C ENSP00000483066.1:p.Ala137Pro
NM_000314.5:c.982G>C NP_000305.3:p.Ala328Pro
NM_000314.6:c.982G>C NP_000305.3:p.Ala328Pro
NM_001304717.2:c.1501G>C NP_001291646.2:p.Ala501Pro
NM_001304718.1:c.391G>C NP_001291647.1:p.Ala131Pro
XM_006717926.2:c.937G>C XP_006717989.1:p.Ala313Pro
XM_011539981.1:c.982G>C XP_011538283.1:p.Ala328Pro
XM_011539982.1:c.886G>C XP_011538284.1:p.Ala296Pro
XR_945791.1:n.1552G>C
NM_000314.7:c.982G>C NP_000305.3:p.Ala328Pro
NM_001304717.5:c.1501G>C NP_001291646.4:p.Ala501Pro
NM_001304718.2:c.391G>C NP_001291647.1:p.Ala131Pro
NM_000314.8:c.982G>C MANE Select NP_000305.3:p.Ala328Pro