Canonical Allele Identifier: CA377484974

Gene: PTEN

Linked Data

• dbSNP Id: rs1554825217
• MyVariant Identifiers: chr10:g.89717716A>T (hg19) ; chr10:g.87957959A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957959A>T , CM000672.2:g.87957959A>T	GRCh38
NC_000010.10:g.89717716A>T , CM000672.1:g.89717716A>T	GRCh37
NC_000010.9:g.89707696A>T	NCBI36
NG_007466.2:g.99521A>T , LRG_311:g.99521A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.741A>T	ENSP00000514759.2:p.Leu247Phe
ENST00000710265.1:c.741A>T	ENSP00000518161.1:p.Leu247Phe
ENST00000472832.3:c.741A>T	ENSP00000483066.2:p.Leu247Phe
ENST00000688158.2:n.1476A>T
ENST00000688922.2:c.*571A>T	ENSP00000508742.2:n.*571A>T
ENST00000700021.1:c.696A>T	ENSP00000514757.1:p.Leu232Phe
ENST00000700022.1:c.*80A>T	ENSP00000514758.1:n.*80A>T
ENST00000700023.1:n.1899A>T
ENST00000700024.1:n.2133A>T
ENST00000700025.1:n.1510A>T
ENST00000700026.1:n.378A>T
ENST00000700029.1:c.575A>T
ENST00000706954.1:c.741A>T	ENSP00000516674.1:p.Leu247Phe
ENST00000706955.1:c.*776A>T	ENSP00000516675.1:n.*776A>T
ENST00000686459.1:c.*327A>T	ENSP00000508909.1:n.*327A>T
ENST00000688158.1:c.*852A>T	ENSP00000509254.1:n.*852A>T
ENST00000688308.1:c.741A>T	ENSP00000508752.1:p.Leu247Phe
ENST00000688922.1:c.662A>T
ENST00000693560.1:c.1260A>T	ENSP00000509861.1:p.Leu420Phe
ENST00000371953.8:c.741A>T MANE Select	ENSP00000361021.3:p.Leu247Phe
ENST00000371953.7:c.741A>T	ENSP00000361021.3:p.Leu247Phe
ENST00000472832.2:c.168A>T	ENSP00000483066.1:p.Leu56Phe
NM_000314.5:c.741A>T	NP_000305.3:p.Leu247Phe
NM_000314.6:c.741A>T	NP_000305.3:p.Leu247Phe
NM_001304717.2:c.1260A>T	NP_001291646.2:p.Leu420Phe
NM_001304718.1:c.150A>T	NP_001291647.1:p.Leu50Phe
XM_006717926.2:c.696A>T	XP_006717989.1:p.Leu232Phe
XM_011539981.1:c.741A>T	XP_011538283.1:p.Leu247Phe
XM_011539982.1:c.645A>T	XP_011538284.1:p.Leu215Phe
XR_945791.1:n.1311A>T
NM_000314.7:c.741A>T	NP_000305.3:p.Leu247Phe
NM_001304717.5:c.1260A>T	NP_001291646.4:p.Leu420Phe
NM_001304718.2:c.150A>T	NP_001291647.1:p.Leu50Phe
NM_000314.8:c.741A>T MANE Select	NP_000305.3:p.Leu247Phe