Canonical Allele Identifier: CA377485877

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1766444
• ClinVar RCV Id: RCV002371485
• dbSNP Id: rs2132282787
• gnomAD v4: 10-87961020-G-A
• MyVariant Identifiers: chr10:g.89720777G>A (hg19) ; chr10:g.87961020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961020G>A , CM000672.2:g.87961020G>A	GRCh38
NC_000010.10:g.89720777G>A , CM000672.1:g.89720777G>A	GRCh37
NC_000010.9:g.89710757G>A	NCBI36
NG_007466.2:g.102582G>A , LRG_311:g.102582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1021G>A	ENSP00000514759.2:p.Asp341Asn
ENST00000710265.1:c.928G>A	ENSP00000518161.1:p.Asp310Asn
ENST00000472832.3:c.928G>A	ENSP00000483066.2:p.Asp310Asn
ENST00000688158.2:n.1663G>A
ENST00000688922.2:c.*758G>A	ENSP00000508742.2:n.*758G>A
ENST00000700021.1:c.883G>A	ENSP00000514757.1:p.Asp295Asn
ENST00000700022.1:c.*267G>A	ENSP00000514758.1:n.*267G>A
ENST00000700023.1:n.2086G>A
ENST00000700024.1:n.2320G>A
ENST00000700025.1:n.1697G>A
ENST00000700026.1:n.565G>A
ENST00000706954.1:c.928G>A	ENSP00000516674.1:p.Asp310Asn
ENST00000706955.1:c.*963G>A	ENSP00000516675.1:n.*963G>A
ENST00000686459.1:c.*514G>A	ENSP00000508909.1:n.*514G>A
ENST00000688158.1:c.*1039G>A	ENSP00000509254.1:n.*1039G>A
ENST00000688308.1:c.928G>A	ENSP00000508752.1:p.Asp310Asn
ENST00000688922.1:c.849G>A
ENST00000693560.1:c.1447G>A	ENSP00000509861.1:p.Asp483Asn
ENST00000371953.8:c.928G>A MANE Select	ENSP00000361021.3:p.Asp310Asn
ENST00000371953.7:c.928G>A	ENSP00000361021.3:p.Asp310Asn
ENST00000472832.2:c.355G>A	ENSP00000483066.1:p.Asp119Asn
NM_000314.5:c.928G>A	NP_000305.3:p.Asp310Asn
NM_000314.6:c.928G>A	NP_000305.3:p.Asp310Asn
NM_001304717.2:c.1447G>A	NP_001291646.2:p.Asp483Asn
NM_001304718.1:c.337G>A	NP_001291647.1:p.Asp113Asn
XM_006717926.2:c.883G>A	XP_006717989.1:p.Asp295Asn
XM_011539981.1:c.928G>A	XP_011538283.1:p.Asp310Asn
XM_011539982.1:c.832G>A	XP_011538284.1:p.Asp278Asn
XR_945791.1:n.1498G>A
NM_000314.7:c.928G>A	NP_000305.3:p.Asp310Asn
NM_001304717.5:c.1447G>A	NP_001291646.4:p.Asp483Asn
NM_001304718.2:c.337G>A	NP_001291647.1:p.Asp113Asn
NM_000314.8:c.928G>A MANE Select	NP_000305.3:p.Asp310Asn