Canonical Allele Identifier: CA377485086
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1860551372

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958007G>T , CM000672.2:g.87958007G>T GRCh38
NC_000010.10:g.89717764G>T , CM000672.1:g.89717764G>T GRCh37
NC_000010.9:g.89707744G>T NCBI36
NG_007466.2:g.99569G>T , LRG_311:g.99569G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.789G>T ENSP00000514759.2:p.Lys263Asn
ENST00000710265.1:c.789G>T ENSP00000518161.1:p.Lys263Asn
ENST00000472832.3:c.789G>T ENSP00000483066.2:p.Lys263Asn
ENST00000688158.2:n.1524G>T
ENST00000688922.2:c.*619G>T ENSP00000508742.2:n.*619G>T
ENST00000700021.1:c.744G>T ENSP00000514757.1:p.Lys248Asn
ENST00000700022.1:c.*128G>T ENSP00000514758.1:n.*128G>T
ENST00000700023.1:n.1947G>T
ENST00000700024.1:n.2181G>T
ENST00000700025.1:n.1558G>T
ENST00000700026.1:n.426G>T
ENST00000700029.1:c.623G>T
ENST00000706954.1:c.789G>T ENSP00000516674.1:p.Lys263Asn
ENST00000706955.1:c.*824G>T ENSP00000516675.1:n.*824G>T
ENST00000686459.1:c.*375G>T ENSP00000508909.1:n.*375G>T
ENST00000688158.1:c.*900G>T ENSP00000509254.1:n.*900G>T
ENST00000688308.1:c.789G>T ENSP00000508752.1:p.Lys263Asn
ENST00000688922.1:c.710G>T
ENST00000693560.1:c.1308G>T ENSP00000509861.1:p.Lys436Asn
ENST00000371953.8:c.789G>T MANE Select ENSP00000361021.3:p.Lys263Asn
ENST00000371953.7:c.789G>T ENSP00000361021.3:p.Lys263Asn
ENST00000472832.2:c.216G>T ENSP00000483066.1:p.Lys72Asn
NM_000314.5:c.789G>T NP_000305.3:p.Lys263Asn
NM_000314.6:c.789G>T NP_000305.3:p.Lys263Asn
NM_001304717.2:c.1308G>T NP_001291646.2:p.Lys436Asn
NM_001304718.1:c.198G>T NP_001291647.1:p.Lys66Asn
XM_006717926.2:c.744G>T XP_006717989.1:p.Lys248Asn
XM_011539981.1:c.789G>T XP_011538283.1:p.Lys263Asn
XM_011539982.1:c.693G>T XP_011538284.1:p.Lys231Asn
XR_945791.1:n.1359G>T
NM_000314.7:c.789G>T NP_000305.3:p.Lys263Asn
NM_001304717.5:c.1308G>T NP_001291646.4:p.Lys436Asn
NM_001304718.2:c.198G>T NP_001291647.1:p.Lys66Asn
NM_000314.8:c.789G>T MANE Select NP_000305.3:p.Lys263Asn