Canonical Allele Identifier: CA377486057

Gene: PTEN

Linked Data

• dbSNP Id: rs2132283300
• COSMIC: COSM6438165
• MyVariant Identifiers: chr10:g.89720825G>T (hg19) ; chr10:g.87961068G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961068G>T , CM000672.2:g.87961068G>T	GRCh38
NC_000010.10:g.89720825G>T , CM000672.1:g.89720825G>T	GRCh37
NC_000010.9:g.89710805G>T	NCBI36
NG_007466.2:g.102630G>T , LRG_311:g.102630G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1069G>T	ENSP00000514759.2:p.Asp357Tyr
ENST00000710265.1:c.976G>T	ENSP00000518161.1:p.Asp326Tyr
ENST00000472832.3:c.976G>T	ENSP00000483066.2:p.Asp326Tyr
ENST00000688158.2:n.1711G>T
ENST00000688922.2:c.*806G>T	ENSP00000508742.2:n.*806G>T
ENST00000700021.1:c.931G>T	ENSP00000514757.1:p.Asp311Tyr
ENST00000700022.1:c.*315G>T	ENSP00000514758.1:n.*315G>T
ENST00000700023.1:n.2134G>T
ENST00000700024.1:n.2368G>T
ENST00000700025.1:n.1745G>T
ENST00000700026.1:n.613G>T
ENST00000706954.1:c.976G>T	ENSP00000516674.1:p.Asp326Tyr
ENST00000706955.1:c.*1011G>T	ENSP00000516675.1:n.*1011G>T
ENST00000686459.1:c.*562G>T	ENSP00000508909.1:n.*562G>T
ENST00000688158.1:c.*1087G>T	ENSP00000509254.1:n.*1087G>T
ENST00000688308.1:c.976G>T	ENSP00000508752.1:p.Asp326Tyr
ENST00000688922.1:c.897G>T
ENST00000693560.1:c.1495G>T	ENSP00000509861.1:p.Asp499Tyr
ENST00000371953.8:c.976G>T MANE Select	ENSP00000361021.3:p.Asp326Tyr
ENST00000371953.7:c.976G>T	ENSP00000361021.3:p.Asp326Tyr
ENST00000472832.2:c.403G>T	ENSP00000483066.1:p.Asp135Tyr
NM_000314.5:c.976G>T	NP_000305.3:p.Asp326Tyr
NM_000314.6:c.976G>T	NP_000305.3:p.Asp326Tyr
NM_001304717.2:c.1495G>T	NP_001291646.2:p.Asp499Tyr
NM_001304718.1:c.385G>T	NP_001291647.1:p.Asp129Tyr
XM_006717926.2:c.931G>T	XP_006717989.1:p.Asp311Tyr
XM_011539981.1:c.976G>T	XP_011538283.1:p.Asp326Tyr
XM_011539982.1:c.880G>T	XP_011538284.1:p.Asp294Tyr
XR_945791.1:n.1546G>T
NM_000314.7:c.976G>T	NP_000305.3:p.Asp326Tyr
NM_001304717.5:c.1495G>T	NP_001291646.4:p.Asp499Tyr
NM_001304718.2:c.385G>T	NP_001291647.1:p.Asp129Tyr
NM_000314.8:c.976G>T MANE Select	NP_000305.3:p.Asp326Tyr