Canonical Allele Identifier: CA913188334

Gene: PTEN

Linked Data

• ClinVar Variation Id: 923543
• ClinVar RCV Id: RCV001184351
• dbSNP Id: rs1860741453

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965489A>C , CM000672.2:g.87965489A>C	GRCh38
NC_000010.10:g.89725246A>C , CM000672.1:g.89725246A>C	GRCh37
NC_000010.9:g.89715226A>C	NCBI36
NG_007466.2:g.107051A>C , LRG_311:g.107051A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.*17A>C	ENSP00000514759.2:n.*17A>C
ENST00000710265.1:c.*258A>C	ENSP00000518161.1:n.*258A>C
ENST00000688158.2:n.1964A>C
ENST00000688922.2:c.*1059A>C	ENSP00000508742.2:n.*1059A>C
ENST00000700021.1:c.*17A>C	ENSP00000514757.1:n.*17A>C
ENST00000700022.1:c.*568A>C	ENSP00000514758.1:n.*568A>C
ENST00000700023.1:n.2387A>C
ENST00000700024.1:n.2621A>C
ENST00000706954.1:c.*17A>C	ENSP00000516674.1:n.*17A>C
ENST00000706955.1:c.*1264A>C	ENSP00000516675.1:n.*1264A>C
ENST00000686459.1:c.*815A>C	ENSP00000508909.1:n.*815A>C
ENST00000688158.1:c.*1340A>C	ENSP00000509254.1:n.*1340A>C
ENST00000688308.1:c.*17A>C	ENSP00000508752.1:n.*17A>C
ENST00000688922.1:c.1150A>C
ENST00000693560.1:c.*17A>C	ENSP00000509861.1:n.*17A>C
ENST00000371953.8:c.*17A>C MANE Select	ENSP00000361021.3:n.*17A>C
ENST00000371953.7:c.*17A>C	ENSP00000361021.3:n.*17A>C
NM_000314.5:c.*17A>C	NP_000305.3:n.*17A>C
NM_000314.6:c.*17A>C	NP_000305.3:n.*17A>C
NM_001304717.2:c.*17A>C	NP_001291646.2:n.*17A>C
NM_001304718.1:c.*17A>C	NP_001291647.1:n.*17A>C
XM_006717926.2:c.*17A>C	XP_006717989.1:n.*17A>C
XM_011539982.1:c.*17A>C	XP_011538284.1:n.*17A>C
XR_945791.1:n.1799A>C
NM_000314.7:c.*17A>C	NP_000305.3:n.*17A>C
NM_001304717.5:c.*17A>C	NP_001291646.4:n.*17A>C
NM_001304718.2:c.*17A>C	NP_001291647.1:n.*17A>C
NM_000314.8:c.*17A>C MANE Select	NP_000305.3:n.*17A>C