Canonical Allele Identifier: CA000546

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957903T>A , CM000672.2:g.87957903T>A	GRCh38
NC_000010.10:g.89717660T>A , CM000672.1:g.89717660T>A	GRCh37
NC_000010.9:g.89707640T>A	NCBI36
NG_007466.2:g.99465T>A , LRG_311:g.99465T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.685T>A	ENSP00000514759.2:p.Ser229Thr
ENST00000710265.1:c.685T>A	ENSP00000518161.1:p.Ser229Thr
ENST00000472832.3:c.685T>A	ENSP00000483066.2:p.Ser229Thr
ENST00000688158.2:n.1420T>A
ENST00000688922.2:c.*515T>A	ENSP00000508742.2:n.*515T>A
ENST00000700021.1:c.640T>A	ENSP00000514757.1:p.Ser214Thr
ENST00000700022.1:c.*24T>A	ENSP00000514758.1:n.*24T>A
ENST00000700023.1:n.1843T>A
ENST00000700024.1:n.2077T>A
ENST00000700025.1:n.1454T>A
ENST00000700026.1:n.322T>A
ENST00000700029.1:c.519T>A
ENST00000706954.1:c.685T>A	ENSP00000516674.1:p.Ser229Thr
ENST00000706955.1:c.*720T>A	ENSP00000516675.1:n.*720T>A
ENST00000686459.1:c.*271T>A	ENSP00000508909.1:n.*271T>A
ENST00000688158.1:c.*796T>A	ENSP00000509254.1:n.*796T>A
ENST00000688308.1:c.685T>A	ENSP00000508752.1:p.Ser229Thr
ENST00000688922.1:c.606T>A
ENST00000693560.1:c.1204T>A	ENSP00000509861.1:p.Ser402Thr
ENST00000371953.8:c.685T>A MANE Select	ENSP00000361021.3:p.Ser229Thr
ENST00000371953.7:c.685T>A	ENSP00000361021.3:p.Ser229Thr
ENST00000472832.2:c.112T>A	ENSP00000483066.1:p.Ser38Thr
NM_000314.5:c.685T>A	NP_000305.3:p.Ser229Thr
NM_000314.6:c.685T>A	NP_000305.3:p.Ser229Thr
NM_001304717.2:c.1204T>A	NP_001291646.2:p.Ser402Thr
NM_001304718.1:c.94T>A	NP_001291647.1:p.Ser32Thr
XM_006717926.2:c.640T>A	XP_006717989.1:p.Ser214Thr
XM_011539981.1:c.685T>A	XP_011538283.1:p.Ser229Thr
XM_011539982.1:c.589T>A	XP_011538284.1:p.Ser197Thr
XR_945791.1:n.1255T>A
NM_000314.7:c.685T>A	NP_000305.3:p.Ser229Thr
NM_001304717.5:c.1204T>A	NP_001291646.4:p.Ser402Thr
NM_001304718.2:c.94T>A	NP_001291647.1:p.Ser32Thr
NM_000314.8:c.685T>A MANE Select	NP_000305.3:p.Ser229Thr