Canonical Allele Identifier: CA377485986

Gene: PTEN

Linked Data

• gnomAD v4: 10-87961047-A-G
• MyVariant Identifiers: chr10:g.89720804A>G (hg19) ; chr10:g.87961047A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961047A>G , CM000672.2:g.87961047A>G	GRCh38
NC_000010.10:g.89720804A>G , CM000672.1:g.89720804A>G	GRCh37
NC_000010.9:g.89710784A>G	NCBI36
NG_007466.2:g.102609A>G , LRG_311:g.102609A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1048A>G	ENSP00000514759.2:p.Thr350Ala
ENST00000710265.1:c.955A>G	ENSP00000518161.1:p.Thr319Ala
ENST00000472832.3:c.955A>G	ENSP00000483066.2:p.Thr319Ala
ENST00000688158.2:n.1690A>G
ENST00000688922.2:c.*785A>G	ENSP00000508742.2:n.*785A>G
ENST00000700021.1:c.910A>G	ENSP00000514757.1:p.Thr304Ala
ENST00000700022.1:c.*294A>G	ENSP00000514758.1:n.*294A>G
ENST00000700023.1:n.2113A>G
ENST00000700024.1:n.2347A>G
ENST00000700025.1:n.1724A>G
ENST00000700026.1:n.592A>G
ENST00000706954.1:c.955A>G	ENSP00000516674.1:p.Thr319Ala
ENST00000706955.1:c.*990A>G	ENSP00000516675.1:n.*990A>G
ENST00000686459.1:c.*541A>G	ENSP00000508909.1:n.*541A>G
ENST00000688158.1:c.*1066A>G	ENSP00000509254.1:n.*1066A>G
ENST00000688308.1:c.955A>G	ENSP00000508752.1:p.Thr319Ala
ENST00000688922.1:c.876A>G
ENST00000693560.1:c.1474A>G	ENSP00000509861.1:p.Thr492Ala
ENST00000371953.8:c.955A>G MANE Select	ENSP00000361021.3:p.Thr319Ala
ENST00000371953.7:c.955A>G	ENSP00000361021.3:p.Thr319Ala
ENST00000472832.2:c.382A>G	ENSP00000483066.1:p.Thr128Ala
NM_000314.5:c.955A>G	NP_000305.3:p.Thr319Ala
NM_000314.6:c.955A>G	NP_000305.3:p.Thr319Ala
NM_001304717.2:c.1474A>G	NP_001291646.2:p.Thr492Ala
NM_001304718.1:c.364A>G	NP_001291647.1:p.Thr122Ala
XM_006717926.2:c.910A>G	XP_006717989.1:p.Thr304Ala
XM_011539981.1:c.955A>G	XP_011538283.1:p.Thr319Ala
XM_011539982.1:c.859A>G	XP_011538284.1:p.Thr287Ala
XR_945791.1:n.1525A>G
NM_000314.7:c.955A>G	NP_000305.3:p.Thr319Ala
NM_001304717.5:c.1474A>G	NP_001291646.4:p.Thr492Ala
NM_001304718.2:c.364A>G	NP_001291647.1:p.Thr122Ala
NM_000314.8:c.955A>G MANE Select	NP_000305.3:p.Thr319Ala