Canonical Allele Identifier: CA377485588
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 923099
dbSNP Id: rs1860619820

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960940C>T , CM000672.2:g.87960940C>T GRCh38
NC_000010.10:g.89720697C>T , CM000672.1:g.89720697C>T GRCh37
NC_000010.9:g.89710677C>T NCBI36
NG_007466.2:g.102502C>T , LRG_311:g.102502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.941C>T ENSP00000514759.2:p.Pro314Leu
ENST00000710265.1:c.848C>T ENSP00000518161.1:p.Pro283Leu
ENST00000472832.3:c.848C>T ENSP00000483066.2:p.Pro283Leu
ENST00000688158.2:n.1583C>T
ENST00000688922.2:c.*678C>T ENSP00000508742.2:n.*678C>T
ENST00000700021.1:c.803C>T ENSP00000514757.1:p.Pro268Leu
ENST00000700022.1:c.*187C>T ENSP00000514758.1:n.*187C>T
ENST00000700023.1:n.2006C>T
ENST00000700024.1:n.2240C>T
ENST00000700025.1:n.1617C>T
ENST00000700026.1:n.485C>T
ENST00000700029.1:c.775C>T
ENST00000706954.1:c.848C>T ENSP00000516674.1:p.Pro283Leu
ENST00000706955.1:c.*883C>T ENSP00000516675.1:n.*883C>T
ENST00000686459.1:c.*434C>T ENSP00000508909.1:n.*434C>T
ENST00000688158.1:c.*959C>T ENSP00000509254.1:n.*959C>T
ENST00000688308.1:c.848C>T ENSP00000508752.1:p.Pro283Leu
ENST00000688922.1:c.769C>T
ENST00000693560.1:c.1367C>T ENSP00000509861.1:p.Pro456Leu
ENST00000371953.8:c.848C>T MANE Select ENSP00000361021.3:p.Pro283Leu
ENST00000371953.7:c.848C>T ENSP00000361021.3:p.Pro283Leu
ENST00000472832.2:c.275C>T ENSP00000483066.1:p.Pro92Leu
NM_000314.5:c.848C>T NP_000305.3:p.Pro283Leu
NM_000314.6:c.848C>T NP_000305.3:p.Pro283Leu
NM_001304717.2:c.1367C>T NP_001291646.2:p.Pro456Leu
NM_001304718.1:c.257C>T NP_001291647.1:p.Pro86Leu
XM_006717926.2:c.803C>T XP_006717989.1:p.Pro268Leu
XM_011539981.1:c.848C>T XP_011538283.1:p.Pro283Leu
XM_011539982.1:c.752C>T XP_011538284.1:p.Pro251Leu
XR_945791.1:n.1418C>T
NM_000314.7:c.848C>T NP_000305.3:p.Pro283Leu
NM_001304717.5:c.1367C>T NP_001291646.4:p.Pro456Leu
NM_001304718.2:c.257C>T NP_001291647.1:p.Pro86Leu
NM_000314.8:c.848C>T MANE Select NP_000305.3:p.Pro283Leu