Canonical Allele Identifier: CA377485847

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2912092
• ClinVar RCV Id: RCV003620370
• dbSNP Id: rs1860626113
• gnomAD v3: 10-87961010-A-G
• gnomAD v4: 10-87961010-A-G
• MyVariant Identifiers: chr10:g.89720767A>G (hg19) ; chr10:g.87961010A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961010A>G , CM000672.2:g.87961010A>G	GRCh38
NC_000010.10:g.89720767A>G , CM000672.1:g.89720767A>G	GRCh37
NC_000010.9:g.89710747A>G	NCBI36
NG_007466.2:g.102572A>G , LRG_311:g.102572A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1011A>G	ENSP00000514759.2:p.Ile337Met
ENST00000710265.1:c.918A>G	ENSP00000518161.1:p.Ile306Met
ENST00000472832.3:c.918A>G	ENSP00000483066.2:p.Ile306Met
ENST00000688158.2:n.1653A>G
ENST00000688922.2:c.*748A>G	ENSP00000508742.2:n.*748A>G
ENST00000700021.1:c.873A>G	ENSP00000514757.1:p.Ile291Met
ENST00000700022.1:c.*257A>G	ENSP00000514758.1:n.*257A>G
ENST00000700023.1:n.2076A>G
ENST00000700024.1:n.2310A>G
ENST00000700025.1:n.1687A>G
ENST00000700026.1:n.555A>G
ENST00000706954.1:c.918A>G	ENSP00000516674.1:p.Ile306Met
ENST00000706955.1:c.*953A>G	ENSP00000516675.1:n.*953A>G
ENST00000686459.1:c.*504A>G	ENSP00000508909.1:n.*504A>G
ENST00000688158.1:c.*1029A>G	ENSP00000509254.1:n.*1029A>G
ENST00000688308.1:c.918A>G	ENSP00000508752.1:p.Ile306Met
ENST00000688922.1:c.839A>G
ENST00000693560.1:c.1437A>G	ENSP00000509861.1:p.Ile479Met
ENST00000371953.8:c.918A>G MANE Select	ENSP00000361021.3:p.Ile306Met
ENST00000371953.7:c.918A>G	ENSP00000361021.3:p.Ile306Met
ENST00000472832.2:c.345A>G	ENSP00000483066.1:p.Ile115Met
NM_000314.5:c.918A>G	NP_000305.3:p.Ile306Met
NM_000314.6:c.918A>G	NP_000305.3:p.Ile306Met
NM_001304717.2:c.1437A>G	NP_001291646.2:p.Ile479Met
NM_001304718.1:c.327A>G	NP_001291647.1:p.Ile109Met
XM_006717926.2:c.873A>G	XP_006717989.1:p.Ile291Met
XM_011539981.1:c.918A>G	XP_011538283.1:p.Ile306Met
XM_011539982.1:c.822A>G	XP_011538284.1:p.Ile274Met
XR_945791.1:n.1488A>G
NM_000314.7:c.918A>G	NP_000305.3:p.Ile306Met
NM_001304717.5:c.1437A>G	NP_001291646.4:p.Ile479Met
NM_001304718.2:c.327A>G	NP_001291647.1:p.Ile109Met
NM_000314.8:c.918A>G MANE Select	NP_000305.3:p.Ile306Met