Canonical Allele Identifier: CA930911282

Gene: PTEN

Linked Data

• ClinVar Variation Id: 879394
• ClinVar RCV Id: RCV001106873
• dbSNP Id: rs1860800600
• gnomAD v3: 10-87967544-C-G
• gnomAD v4: 10-87967544-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87967544C>G , CM000672.2:g.87967544C>G	GRCh38
NC_000010.10:g.89727301C>G , CM000672.1:g.89727301C>G	GRCh37
NC_000010.9:g.89717281C>G	NCBI36
NG_007466.2:g.109106C>G , LRG_311:g.109106C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000710265.1:c.*2313C>G	ENSP00000518161.1:n.*2313C>G
ENST00000688158.2:n.4019C>G
ENST00000706954.1:c.*2072C>G	ENSP00000516674.1:n.*2072C>G
ENST00000706955.1:c.*3319C>G	ENSP00000516675.1:n.*3319C>G
ENST00000688158.1:c.*3395C>G	ENSP00000509254.1:n.*3395C>G
ENST00000693560.1:c.*2072C>G	ENSP00000509861.1:n.*2072C>G
ENST00000371953.8:c.*2072C>G MANE Select	ENSP00000361021.3:n.*2072C>G
ENST00000371953.7:c.*2072C>G	ENSP00000361021.3:n.*2072C>G
NM_000314.5:c.*2072C>G	NP_000305.3:n.*2072C>G
NM_000314.6:c.*2072C>G	NP_000305.3:n.*2072C>G
NM_001304717.2:c.*2072C>G	NP_001291646.2:n.*2072C>G
NM_001304718.1:c.*2072C>G	NP_001291647.1:n.*2072C>G
XM_006717926.2:c.*2072C>G	XP_006717989.1:n.*2072C>G
XM_011539982.1:c.*2072C>G	XP_011538284.1:n.*2072C>G
XR_945791.1:n.3854C>G
NM_000314.7:c.*2072C>G	NP_000305.3:n.*2072C>G
NM_001304717.5:c.*2072C>G	NP_001291646.4:n.*2072C>G
NM_001304718.2:c.*2072C>G	NP_001291647.1:n.*2072C>G
NM_000314.8:c.*2072C>G MANE Select	NP_000305.3:n.*2072C>G