Canonical Allele Identifier: CA377487369

Gene: PTEN

Linked Data

• MyVariant Identifiers: chr10:g.89725170T>G (hg19) ; chr10:g.87965413T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965413T>G , CM000672.2:g.87965413T>G	GRCh38
NC_000010.10:g.89725170T>G , CM000672.1:g.89725170T>G	GRCh37
NC_000010.9:g.89715150T>G	NCBI36
NG_007466.2:g.106975T>G , LRG_311:g.106975T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1246T>G	ENSP00000514759.2:p.Ser416Ala
ENST00000710265.1:c.*182T>G	ENSP00000518161.1:n.*182T>G
ENST00000688158.2:n.1888T>G
ENST00000688922.2:c.*983T>G	ENSP00000508742.2:n.*983T>G
ENST00000700021.1:c.1108T>G	ENSP00000514757.1:p.Ser370Ala
ENST00000700022.1:c.*492T>G	ENSP00000514758.1:n.*492T>G
ENST00000700023.1:n.2311T>G
ENST00000700024.1:n.2545T>G
ENST00000706954.1:c.1153T>G	ENSP00000516674.1:p.Ser385Ala
ENST00000706955.1:c.*1188T>G	ENSP00000516675.1:n.*1188T>G
ENST00000686459.1:c.*739T>G	ENSP00000508909.1:n.*739T>G
ENST00000688158.1:c.*1264T>G	ENSP00000509254.1:n.*1264T>G
ENST00000688308.1:c.1153T>G	ENSP00000508752.1:p.Ser385Ala
ENST00000688922.1:c.1074T>G
ENST00000693560.1:c.1672T>G	ENSP00000509861.1:p.Ser558Ala
ENST00000371953.8:c.1153T>G MANE Select	ENSP00000361021.3:p.Ser385Ala
ENST00000371953.7:c.1153T>G	ENSP00000361021.3:p.Ser385Ala
NM_000314.5:c.1153T>G	NP_000305.3:p.Ser385Ala
NM_000314.6:c.1153T>G	NP_000305.3:p.Ser385Ala
NM_001304717.2:c.1672T>G	NP_001291646.2:p.Ser558Ala
NM_001304718.1:c.562T>G	NP_001291647.1:p.Ser188Ala
XM_006717926.2:c.1108T>G	XP_006717989.1:p.Ser370Ala
XM_011539982.1:c.1057T>G	XP_011538284.1:p.Ser353Ala
XR_945791.1:n.1723T>G
NM_000314.7:c.1153T>G	NP_000305.3:p.Ser385Ala
NM_001304717.5:c.1672T>G	NP_001291646.4:p.Ser558Ala
NM_001304718.2:c.562T>G	NP_001291647.1:p.Ser188Ala
NM_000314.8:c.1153T>G MANE Select	NP_000305.3:p.Ser385Ala