Canonical Allele Identifier: CA377485776

Gene: PTEN

Linked Data

• dbSNP Id: rs2132282509
• MyVariant Identifiers: chr10:g.89720747A>T (hg19) ; chr10:g.87960990A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960990A>T , CM000672.2:g.87960990A>T	GRCh38
NC_000010.10:g.89720747A>T , CM000672.1:g.89720747A>T	GRCh37
NC_000010.9:g.89710727A>T	NCBI36
NG_007466.2:g.102552A>T , LRG_311:g.102552A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.991A>T	ENSP00000514759.2:p.Ile331Phe
ENST00000710265.1:c.898A>T	ENSP00000518161.1:p.Ile300Phe
ENST00000472832.3:c.898A>T	ENSP00000483066.2:p.Ile300Phe
ENST00000688158.2:n.1633A>T
ENST00000688922.2:c.*728A>T	ENSP00000508742.2:n.*728A>T
ENST00000700021.1:c.853A>T	ENSP00000514757.1:p.Ile285Phe
ENST00000700022.1:c.*237A>T	ENSP00000514758.1:n.*237A>T
ENST00000700023.1:n.2056A>T
ENST00000700024.1:n.2290A>T
ENST00000700025.1:n.1667A>T
ENST00000700026.1:n.535A>T
ENST00000706954.1:c.898A>T	ENSP00000516674.1:p.Ile300Phe
ENST00000706955.1:c.*933A>T	ENSP00000516675.1:n.*933A>T
ENST00000686459.1:c.*484A>T	ENSP00000508909.1:n.*484A>T
ENST00000688158.1:c.*1009A>T	ENSP00000509254.1:n.*1009A>T
ENST00000688308.1:c.898A>T	ENSP00000508752.1:p.Ile300Phe
ENST00000688922.1:c.819A>T
ENST00000693560.1:c.1417A>T	ENSP00000509861.1:p.Ile473Phe
ENST00000371953.8:c.898A>T MANE Select	ENSP00000361021.3:p.Ile300Phe
ENST00000371953.7:c.898A>T	ENSP00000361021.3:p.Ile300Phe
ENST00000472832.2:c.325A>T	ENSP00000483066.1:p.Ile109Phe
NM_000314.5:c.898A>T	NP_000305.3:p.Ile300Phe
NM_000314.6:c.898A>T	NP_000305.3:p.Ile300Phe
NM_001304717.2:c.1417A>T	NP_001291646.2:p.Ile473Phe
NM_001304718.1:c.307A>T	NP_001291647.1:p.Ile103Phe
XM_006717926.2:c.853A>T	XP_006717989.1:p.Ile285Phe
XM_011539981.1:c.898A>T	XP_011538283.1:p.Ile300Phe
XM_011539982.1:c.802A>T	XP_011538284.1:p.Ile268Phe
XR_945791.1:n.1468A>T
NM_000314.7:c.898A>T	NP_000305.3:p.Ile300Phe
NM_001304717.5:c.1417A>T	NP_001291646.4:p.Ile473Phe
NM_001304718.2:c.307A>T	NP_001291647.1:p.Ile103Phe
NM_000314.8:c.898A>T MANE Select	NP_000305.3:p.Ile300Phe