Canonical Allele Identifier: CA377487393

Gene: PTEN

Linked Data

• ClinVar Variation Id: 924240
• ClinVar RCV Id: RCV001185444 ; RCV003509658
• dbSNP Id: rs1860738430
• MyVariant Identifiers: chr10:g.89725181G>C (hg19) ; chr10:g.87965424G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965424G>C , CM000672.2:g.87965424G>C	GRCh38
NC_000010.10:g.89725181G>C , CM000672.1:g.89725181G>C	GRCh37
NC_000010.9:g.89715161G>C	NCBI36
NG_007466.2:g.106986G>C , LRG_311:g.106986G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1257G>C	ENSP00000514759.2:p.Glu419Asp
ENST00000710265.1:c.*193G>C	ENSP00000518161.1:n.*193G>C
ENST00000688158.2:n.1899G>C
ENST00000688922.2:c.*994G>C	ENSP00000508742.2:n.*994G>C
ENST00000700021.1:c.1119G>C	ENSP00000514757.1:p.Glu373Asp
ENST00000700022.1:c.*503G>C	ENSP00000514758.1:n.*503G>C
ENST00000700023.1:n.2322G>C
ENST00000700024.1:n.2556G>C
ENST00000706954.1:c.1164G>C	ENSP00000516674.1:p.Glu388Asp
ENST00000706955.1:c.*1199G>C	ENSP00000516675.1:n.*1199G>C
ENST00000686459.1:c.*750G>C	ENSP00000508909.1:n.*750G>C
ENST00000688158.1:c.*1275G>C	ENSP00000509254.1:n.*1275G>C
ENST00000688308.1:c.1164G>C	ENSP00000508752.1:p.Glu388Asp
ENST00000688922.1:c.1085G>C
ENST00000693560.1:c.1683G>C	ENSP00000509861.1:p.Glu561Asp
ENST00000371953.8:c.1164G>C MANE Select	ENSP00000361021.3:p.Glu388Asp
ENST00000371953.7:c.1164G>C	ENSP00000361021.3:p.Glu388Asp
NM_000314.5:c.1164G>C	NP_000305.3:p.Glu388Asp
NM_000314.6:c.1164G>C	NP_000305.3:p.Glu388Asp
NM_001304717.2:c.1683G>C	NP_001291646.2:p.Glu561Asp
NM_001304718.1:c.573G>C	NP_001291647.1:p.Glu191Asp
XM_006717926.2:c.1119G>C	XP_006717989.1:p.Glu373Asp
XM_011539982.1:c.1068G>C	XP_011538284.1:p.Glu356Asp
XR_945791.1:n.1734G>C
NM_000314.7:c.1164G>C	NP_000305.3:p.Glu388Asp
NM_001304717.5:c.1683G>C	NP_001291646.4:p.Glu561Asp
NM_001304718.2:c.573G>C	NP_001291647.1:p.Glu191Asp
NM_000314.8:c.1164G>C MANE Select	NP_000305.3:p.Glu388Asp