Canonical Allele Identifier: CA377485634

Gene: PTEN

Linked Data

• ClinVar Variation Id: 484603
• ClinVar RCV Id: RCV000563025 ; RCV000764924 ; RCV001214770
• dbSNP Id: rs1554825528
• gnomAD v4: 10-87960954-G-A
• MyVariant Identifiers: chr10:g.89720711G>A (hg19) ; chr10:g.87960954G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960954G>A , CM000672.2:g.87960954G>A	GRCh38
NC_000010.10:g.89720711G>A , CM000672.1:g.89720711G>A	GRCh37
NC_000010.9:g.89710691G>A	NCBI36
NG_007466.2:g.102516G>A , LRG_311:g.102516G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.955G>A	ENSP00000514759.2:p.Glu319Lys
ENST00000710265.1:c.862G>A	ENSP00000518161.1:p.Glu288Lys
ENST00000472832.3:c.862G>A	ENSP00000483066.2:p.Glu288Lys
ENST00000688158.2:n.1597G>A
ENST00000688922.2:c.*692G>A	ENSP00000508742.2:n.*692G>A
ENST00000700021.1:c.817G>A	ENSP00000514757.1:p.Glu273Lys
ENST00000700022.1:c.*201G>A	ENSP00000514758.1:n.*201G>A
ENST00000700023.1:n.2020G>A
ENST00000700024.1:n.2254G>A
ENST00000700025.1:n.1631G>A
ENST00000700026.1:n.499G>A
ENST00000700029.1:c.789G>A
ENST00000706954.1:c.862G>A	ENSP00000516674.1:p.Glu288Lys
ENST00000706955.1:c.*897G>A	ENSP00000516675.1:n.*897G>A
ENST00000686459.1:c.*448G>A	ENSP00000508909.1:n.*448G>A
ENST00000688158.1:c.*973G>A	ENSP00000509254.1:n.*973G>A
ENST00000688308.1:c.862G>A	ENSP00000508752.1:p.Glu288Lys
ENST00000688922.1:c.783G>A
ENST00000693560.1:c.1381G>A	ENSP00000509861.1:p.Glu461Lys
ENST00000371953.8:c.862G>A MANE Select	ENSP00000361021.3:p.Glu288Lys
ENST00000371953.7:c.862G>A	ENSP00000361021.3:p.Glu288Lys
ENST00000472832.2:c.289G>A	ENSP00000483066.1:p.Glu97Lys
NM_000314.5:c.862G>A	NP_000305.3:p.Glu288Lys
NM_000314.6:c.862G>A	NP_000305.3:p.Glu288Lys
NM_001304717.2:c.1381G>A	NP_001291646.2:p.Glu461Lys
NM_001304718.1:c.271G>A	NP_001291647.1:p.Glu91Lys
XM_006717926.2:c.817G>A	XP_006717989.1:p.Glu273Lys
XM_011539981.1:c.862G>A	XP_011538283.1:p.Glu288Lys
XM_011539982.1:c.766G>A	XP_011538284.1:p.Glu256Lys
XR_945791.1:n.1432G>A
NM_000314.7:c.862G>A	NP_000305.3:p.Glu288Lys
NM_001304717.5:c.1381G>A	NP_001291646.4:p.Glu461Lys
NM_001304718.2:c.271G>A	NP_001291647.1:p.Glu91Lys
NM_000314.8:c.862G>A MANE Select	NP_000305.3:p.Glu288Lys