Canonical Allele Identifier: CA377485779

Gene: PTEN

Linked Data

• dbSNP Id: rs2132282518
• MyVariant Identifiers: chr10:g.89720748T>C (hg19) ; chr10:g.87960991T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960991T>C , CM000672.2:g.87960991T>C	GRCh38
NC_000010.10:g.89720748T>C , CM000672.1:g.89720748T>C	GRCh37
NC_000010.9:g.89710728T>C	NCBI36
NG_007466.2:g.102553T>C , LRG_311:g.102553T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.992T>C	ENSP00000514759.2:p.Ile331Thr
ENST00000710265.1:c.899T>C	ENSP00000518161.1:p.Ile300Thr
ENST00000472832.3:c.899T>C	ENSP00000483066.2:p.Ile300Thr
ENST00000688158.2:n.1634T>C
ENST00000688922.2:c.*729T>C	ENSP00000508742.2:n.*729T>C
ENST00000700021.1:c.854T>C	ENSP00000514757.1:p.Ile285Thr
ENST00000700022.1:c.*238T>C	ENSP00000514758.1:n.*238T>C
ENST00000700023.1:n.2057T>C
ENST00000700024.1:n.2291T>C
ENST00000700025.1:n.1668T>C
ENST00000700026.1:n.536T>C
ENST00000706954.1:c.899T>C	ENSP00000516674.1:p.Ile300Thr
ENST00000706955.1:c.*934T>C	ENSP00000516675.1:n.*934T>C
ENST00000686459.1:c.*485T>C	ENSP00000508909.1:n.*485T>C
ENST00000688158.1:c.*1010T>C	ENSP00000509254.1:n.*1010T>C
ENST00000688308.1:c.899T>C	ENSP00000508752.1:p.Ile300Thr
ENST00000688922.1:c.820T>C
ENST00000693560.1:c.1418T>C	ENSP00000509861.1:p.Ile473Thr
ENST00000371953.8:c.899T>C MANE Select	ENSP00000361021.3:p.Ile300Thr
ENST00000371953.7:c.899T>C	ENSP00000361021.3:p.Ile300Thr
ENST00000472832.2:c.326T>C	ENSP00000483066.1:p.Ile109Thr
NM_000314.5:c.899T>C	NP_000305.3:p.Ile300Thr
NM_000314.6:c.899T>C	NP_000305.3:p.Ile300Thr
NM_001304717.2:c.1418T>C	NP_001291646.2:p.Ile473Thr
NM_001304718.1:c.308T>C	NP_001291647.1:p.Ile103Thr
XM_006717926.2:c.854T>C	XP_006717989.1:p.Ile285Thr
XM_011539981.1:c.899T>C	XP_011538283.1:p.Ile300Thr
XM_011539982.1:c.803T>C	XP_011538284.1:p.Ile268Thr
XR_945791.1:n.1469T>C
NM_000314.7:c.899T>C	NP_000305.3:p.Ile300Thr
NM_001304717.5:c.1418T>C	NP_001291646.4:p.Ile473Thr
NM_001304718.2:c.308T>C	NP_001291647.1:p.Ile103Thr
NM_000314.8:c.899T>C MANE Select	NP_000305.3:p.Ile300Thr