Canonical Allele Identifier: CA377487235

Gene: PTEN

Linked Data

• ClinVar Variation Id: 576100
• ClinVar RCV Id: RCV000698513
• dbSNP Id: rs1564570409
• MyVariant Identifiers: chr10:g.89725113A>G (hg19) ; chr10:g.87965356A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965356A>G , CM000672.2:g.87965356A>G	GRCh38
NC_000010.10:g.89725113A>G , CM000672.1:g.89725113A>G	GRCh37
NC_000010.9:g.89715093A>G	NCBI36
NG_007466.2:g.106918A>G , LRG_311:g.106918A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1189A>G	ENSP00000514759.2:p.Thr397Ala
ENST00000710265.1:c.*125A>G	ENSP00000518161.1:n.*125A>G
ENST00000688158.2:n.1831A>G
ENST00000688922.2:c.*926A>G	ENSP00000508742.2:n.*926A>G
ENST00000700021.1:c.1051A>G	ENSP00000514757.1:p.Thr351Ala
ENST00000700022.1:c.*435A>G	ENSP00000514758.1:n.*435A>G
ENST00000700023.1:n.2254A>G
ENST00000700024.1:n.2488A>G
ENST00000706954.1:c.1096A>G	ENSP00000516674.1:p.Thr366Ala
ENST00000706955.1:c.*1131A>G	ENSP00000516675.1:n.*1131A>G
ENST00000686459.1:c.*682A>G	ENSP00000508909.1:n.*682A>G
ENST00000688158.1:c.*1207A>G	ENSP00000509254.1:n.*1207A>G
ENST00000688308.1:c.1096A>G	ENSP00000508752.1:p.Thr366Ala
ENST00000688922.1:c.1017A>G
ENST00000693560.1:c.1615A>G	ENSP00000509861.1:p.Thr539Ala
ENST00000371953.8:c.1096A>G MANE Select	ENSP00000361021.3:p.Thr366Ala
ENST00000371953.7:c.1096A>G	ENSP00000361021.3:p.Thr366Ala
NM_000314.5:c.1096A>G	NP_000305.3:p.Thr366Ala
NM_000314.6:c.1096A>G	NP_000305.3:p.Thr366Ala
NM_001304717.2:c.1615A>G	NP_001291646.2:p.Thr539Ala
NM_001304718.1:c.505A>G	NP_001291647.1:p.Thr169Ala
XM_006717926.2:c.1051A>G	XP_006717989.1:p.Thr351Ala
XM_011539982.1:c.1000A>G	XP_011538284.1:p.Thr334Ala
XR_945791.1:n.1666A>G
NM_000314.7:c.1096A>G	NP_000305.3:p.Thr366Ala
NM_001304717.5:c.1615A>G	NP_001291646.4:p.Thr539Ala
NM_001304718.2:c.505A>G	NP_001291647.1:p.Thr169Ala
NM_000314.8:c.1096A>G MANE Select	NP_000305.3:p.Thr366Ala