Canonical Allele Identifier: CA377485932

Gene: PTEN

Linked Data

• dbSNP Id: rs1455551840
• gnomAD v4: 10-87961032-G-A
• COSMIC: COSM5081
• MyVariant Identifiers: chr10:g.89720789G>A (hg19) ; chr10:g.87961032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961032G>A , CM000672.2:g.87961032G>A	GRCh38
NC_000010.10:g.89720789G>A , CM000672.1:g.89720789G>A	GRCh37
NC_000010.9:g.89710769G>A	NCBI36
NG_007466.2:g.102594G>A , LRG_311:g.102594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1033G>A	ENSP00000514759.2:p.Glu345Lys
ENST00000710265.1:c.940G>A	ENSP00000518161.1:p.Glu314Lys
ENST00000472832.3:c.940G>A	ENSP00000483066.2:p.Glu314Lys
ENST00000688158.2:n.1675G>A
ENST00000688922.2:c.*770G>A	ENSP00000508742.2:n.*770G>A
ENST00000700021.1:c.895G>A	ENSP00000514757.1:p.Glu299Lys
ENST00000700022.1:c.*279G>A	ENSP00000514758.1:n.*279G>A
ENST00000700023.1:n.2098G>A
ENST00000700024.1:n.2332G>A
ENST00000700025.1:n.1709G>A
ENST00000700026.1:n.577G>A
ENST00000706954.1:c.940G>A	ENSP00000516674.1:p.Glu314Lys
ENST00000706955.1:c.*975G>A	ENSP00000516675.1:n.*975G>A
ENST00000686459.1:c.*526G>A	ENSP00000508909.1:n.*526G>A
ENST00000688158.1:c.*1051G>A	ENSP00000509254.1:n.*1051G>A
ENST00000688308.1:c.940G>A	ENSP00000508752.1:p.Glu314Lys
ENST00000688922.1:c.861G>A
ENST00000693560.1:c.1459G>A	ENSP00000509861.1:p.Glu487Lys
ENST00000371953.8:c.940G>A MANE Select	ENSP00000361021.3:p.Glu314Lys
ENST00000371953.7:c.940G>A	ENSP00000361021.3:p.Glu314Lys
ENST00000472832.2:c.367G>A	ENSP00000483066.1:p.Glu123Lys
NM_000314.5:c.940G>A	NP_000305.3:p.Glu314Lys
NM_000314.6:c.940G>A	NP_000305.3:p.Glu314Lys
NM_001304717.2:c.1459G>A	NP_001291646.2:p.Glu487Lys
NM_001304718.1:c.349G>A	NP_001291647.1:p.Glu117Lys
XM_006717926.2:c.895G>A	XP_006717989.1:p.Glu299Lys
XM_011539981.1:c.940G>A	XP_011538283.1:p.Glu314Lys
XM_011539982.1:c.844G>A	XP_011538284.1:p.Glu282Lys
XR_945791.1:n.1510G>A
NM_000314.7:c.940G>A	NP_000305.3:p.Glu314Lys
NM_001304717.5:c.1459G>A	NP_001291646.4:p.Glu487Lys
NM_001304718.2:c.349G>A	NP_001291647.1:p.Glu117Lys
NM_000314.8:c.940G>A MANE Select	NP_000305.3:p.Glu314Lys