Canonical Allele Identifier: CA060595

Gene: PTEN

Linked Data

• ClinVar Variation Id: 384657
• ClinVar RCV Id: RCV000580543 ; RCV001697839 ; RCV002058920
• dbSNP Id: rs776590293
• ExAC: 10:89653771 A / G
• gnomAD v2: 10-89653771-A-G
• gnomAD v3: 10-87894014-A-G
• gnomAD v4: 10-87894014-A-G
• MyVariant Identifiers: chr10:g.89653771A>G (hg19) ; chr10:g.87894014A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894014A>G , CM000672.2:g.87894014A>G	GRCh38
NC_000010.10:g.89653771A>G , CM000672.1:g.89653771A>G	GRCh37
NC_000010.9:g.89643751A>G	NCBI36
NG_007466.2:g.35576A>G , LRG_311:g.35576A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.80-11A>G	ENSP00000514759.2:n.80-11A>G
ENST00000710265.1:c.80-11A>G	ENSP00000518161.1:n.80-11A>G
ENST00000472832.3:c.80-11A>G	ENSP00000483066.2:n.80-11A>G
ENST00000688158.2:n.899+13576A>G
ENST00000688922.2:c.80-11A>G	ENSP00000508742.2:n.80-11A>G
ENST00000700021.1:c.80-11A>G	ENSP00000514757.1:n.80-11A>G
ENST00000700022.1:c.80-11A>G	ENSP00000514758.1:n.80-11A>G
ENST00000706954.1:c.80-11A>G	ENSP00000516674.1:n.80-11A>G
ENST00000706955.1:c.*115-11A>G	ENSP00000516675.1:n.*115-11A>G
ENST00000686459.1:c.80-11A>G	ENSP00000508909.1:n.80-11A>G
ENST00000688158.1:c.*275+13576A>G	ENSP00000509254.1:n.*275+13576A>G
ENST00000688308.1:c.80-11A>G	ENSP00000508752.1:n.80-11A>G
ENST00000693560.1:c.599-11A>G	ENSP00000509861.1:n.599-11A>G
ENST00000371953.8:c.80-11A>G MANE Select	ENSP00000361021.3:n.80-11A>G
ENST00000371953.7:c.80-11A>G	ENSP00000361021.3:n.80-11A>G
ENST00000462694.1:n.82-11A>G
ENST00000610634.1:c.-23-11A>G	ENSP00000477517.1:n.-23-11A>G
NM_000314.5:c.80-11A>G	NP_000305.3:n.80-11A>G
NM_000314.6:c.80-11A>G	NP_000305.3:n.80-11A>G
NM_001304717.2:c.599-11A>G	NP_001291646.2:n.599-11A>G
NM_001304718.1:c.-626-11A>G	NP_001291647.1:n.-626-11A>G
XM_006717926.2:c.80-11A>G	XP_006717989.1:n.80-11A>G
XM_011539981.1:c.80-11A>G	XP_011538283.1:n.80-11A>G
XM_011539982.1:c.68+13576A>G	XP_011538284.1:n.68+13576A>G
XR_945789.1:n.792-11A>G
XR_945790.1:n.792-11A>G
XR_945791.1:n.792-11A>G
NM_000314.7:c.80-11A>G	NP_000305.3:n.80-11A>G
NM_001304717.5:c.599-11A>G	NP_001291646.4:n.599-11A>G
NM_001304718.2:c.-626-11A>G	NP_001291647.1:n.-626-11A>G
NM_000314.8:c.80-11A>G MANE Select	NP_000305.3:n.80-11A>G