Canonical Allele Identifier: CA059529

Gene: PTEN

Linked Data

• ClinVar Variation Id: 379793
• ClinVar RCV Id: RCV000439463 ; RCV000582603 ; RCV000461856 ; RCV000663242 ; RCV001729584 ; RCV001798800
• dbSNP Id: rs751744545
• ExAC: 10:89690794 T / C
• gnomAD v2: 10-89690794-T-C
• gnomAD v3: 10-87931037-T-C
• gnomAD v4: 10-87931037-T-C
• MyVariant Identifiers: chr10:g.89690794T>C (hg19) ; chr10:g.87931037T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87931037T>C , CM000672.2:g.87931037T>C	GRCh38
NC_000010.10:g.89690794T>C , CM000672.1:g.89690794T>C	GRCh37
NC_000010.9:g.89680774T>C	NCBI36
NG_007466.2:g.72599T>C , LRG_311:g.72599T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.210-9T>C	ENSP00000514759.2:n.210-9T>C
ENST00000710265.1:c.210-9T>C	ENSP00000518161.1:n.210-9T>C
ENST00000472832.3:c.210-9T>C	ENSP00000483066.2:n.210-9T>C
ENST00000688158.2:n.945-9T>C
ENST00000688922.2:c.*40-9T>C	ENSP00000508742.2:n.*40-9T>C
ENST00000700021.1:c.165-9T>C	ENSP00000514757.1:n.165-9T>C
ENST00000700022.1:c.210-9T>C	ENSP00000514758.1:n.210-9T>C
ENST00000700029.1:c.44-9T>C
ENST00000706954.1:c.210-9T>C	ENSP00000516674.1:n.210-9T>C
ENST00000706955.1:c.*245-9T>C	ENSP00000516675.1:n.*245-9T>C
ENST00000686459.1:c.210-9T>C	ENSP00000508909.1:n.210-9T>C
ENST00000688158.1:c.*321-9T>C	ENSP00000509254.1:n.*321-9T>C
ENST00000688308.1:c.210-9T>C	ENSP00000508752.1:n.210-9T>C
ENST00000688922.1:c.131-9T>C
ENST00000693560.1:c.729-9T>C	ENSP00000509861.1:n.729-9T>C
ENST00000371953.8:c.210-9T>C MANE Select	ENSP00000361021.3:n.210-9T>C
ENST00000371953.7:c.210-9T>C	ENSP00000361021.3:n.210-9T>C
ENST00000498703.1:n.36-9T>C
ENST00000610634.1:c.108-9T>C	ENSP00000477517.1:n.108-9T>C
NM_000314.5:c.210-9T>C	NP_000305.3:n.210-9T>C
NM_000314.6:c.210-9T>C	NP_000305.3:n.210-9T>C
NM_001304717.2:c.729-9T>C	NP_001291646.2:n.729-9T>C
NM_001304718.1:c.-541-9T>C	NP_001291647.1:n.-541-9T>C
XM_006717926.2:c.165-9T>C	XP_006717989.1:n.165-9T>C
XM_011539981.1:c.210-9T>C	XP_011538283.1:n.210-9T>C
XM_011539982.1:c.114-9T>C	XP_011538284.1:n.114-9T>C
XR_945789.1:n.922-9T>C
XR_945790.1:n.922-9T>C
XR_945791.1:n.922-9T>C
NM_000314.7:c.210-9T>C	NP_000305.3:n.210-9T>C
NM_001304717.5:c.729-9T>C	NP_001291646.4:n.729-9T>C
NM_001304718.2:c.-541-9T>C	NP_001291647.1:n.-541-9T>C
NM_000314.8:c.210-9T>C MANE Select	NP_000305.3:n.210-9T>C