Canonical Allele Identifier: CA377485950

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1766981
• ClinVar RCV Id: RCV002443448
• dbSNP Id: rs2132282991
• MyVariant Identifiers: chr10:g.89720793A>T (hg19) ; chr10:g.87961036A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961036A>T , CM000672.2:g.87961036A>T	GRCh38
NC_000010.10:g.89720793A>T , CM000672.1:g.89720793A>T	GRCh37
NC_000010.9:g.89710773A>T	NCBI36
NG_007466.2:g.102598A>T , LRG_311:g.102598A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1037A>T	ENSP00000514759.2:p.Tyr346Phe
ENST00000710265.1:c.944A>T	ENSP00000518161.1:p.Tyr315Phe
ENST00000472832.3:c.944A>T	ENSP00000483066.2:p.Tyr315Phe
ENST00000688158.2:n.1679A>T
ENST00000688922.2:c.*774A>T	ENSP00000508742.2:n.*774A>T
ENST00000700021.1:c.899A>T	ENSP00000514757.1:p.Tyr300Phe
ENST00000700022.1:c.*283A>T	ENSP00000514758.1:n.*283A>T
ENST00000700023.1:n.2102A>T
ENST00000700024.1:n.2336A>T
ENST00000700025.1:n.1713A>T
ENST00000700026.1:n.581A>T
ENST00000706954.1:c.944A>T	ENSP00000516674.1:p.Tyr315Phe
ENST00000706955.1:c.*979A>T	ENSP00000516675.1:n.*979A>T
ENST00000686459.1:c.*530A>T	ENSP00000508909.1:n.*530A>T
ENST00000688158.1:c.*1055A>T	ENSP00000509254.1:n.*1055A>T
ENST00000688308.1:c.944A>T	ENSP00000508752.1:p.Tyr315Phe
ENST00000688922.1:c.865A>T
ENST00000693560.1:c.1463A>T	ENSP00000509861.1:p.Tyr488Phe
ENST00000371953.8:c.944A>T MANE Select	ENSP00000361021.3:p.Tyr315Phe
ENST00000371953.7:c.944A>T	ENSP00000361021.3:p.Tyr315Phe
ENST00000472832.2:c.371A>T	ENSP00000483066.1:p.Tyr124Phe
NM_000314.5:c.944A>T	NP_000305.3:p.Tyr315Phe
NM_000314.6:c.944A>T	NP_000305.3:p.Tyr315Phe
NM_001304717.2:c.1463A>T	NP_001291646.2:p.Tyr488Phe
NM_001304718.1:c.353A>T	NP_001291647.1:p.Tyr118Phe
XM_006717926.2:c.899A>T	XP_006717989.1:p.Tyr300Phe
XM_011539981.1:c.944A>T	XP_011538283.1:p.Tyr315Phe
XM_011539982.1:c.848A>T	XP_011538284.1:p.Tyr283Phe
XR_945791.1:n.1514A>T
NM_000314.7:c.944A>T	NP_000305.3:p.Tyr315Phe
NM_001304717.5:c.1463A>T	NP_001291646.4:p.Tyr488Phe
NM_001304718.2:c.353A>T	NP_001291647.1:p.Tyr118Phe
NM_000314.8:c.944A>T MANE Select	NP_000305.3:p.Tyr315Phe