Canonical Allele Identifier: CA377484512

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952206T>A , CM000672.2:g.87952206T>A	GRCh38
NC_000010.10:g.89711963T>A , CM000672.1:g.89711963T>A	GRCh37
NC_000010.9:g.89701943T>A	NCBI36
NG_007466.2:g.93768T>A , LRG_311:g.93768T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000314.8:c.581T>A MANE Select	NP_000305.3:p.Leu194Ter
ENST00000371953.8:c.581T>A MANE Select	ENSP00000361021.3:p.Leu194Ter
NM_000314.5:c.581T>A	NP_000305.3:p.Leu194Ter
NM_000314.6:c.581T>A	NP_000305.3:p.Leu194Ter
NM_000314.7:c.581T>A	NP_000305.3:p.Leu194Ter
NM_001304717.2:c.1100T>A	NP_001291646.2:p.Leu367Ter
NM_001304717.5:c.1100T>A	NP_001291646.4:p.Leu367Ter
NM_001304718.1:c.-11T>A	NP_001291647.1:n.-11T>A
NM_001304718.2:c.-11T>A	NP_001291647.1:n.-11T>A
ENST00000371953.7:c.581T>A	ENSP00000361021.3:p.Leu194Ter
ENST00000472832.2:c.8T>A	ENSP00000483066.1:p.Leu3Ter
ENST00000472832.3:c.581T>A	ENSP00000483066.2:p.Leu194Ter
ENST00000686459.1:c.*167T>A	ENSP00000508909.1:n.*167T>A
ENST00000688158.1:c.*692T>A	ENSP00000509254.1:n.*692T>A
ENST00000688158.2:n.1316T>A
ENST00000688308.1:c.581T>A	ENSP00000508752.1:p.Leu194Ter
ENST00000688922.1:c.502T>A
ENST00000688922.2:c.*411T>A	ENSP00000508742.2:n.*411T>A
ENST00000693560.1:c.1100T>A	ENSP00000509861.1:p.Leu367Ter
ENST00000700021.1:c.536T>A	ENSP00000514757.1:p.Leu179Ter
ENST00000700022.1:c.493-5647T>A	ENSP00000514758.1:n.493-5647T>A
ENST00000700023.1:n.1739T>A
ENST00000700024.1:n.1973T>A
ENST00000700025.1:n.1350T>A
ENST00000700029.1:c.415T>A
ENST00000700029.2:c.581T>A	ENSP00000514759.2:p.Leu194Ter
ENST00000706954.1:c.581T>A	ENSP00000516674.1:p.Leu194Ter
ENST00000706955.1:c.*616T>A	ENSP00000516675.1:n.*616T>A
ENST00000710265.1:c.581T>A	ENSP00000518161.1:p.Leu194Ter
XM_006717926.2:c.536T>A	XP_006717989.1:p.Leu179Ter
XM_011539981.1:c.581T>A	XP_011538283.1:p.Leu194Ter
XM_011539982.1:c.485T>A	XP_011538284.1:p.Leu162Ter
XR_945791.1:n.1205-5647T>A