Canonical Allele Identifier: CA211491248

Gene: PTEN

Linked Data

• dbSNP Id: rs759974271
• gnomAD v2: 10-89686125-C-G
• gnomAD v3: 10-87926368-C-G
• gnomAD v4: 10-87926368-C-G
• MyVariant Identifiers: chr10:g.89686125C>G (hg19) ; chr10:g.87926368C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87926368C>G , CM000672.2:g.87926368C>G	GRCh38
NC_000010.10:g.89686125C>G , CM000672.1:g.89686125C>G	GRCh37
NC_000010.9:g.89676105C>G	NCBI36
NG_007466.2:g.67930C>G , LRG_311:g.67930C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.209+811C>G	ENSP00000514759.2:n.209+811C>G
ENST00000710265.1:c.209+811C>G	ENSP00000518161.1:n.209+811C>G
ENST00000472832.3:c.209+811C>G	ENSP00000483066.2:n.209+811C>G
ENST00000688158.2:n.944+811C>G
ENST00000688922.2:c.209+811C>G	ENSP00000508742.2:n.209+811C>G
ENST00000700021.1:c.165-4678C>G	ENSP00000514757.1:n.165-4678C>G
ENST00000700022.1:c.209+811C>G	ENSP00000514758.1:n.209+811C>G
ENST00000700029.1:c.43+811C>G
ENST00000706954.1:c.209+811C>G	ENSP00000516674.1:n.209+811C>G
ENST00000706955.1:c.*244+811C>G	ENSP00000516675.1:n.*244+811C>G
ENST00000686459.1:c.209+811C>G	ENSP00000508909.1:n.209+811C>G
ENST00000688158.1:c.*320+811C>G	ENSP00000509254.1:n.*320+811C>G
ENST00000688308.1:c.209+811C>G	ENSP00000508752.1:n.209+811C>G
ENST00000688922.1:c.78+811C>G
ENST00000693560.1:c.728+811C>G	ENSP00000509861.1:n.728+811C>G
ENST00000371953.8:c.209+811C>G MANE Select	ENSP00000361021.3:n.209+811C>G
ENST00000371953.7:c.209+811C>G	ENSP00000361021.3:n.209+811C>G
ENST00000498703.1:n.35+811C>G
ENST00000610634.1:c.107+811C>G	ENSP00000477517.1:n.107+811C>G
NM_000314.5:c.209+811C>G	NP_000305.3:n.209+811C>G
NM_000314.6:c.209+811C>G	NP_000305.3:n.209+811C>G
NM_001304717.2:c.728+811C>G	NP_001291646.2:n.728+811C>G
NM_001304718.1:c.-541-4678C>G	NP_001291647.1:n.-541-4678C>G
XM_006717926.2:c.165-4678C>G	XP_006717989.1:n.165-4678C>G
XM_011539981.1:c.209+811C>G	XP_011538283.1:n.209+811C>G
XM_011539982.1:c.113+811C>G	XP_011538284.1:n.113+811C>G
XR_945789.1:n.921+811C>G
XR_945790.1:n.921+811C>G
XR_945791.1:n.921+811C>G
NM_000314.7:c.209+811C>G	NP_000305.3:n.209+811C>G
NM_001304717.5:c.728+811C>G	NP_001291646.4:n.728+811C>G
NM_001304718.2:c.-541-4678C>G	NP_001291647.1:n.-541-4678C>G
NM_000314.8:c.209+811C>G MANE Select	NP_000305.3:n.209+811C>G