Canonical Allele Identifier: CA377484626
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132269808

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952233T>A , CM000672.2:g.87952233T>A GRCh38
NC_000010.10:g.89711990T>A , CM000672.1:g.89711990T>A GRCh37
NC_000010.9:g.89701970T>A NCBI36
NG_007466.2:g.93795T>A , LRG_311:g.93795T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.608T>A ENSP00000514759.2:p.Ile203Asn
ENST00000710265.1:c.608T>A ENSP00000518161.1:p.Ile203Asn
ENST00000472832.3:c.608T>A ENSP00000483066.2:p.Ile203Asn
ENST00000688158.2:n.1343T>A
ENST00000688922.2:c.*438T>A ENSP00000508742.2:n.*438T>A
ENST00000700021.1:c.563T>A ENSP00000514757.1:p.Ile188Asn
ENST00000700022.1:c.493-5620T>A ENSP00000514758.1:n.493-5620T>A
ENST00000700023.1:n.1766T>A
ENST00000700024.1:n.2000T>A
ENST00000700025.1:n.1377T>A
ENST00000700029.1:c.442T>A
ENST00000706954.1:c.608T>A ENSP00000516674.1:p.Ile203Asn
ENST00000706955.1:c.*643T>A ENSP00000516675.1:n.*643T>A
ENST00000686459.1:c.*194T>A ENSP00000508909.1:n.*194T>A
ENST00000688158.1:c.*719T>A ENSP00000509254.1:n.*719T>A
ENST00000688308.1:c.608T>A ENSP00000508752.1:p.Ile203Asn
ENST00000688922.1:c.529T>A
ENST00000693560.1:c.1127T>A ENSP00000509861.1:p.Ile376Asn
ENST00000371953.8:c.608T>A MANE Select ENSP00000361021.3:p.Ile203Asn
ENST00000371953.7:c.608T>A ENSP00000361021.3:p.Ile203Asn
ENST00000472832.2:c.35T>A ENSP00000483066.1:p.Ile12Asn
NM_000314.5:c.608T>A NP_000305.3:p.Ile203Asn
NM_000314.6:c.608T>A NP_000305.3:p.Ile203Asn
NM_001304717.2:c.1127T>A NP_001291646.2:p.Ile376Asn
NM_001304718.1:c.17T>A NP_001291647.1:p.Ile6Asn
XM_006717926.2:c.563T>A XP_006717989.1:p.Ile188Asn
XM_011539981.1:c.608T>A XP_011538283.1:p.Ile203Asn
XM_011539982.1:c.512T>A XP_011538284.1:p.Ile171Asn
XR_945791.1:n.1205-5620T>A
NM_000314.7:c.608T>A NP_000305.3:p.Ile203Asn
NM_001304717.5:c.1127T>A NP_001291646.4:p.Ile376Asn
NM_001304718.2:c.17T>A NP_001291647.1:p.Ile6Asn
NM_000314.8:c.608T>A MANE Select NP_000305.3:p.Ile203Asn