Canonical Allele Identifier: CA377485464
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1114167648

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960907A>T , CM000672.2:g.87960907A>T GRCh38
NC_000010.10:g.89720664A>T , CM000672.1:g.89720664A>T GRCh37
NC_000010.9:g.89710644A>T NCBI36
NG_007466.2:g.102469A>T , LRG_311:g.102469A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.908A>T ENSP00000514759.2:p.His303Leu
ENST00000710265.1:c.815A>T ENSP00000518161.1:p.His272Leu
ENST00000472832.3:c.815A>T ENSP00000483066.2:p.His272Leu
ENST00000688158.2:n.1550A>T
ENST00000688922.2:c.*645A>T ENSP00000508742.2:n.*645A>T
ENST00000700021.1:c.770A>T ENSP00000514757.1:p.His257Leu
ENST00000700022.1:c.*154A>T ENSP00000514758.1:n.*154A>T
ENST00000700023.1:n.1973A>T
ENST00000700024.1:n.2207A>T
ENST00000700025.1:n.1584A>T
ENST00000700026.1:n.452A>T
ENST00000700029.1:c.742A>T
ENST00000706954.1:c.815A>T ENSP00000516674.1:p.His272Leu
ENST00000706955.1:c.*850A>T ENSP00000516675.1:n.*850A>T
ENST00000686459.1:c.*401A>T ENSP00000508909.1:n.*401A>T
ENST00000688158.1:c.*926A>T ENSP00000509254.1:n.*926A>T
ENST00000688308.1:c.815A>T ENSP00000508752.1:p.His272Leu
ENST00000688922.1:c.736A>T
ENST00000693560.1:c.1334A>T ENSP00000509861.1:p.His445Leu
ENST00000371953.8:c.815A>T MANE Select ENSP00000361021.3:p.His272Leu
ENST00000371953.7:c.815A>T ENSP00000361021.3:p.His272Leu
ENST00000472832.2:c.242A>T ENSP00000483066.1:p.His81Leu
NM_000314.5:c.815A>T NP_000305.3:p.His272Leu
NM_000314.6:c.815A>T NP_000305.3:p.His272Leu
NM_001304717.2:c.1334A>T NP_001291646.2:p.His445Leu
NM_001304718.1:c.224A>T NP_001291647.1:p.His75Leu
XM_006717926.2:c.770A>T XP_006717989.1:p.His257Leu
XM_011539981.1:c.815A>T XP_011538283.1:p.His272Leu
XM_011539982.1:c.719A>T XP_011538284.1:p.His240Leu
XR_945791.1:n.1385A>T
NM_000314.7:c.815A>T NP_000305.3:p.His272Leu
NM_001304717.5:c.1334A>T NP_001291646.4:p.His445Leu
NM_001304718.2:c.224A>T NP_001291647.1:p.His75Leu
NM_000314.8:c.815A>T MANE Select NP_000305.3:p.His272Leu