Canonical Allele Identifier: CA470667707

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952207G>A , CM000672.2:g.87952207G>A	GRCh38
NC_000010.10:g.89711964G>A , CM000672.1:g.89711964G>A	GRCh37
NC_000010.9:g.89701944G>A	NCBI36
NG_007466.2:g.93769G>A , LRG_311:g.93769G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.582G>A MANE Select	NP_000305.3:p.Leu194=
ENST00000371953.8:c.582G>A MANE Select	ENSP00000361021.3:p.Leu194=
NM_000314.5:c.582G>A	NP_000305.3:p.Leu194=
NM_000314.6:c.582G>A	NP_000305.3:p.Leu194=
NM_000314.7:c.582G>A	NP_000305.3:p.Leu194=
NM_001304717.2:c.1101G>A	NP_001291646.2:p.Leu367=
NM_001304717.5:c.1101G>A	NP_001291646.4:p.Leu367=
NM_001304718.1:c.-10G>A	NP_001291647.1:n.-10G>A
NM_001304718.2:c.-10G>A	NP_001291647.1:n.-10G>A
ENST00000371953.7:c.582G>A	ENSP00000361021.3:p.Leu194=
ENST00000472832.2:c.9G>A	ENSP00000483066.1:p.Leu3=
ENST00000472832.3:c.582G>A	ENSP00000483066.2:p.Leu194=
ENST00000686459.1:c.*168G>A	ENSP00000508909.1:n.*168G>A
ENST00000688158.1:c.*693G>A	ENSP00000509254.1:n.*693G>A
ENST00000688158.2:n.1317G>A
ENST00000688308.1:c.582G>A	ENSP00000508752.1:p.Leu194=
ENST00000688922.1:c.503G>A
ENST00000688922.2:c.*412G>A	ENSP00000508742.2:n.*412G>A
ENST00000693560.1:c.1101G>A	ENSP00000509861.1:p.Leu367=
ENST00000700021.1:c.537G>A	ENSP00000514757.1:p.Leu179=
ENST00000700022.1:c.493-5646G>A	ENSP00000514758.1:n.493-5646G>A
ENST00000700023.1:n.1740G>A
ENST00000700024.1:n.1974G>A
ENST00000700025.1:n.1351G>A
ENST00000700029.1:c.416G>A
ENST00000700029.2:c.582G>A	ENSP00000514759.2:p.Leu194=
ENST00000706954.1:c.582G>A	ENSP00000516674.1:p.Leu194=
ENST00000706955.1:c.*617G>A	ENSP00000516675.1:n.*617G>A
ENST00000710265.1:c.582G>A	ENSP00000518161.1:p.Leu194=
XM_006717926.2:c.537G>A	XP_006717989.1:p.Leu179=
XM_011539981.1:c.582G>A	XP_011538283.1:p.Leu194=
XM_011539982.1:c.486G>A	XP_011538284.1:p.Leu162=
XR_945791.1:n.1205-5646G>A