Canonical Allele Identifier: CA377484856

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957904C>A , CM000672.2:g.87957904C>A	GRCh38
NC_000010.10:g.89717661C>A , CM000672.1:g.89717661C>A	GRCh37
NC_000010.9:g.89707641C>A	NCBI36
NG_007466.2:g.99466C>A , LRG_311:g.99466C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.686C>A MANE Select	NP_000305.3:p.Ser229Ter
ENST00000371953.8:c.686C>A MANE Select	ENSP00000361021.3:p.Ser229Ter
NM_000314.5:c.686C>A	NP_000305.3:p.Ser229Ter
NM_000314.6:c.686C>A	NP_000305.3:p.Ser229Ter
NM_000314.7:c.686C>A	NP_000305.3:p.Ser229Ter
NM_001304717.2:c.1205C>A	NP_001291646.2:p.Ser402Ter
NM_001304717.5:c.1205C>A	NP_001291646.4:p.Ser402Ter
NM_001304718.1:c.95C>A	NP_001291647.1:p.Ser32Ter
NM_001304718.2:c.95C>A	NP_001291647.1:p.Ser32Ter
ENST00000371953.7:c.686C>A	ENSP00000361021.3:p.Ser229Ter
ENST00000472832.2:c.113C>A	ENSP00000483066.1:p.Ser38Ter
ENST00000472832.3:c.686C>A	ENSP00000483066.2:p.Ser229Ter
ENST00000686459.1:c.*272C>A	ENSP00000508909.1:n.*272C>A
ENST00000688158.1:c.*797C>A	ENSP00000509254.1:n.*797C>A
ENST00000688158.2:n.1421C>A
ENST00000688308.1:c.686C>A	ENSP00000508752.1:p.Ser229Ter
ENST00000688922.1:c.607C>A
ENST00000688922.2:c.*516C>A	ENSP00000508742.2:n.*516C>A
ENST00000693560.1:c.1205C>A	ENSP00000509861.1:p.Ser402Ter
ENST00000700021.1:c.641C>A	ENSP00000514757.1:p.Ser214Ter
ENST00000700022.1:c.*25C>A	ENSP00000514758.1:n.*25C>A
ENST00000700023.1:n.1844C>A
ENST00000700024.1:n.2078C>A
ENST00000700025.1:n.1455C>A
ENST00000700026.1:n.323C>A
ENST00000700029.1:c.520C>A
ENST00000700029.2:c.686C>A	ENSP00000514759.2:p.Ser229Ter
ENST00000706954.1:c.686C>A	ENSP00000516674.1:p.Ser229Ter
ENST00000706955.1:c.*721C>A	ENSP00000516675.1:n.*721C>A
ENST00000710265.1:c.686C>A	ENSP00000518161.1:p.Ser229Ter
XM_006717926.2:c.641C>A	XP_006717989.1:p.Ser214Ter
XM_011539981.1:c.686C>A	XP_011538283.1:p.Ser229Ter
XM_011539982.1:c.590C>A	XP_011538284.1:p.Ser197Ter
XR_945791.1:n.1256C>A