Canonical Allele Identifier: CA377487475

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1318532
• ClinVar RCV Id: RCV001753307
• dbSNP Id: rs374684043
• MyVariant Identifiers: chr10:g.89725214A>T (hg19) ; chr10:g.87965457A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965457A>T , CM000672.2:g.87965457A>T	GRCh38
NC_000010.10:g.89725214A>T , CM000672.1:g.89725214A>T	GRCh37
NC_000010.9:g.89715194A>T	NCBI36
NG_007466.2:g.107019A>T , LRG_311:g.107019A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1290A>T	ENSP00000514759.2:p.Gln430His
ENST00000710265.1:c.*226A>T	ENSP00000518161.1:n.*226A>T
ENST00000688158.2:n.1932A>T
ENST00000688922.2:c.*1027A>T	ENSP00000508742.2:n.*1027A>T
ENST00000700021.1:c.1152A>T	ENSP00000514757.1:p.Gln384His
ENST00000700022.1:c.*536A>T	ENSP00000514758.1:n.*536A>T
ENST00000700023.1:n.2355A>T
ENST00000700024.1:n.2589A>T
ENST00000706954.1:c.1197A>T	ENSP00000516674.1:p.Gln399His
ENST00000706955.1:c.*1232A>T	ENSP00000516675.1:n.*1232A>T
ENST00000686459.1:c.*783A>T	ENSP00000508909.1:n.*783A>T
ENST00000688158.1:c.*1308A>T	ENSP00000509254.1:n.*1308A>T
ENST00000688308.1:c.1197A>T	ENSP00000508752.1:p.Gln399His
ENST00000688922.1:c.1118A>T
ENST00000693560.1:c.1716A>T	ENSP00000509861.1:p.Gln572His
ENST00000371953.8:c.1197A>T MANE Select	ENSP00000361021.3:p.Gln399His
ENST00000371953.7:c.1197A>T	ENSP00000361021.3:p.Gln399His
NM_000314.5:c.1197A>T	NP_000305.3:p.Gln399His
NM_000314.6:c.1197A>T	NP_000305.3:p.Gln399His
NM_001304717.2:c.1716A>T	NP_001291646.2:p.Gln572His
NM_001304718.1:c.606A>T	NP_001291647.1:p.Gln202His
XM_006717926.2:c.1152A>T	XP_006717989.1:p.Gln384His
XM_011539982.1:c.1101A>T	XP_011538284.1:p.Gln367His
XR_945791.1:n.1767A>T
NM_000314.7:c.1197A>T	NP_000305.3:p.Gln399His
NM_001304717.5:c.1716A>T	NP_001291646.4:p.Gln572His
NM_001304718.2:c.606A>T	NP_001291647.1:p.Gln202His
NM_000314.8:c.1197A>T MANE Select	NP_000305.3:p.Gln399His