Canonical Allele Identifier: CA377487441

Gene: PTEN

Linked Data

• dbSNP Id: rs2132290244
• MyVariant Identifiers: chr10:g.89725200G>C (hg19) ; chr10:g.87965443G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965443G>C , CM000672.2:g.87965443G>C	GRCh38
NC_000010.10:g.89725200G>C , CM000672.1:g.89725200G>C	GRCh37
NC_000010.9:g.89715180G>C	NCBI36
NG_007466.2:g.107005G>C , LRG_311:g.107005G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1276G>C	ENSP00000514759.2:p.Asp426His
ENST00000710265.1:c.*212G>C	ENSP00000518161.1:n.*212G>C
ENST00000688158.2:n.1918G>C
ENST00000688922.2:c.*1013G>C	ENSP00000508742.2:n.*1013G>C
ENST00000700021.1:c.1138G>C	ENSP00000514757.1:p.Asp380His
ENST00000700022.1:c.*522G>C	ENSP00000514758.1:n.*522G>C
ENST00000700023.1:n.2341G>C
ENST00000700024.1:n.2575G>C
ENST00000706954.1:c.1183G>C	ENSP00000516674.1:p.Asp395His
ENST00000706955.1:c.*1218G>C	ENSP00000516675.1:n.*1218G>C
ENST00000686459.1:c.*769G>C	ENSP00000508909.1:n.*769G>C
ENST00000688158.1:c.*1294G>C	ENSP00000509254.1:n.*1294G>C
ENST00000688308.1:c.1183G>C	ENSP00000508752.1:p.Asp395His
ENST00000688922.1:c.1104G>C
ENST00000693560.1:c.1702G>C	ENSP00000509861.1:p.Asp568His
ENST00000371953.8:c.1183G>C MANE Select	ENSP00000361021.3:p.Asp395His
ENST00000371953.7:c.1183G>C	ENSP00000361021.3:p.Asp395His
NM_000314.5:c.1183G>C	NP_000305.3:p.Asp395His
NM_000314.6:c.1183G>C	NP_000305.3:p.Asp395His
NM_001304717.2:c.1702G>C	NP_001291646.2:p.Asp568His
NM_001304718.1:c.592G>C	NP_001291647.1:p.Asp198His
XM_006717926.2:c.1138G>C	XP_006717989.1:p.Asp380His
XM_011539982.1:c.1087G>C	XP_011538284.1:p.Asp363His
XR_945791.1:n.1753G>C
NM_000314.7:c.1183G>C	NP_000305.3:p.Asp395His
NM_001304717.5:c.1702G>C	NP_001291646.4:p.Asp568His
NM_001304718.2:c.592G>C	NP_001291647.1:p.Asp198His
NM_000314.8:c.1183G>C MANE Select	NP_000305.3:p.Asp395His