Canonical Allele Identifier: CA377484899

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957927A>T , CM000672.2:g.87957927A>T	GRCh38
NC_000010.10:g.89717684A>T , CM000672.1:g.89717684A>T	GRCh37
NC_000010.9:g.89707664A>T	NCBI36
NG_007466.2:g.99489A>T , LRG_311:g.99489A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.709A>T MANE Select	NP_000305.3:p.Lys237Ter
ENST00000371953.8:c.709A>T MANE Select	ENSP00000361021.3:p.Lys237Ter
NM_000314.5:c.709A>T	NP_000305.3:p.Lys237Ter
NM_000314.6:c.709A>T	NP_000305.3:p.Lys237Ter
NM_000314.7:c.709A>T	NP_000305.3:p.Lys237Ter
NM_001304717.2:c.1228A>T	NP_001291646.2:p.Lys410Ter
NM_001304717.5:c.1228A>T	NP_001291646.4:p.Lys410Ter
NM_001304718.1:c.118A>T	NP_001291647.1:p.Lys40Ter
NM_001304718.2:c.118A>T	NP_001291647.1:p.Lys40Ter
ENST00000371953.7:c.709A>T	ENSP00000361021.3:p.Lys237Ter
ENST00000472832.2:c.136A>T	ENSP00000483066.1:p.Lys46Ter
ENST00000472832.3:c.709A>T	ENSP00000483066.2:p.Lys237Ter
ENST00000686459.1:c.*295A>T	ENSP00000508909.1:n.*295A>T
ENST00000688158.1:c.*820A>T	ENSP00000509254.1:n.*820A>T
ENST00000688158.2:n.1444A>T
ENST00000688308.1:c.709A>T	ENSP00000508752.1:p.Lys237Ter
ENST00000688922.1:c.630A>T
ENST00000688922.2:c.*539A>T	ENSP00000508742.2:n.*539A>T
ENST00000693560.1:c.1228A>T	ENSP00000509861.1:p.Lys410Ter
ENST00000700021.1:c.664A>T	ENSP00000514757.1:p.Lys222Ter
ENST00000700022.1:c.*48A>T	ENSP00000514758.1:n.*48A>T
ENST00000700023.1:n.1867A>T
ENST00000700024.1:n.2101A>T
ENST00000700025.1:n.1478A>T
ENST00000700026.1:n.346A>T
ENST00000700029.1:c.543A>T
ENST00000700029.2:c.709A>T	ENSP00000514759.2:p.Lys237Ter
ENST00000706954.1:c.709A>T	ENSP00000516674.1:p.Lys237Ter
ENST00000706955.1:c.*744A>T	ENSP00000516675.1:n.*744A>T
ENST00000710265.1:c.709A>T	ENSP00000518161.1:p.Lys237Ter
XM_006717926.2:c.664A>T	XP_006717989.1:p.Lys222Ter
XM_011539981.1:c.709A>T	XP_011538283.1:p.Lys237Ter
XM_011539982.1:c.613A>T	XP_011538284.1:p.Lys205Ter
XR_945791.1:n.1279A>T