Canonical Allele Identifier: CA377485494

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1762552
• ClinVar RCV Id: RCV002412525
• dbSNP Id: rs587782607
• MyVariant Identifiers: chr10:g.89720671G>C (hg19) ; chr10:g.87960914G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960914G>C , CM000672.2:g.87960914G>C	GRCh38
NC_000010.10:g.89720671G>C , CM000672.1:g.89720671G>C	GRCh37
NC_000010.9:g.89710651G>C	NCBI36
NG_007466.2:g.102476G>C , LRG_311:g.102476G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.915G>C	ENSP00000514759.2:p.Trp305Cys
ENST00000710265.1:c.822G>C	ENSP00000518161.1:p.Trp274Cys
ENST00000472832.3:c.822G>C	ENSP00000483066.2:p.Trp274Cys
ENST00000688158.2:n.1557G>C
ENST00000688922.2:c.*652G>C	ENSP00000508742.2:n.*652G>C
ENST00000700021.1:c.777G>C	ENSP00000514757.1:p.Trp259Cys
ENST00000700022.1:c.*161G>C	ENSP00000514758.1:n.*161G>C
ENST00000700023.1:n.1980G>C
ENST00000700024.1:n.2214G>C
ENST00000700025.1:n.1591G>C
ENST00000700026.1:n.459G>C
ENST00000700029.1:c.749G>C
ENST00000706954.1:c.822G>C	ENSP00000516674.1:p.Trp274Cys
ENST00000706955.1:c.*857G>C	ENSP00000516675.1:n.*857G>C
ENST00000686459.1:c.*408G>C	ENSP00000508909.1:n.*408G>C
ENST00000688158.1:c.*933G>C	ENSP00000509254.1:n.*933G>C
ENST00000688308.1:c.822G>C	ENSP00000508752.1:p.Trp274Cys
ENST00000688922.1:c.743G>C
ENST00000693560.1:c.1341G>C	ENSP00000509861.1:p.Trp447Cys
ENST00000371953.8:c.822G>C MANE Select	ENSP00000361021.3:p.Trp274Cys
ENST00000371953.7:c.822G>C	ENSP00000361021.3:p.Trp274Cys
ENST00000472832.2:c.249G>C	ENSP00000483066.1:p.Trp83Cys
NM_000314.5:c.822G>C	NP_000305.3:p.Trp274Cys
NM_000314.6:c.822G>C	NP_000305.3:p.Trp274Cys
NM_001304717.2:c.1341G>C	NP_001291646.2:p.Trp447Cys
NM_001304718.1:c.231G>C	NP_001291647.1:p.Trp77Cys
XM_006717926.2:c.777G>C	XP_006717989.1:p.Trp259Cys
XM_011539981.1:c.822G>C	XP_011538283.1:p.Trp274Cys
XM_011539982.1:c.726G>C	XP_011538284.1:p.Trp242Cys
XR_945791.1:n.1392G>C
NM_000314.7:c.822G>C	NP_000305.3:p.Trp274Cys
NM_001304717.5:c.1341G>C	NP_001291646.4:p.Trp447Cys
NM_001304718.2:c.231G>C	NP_001291647.1:p.Trp77Cys
NM_000314.8:c.822G>C MANE Select	NP_000305.3:p.Trp274Cys