Canonical Allele Identifier: CA470973912

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960917A>G , CM000672.2:g.87960917A>G	GRCh38
NC_000010.10:g.89720674A>G , CM000672.1:g.89720674A>G	GRCh37
NC_000010.9:g.89710654A>G	NCBI36
NG_007466.2:g.102479A>G , LRG_311:g.102479A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.825A>G MANE Select	NP_000305.3:p.Val275=
ENST00000371953.8:c.825A>G MANE Select	ENSP00000361021.3:p.Val275=
NM_000314.5:c.825A>G	NP_000305.3:p.Val275=
NM_000314.6:c.825A>G	NP_000305.3:p.Val275=
NM_000314.7:c.825A>G	NP_000305.3:p.Val275=
NM_001304717.2:c.1344A>G	NP_001291646.2:p.Val448=
NM_001304717.5:c.1344A>G	NP_001291646.4:p.Val448=
NM_001304718.1:c.234A>G	NP_001291647.1:p.Val78=
NM_001304718.2:c.234A>G	NP_001291647.1:p.Val78=
ENST00000371953.7:c.825A>G	ENSP00000361021.3:p.Val275=
ENST00000472832.2:c.252A>G	ENSP00000483066.1:p.Val84=
ENST00000472832.3:c.825A>G	ENSP00000483066.2:p.Val275=
ENST00000686459.1:c.*411A>G	ENSP00000508909.1:n.*411A>G
ENST00000688158.1:c.*936A>G	ENSP00000509254.1:n.*936A>G
ENST00000688158.2:n.1560A>G
ENST00000688308.1:c.825A>G	ENSP00000508752.1:p.Val275=
ENST00000688922.1:c.746A>G
ENST00000688922.2:c.*655A>G	ENSP00000508742.2:n.*655A>G
ENST00000693560.1:c.1344A>G	ENSP00000509861.1:p.Val448=
ENST00000700021.1:c.780A>G	ENSP00000514757.1:p.Val260=
ENST00000700022.1:c.*164A>G	ENSP00000514758.1:n.*164A>G
ENST00000700023.1:n.1983A>G
ENST00000700024.1:n.2217A>G
ENST00000700025.1:n.1594A>G
ENST00000700026.1:n.462A>G
ENST00000700029.1:c.752A>G
ENST00000700029.2:c.918A>G	ENSP00000514759.2:p.Val306=
ENST00000706954.1:c.825A>G	ENSP00000516674.1:p.Val275=
ENST00000706955.1:c.*860A>G	ENSP00000516675.1:n.*860A>G
ENST00000710265.1:c.825A>G	ENSP00000518161.1:p.Val275=
XM_006717926.2:c.780A>G	XP_006717989.1:p.Val260=
XM_011539981.1:c.825A>G	XP_011538283.1:p.Val275=
XM_011539982.1:c.729A>G	XP_011538284.1:p.Val243=
XR_945791.1:n.1395A>G