Canonical Allele Identifier: CA377487098

Gene: PTEN

Linked Data

• gnomAD v4: 10-87965290-A-G
• MyVariant Identifiers: chr10:g.89725047A>G (hg19) ; chr10:g.87965290A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965290A>G , CM000672.2:g.87965290A>G	GRCh38
NC_000010.10:g.89725047A>G , CM000672.1:g.89725047A>G	GRCh37
NC_000010.9:g.89715027A>G	NCBI36
NG_007466.2:g.106852A>G , LRG_311:g.106852A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1123A>G	ENSP00000514759.2:p.Lys375Glu
ENST00000710265.1:c.*59A>G	ENSP00000518161.1:n.*59A>G
ENST00000688158.2:n.1765A>G
ENST00000688922.2:c.*860A>G	ENSP00000508742.2:n.*860A>G
ENST00000700021.1:c.985A>G	ENSP00000514757.1:p.Lys329Glu
ENST00000700022.1:c.*369A>G	ENSP00000514758.1:n.*369A>G
ENST00000700023.1:n.2188A>G
ENST00000700024.1:n.2422A>G
ENST00000706954.1:c.1030A>G	ENSP00000516674.1:p.Lys344Glu
ENST00000706955.1:c.*1065A>G	ENSP00000516675.1:n.*1065A>G
ENST00000686459.1:c.*616A>G	ENSP00000508909.1:n.*616A>G
ENST00000688158.1:c.*1141A>G	ENSP00000509254.1:n.*1141A>G
ENST00000688308.1:c.1030A>G	ENSP00000508752.1:p.Lys344Glu
ENST00000688922.1:c.951A>G
ENST00000693560.1:c.1549A>G	ENSP00000509861.1:p.Lys517Glu
ENST00000371953.8:c.1030A>G MANE Select	ENSP00000361021.3:p.Lys344Glu
ENST00000371953.7:c.1030A>G	ENSP00000361021.3:p.Lys344Glu
NM_000314.5:c.1030A>G	NP_000305.3:p.Lys344Glu
NM_000314.6:c.1030A>G	NP_000305.3:p.Lys344Glu
NM_001304717.2:c.1549A>G	NP_001291646.2:p.Lys517Glu
NM_001304718.1:c.439A>G	NP_001291647.1:p.Lys147Glu
XM_006717926.2:c.985A>G	XP_006717989.1:p.Lys329Glu
XM_011539982.1:c.934A>G	XP_011538284.1:p.Lys312Glu
XR_945791.1:n.1600A>G
NM_000314.7:c.1030A>G	NP_000305.3:p.Lys344Glu
NM_001304717.5:c.1549A>G	NP_001291646.4:p.Lys517Glu
NM_001304718.2:c.439A>G	NP_001291647.1:p.Lys147Glu
NM_000314.8:c.1030A>G MANE Select	NP_000305.3:p.Lys344Glu