Canonical Allele Identifier: CA377487426
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 841411
ClinVar RCV Id: RCV001043623
dbSNP Id: rs1860739011

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965437G>T , CM000672.2:g.87965437G>T GRCh38
NC_000010.10:g.89725194G>T , CM000672.1:g.89725194G>T GRCh37
NC_000010.9:g.89715174G>T NCBI36
NG_007466.2:g.106999G>T , LRG_311:g.106999G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1270G>T ENSP00000514759.2:p.Asp424Tyr
ENST00000710265.1:c.*206G>T ENSP00000518161.1:n.*206G>T
ENST00000688158.2:n.1912G>T
ENST00000688922.2:c.*1007G>T ENSP00000508742.2:n.*1007G>T
ENST00000700021.1:c.1132G>T ENSP00000514757.1:p.Asp378Tyr
ENST00000700022.1:c.*516G>T ENSP00000514758.1:n.*516G>T
ENST00000700023.1:n.2335G>T
ENST00000700024.1:n.2569G>T
ENST00000706954.1:c.1177G>T ENSP00000516674.1:p.Asp393Tyr
ENST00000706955.1:c.*1212G>T ENSP00000516675.1:n.*1212G>T
ENST00000686459.1:c.*763G>T ENSP00000508909.1:n.*763G>T
ENST00000688158.1:c.*1288G>T ENSP00000509254.1:n.*1288G>T
ENST00000688308.1:c.1177G>T ENSP00000508752.1:p.Asp393Tyr
ENST00000688922.1:c.1098G>T
ENST00000693560.1:c.1696G>T ENSP00000509861.1:p.Asp566Tyr
ENST00000371953.8:c.1177G>T MANE Select ENSP00000361021.3:p.Asp393Tyr
ENST00000371953.7:c.1177G>T ENSP00000361021.3:p.Asp393Tyr
NM_000314.5:c.1177G>T NP_000305.3:p.Asp393Tyr
NM_000314.6:c.1177G>T NP_000305.3:p.Asp393Tyr
NM_001304717.2:c.1696G>T NP_001291646.2:p.Asp566Tyr
NM_001304718.1:c.586G>T NP_001291647.1:p.Asp196Tyr
XM_006717926.2:c.1132G>T XP_006717989.1:p.Asp378Tyr
XM_011539982.1:c.1081G>T XP_011538284.1:p.Asp361Tyr
XR_945791.1:n.1747G>T
NM_000314.7:c.1177G>T NP_000305.3:p.Asp393Tyr
NM_001304717.5:c.1696G>T NP_001291646.4:p.Asp566Tyr
NM_001304718.2:c.586G>T NP_001291647.1:p.Asp196Tyr
NM_000314.8:c.1177G>T MANE Select NP_000305.3:p.Asp393Tyr