Canonical Allele Identifier: CA377486049

Gene: PTEN

Linked Data

• ClinVar Variation Id: 834923
• ClinVar RCV Id: RCV001035707 ; RCV002372744
• dbSNP Id: rs1860630615
• MyVariant Identifiers: chr10:g.89720821T>A (hg19) ; chr10:g.87961064T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961064T>A , CM000672.2:g.87961064T>A	GRCh38
NC_000010.10:g.89720821T>A , CM000672.1:g.89720821T>A	GRCh37
NC_000010.9:g.89710801T>A	NCBI36
NG_007466.2:g.102626T>A , LRG_311:g.102626T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1065T>A	ENSP00000514759.2:p.Asp355Glu
ENST00000710265.1:c.972T>A	ENSP00000518161.1:p.Asp324Glu
ENST00000472832.3:c.972T>A	ENSP00000483066.2:p.Asp324Glu
ENST00000688158.2:n.1707T>A
ENST00000688922.2:c.*802T>A	ENSP00000508742.2:n.*802T>A
ENST00000700021.1:c.927T>A	ENSP00000514757.1:p.Asp309Glu
ENST00000700022.1:c.*311T>A	ENSP00000514758.1:n.*311T>A
ENST00000700023.1:n.2130T>A
ENST00000700024.1:n.2364T>A
ENST00000700025.1:n.1741T>A
ENST00000700026.1:n.609T>A
ENST00000706954.1:c.972T>A	ENSP00000516674.1:p.Asp324Glu
ENST00000706955.1:c.*1007T>A	ENSP00000516675.1:n.*1007T>A
ENST00000686459.1:c.*558T>A	ENSP00000508909.1:n.*558T>A
ENST00000688158.1:c.*1083T>A	ENSP00000509254.1:n.*1083T>A
ENST00000688308.1:c.972T>A	ENSP00000508752.1:p.Asp324Glu
ENST00000688922.1:c.893T>A
ENST00000693560.1:c.1491T>A	ENSP00000509861.1:p.Asp497Glu
ENST00000371953.8:c.972T>A MANE Select	ENSP00000361021.3:p.Asp324Glu
ENST00000371953.7:c.972T>A	ENSP00000361021.3:p.Asp324Glu
ENST00000472832.2:c.399T>A	ENSP00000483066.1:p.Asp133Glu
NM_000314.5:c.972T>A	NP_000305.3:p.Asp324Glu
NM_000314.6:c.972T>A	NP_000305.3:p.Asp324Glu
NM_001304717.2:c.1491T>A	NP_001291646.2:p.Asp497Glu
NM_001304718.1:c.381T>A	NP_001291647.1:p.Asp127Glu
XM_006717926.2:c.927T>A	XP_006717989.1:p.Asp309Glu
XM_011539981.1:c.972T>A	XP_011538283.1:p.Asp324Glu
XM_011539982.1:c.876T>A	XP_011538284.1:p.Asp292Glu
XR_945791.1:n.1542T>A
NM_000314.7:c.972T>A	NP_000305.3:p.Asp324Glu
NM_001304717.5:c.1491T>A	NP_001291646.4:p.Asp497Glu
NM_001304718.2:c.381T>A	NP_001291647.1:p.Asp127Glu
NM_000314.8:c.972T>A MANE Select	NP_000305.3:p.Asp324Glu