Canonical Allele Identifier: CA377485620

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2814779
• ClinVar RCV Id: RCV003620758
• dbSNP Id: rs2132282110
• MyVariant Identifiers: chr10:g.89720706C>A (hg19) ; chr10:g.87960949C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960949C>A , CM000672.2:g.87960949C>A	GRCh38
NC_000010.10:g.89720706C>A , CM000672.1:g.89720706C>A	GRCh37
NC_000010.9:g.89710686C>A	NCBI36
NG_007466.2:g.102511C>A , LRG_311:g.102511C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.950C>A	ENSP00000514759.2:p.Thr317Asn
ENST00000710265.1:c.857C>A	ENSP00000518161.1:p.Thr286Asn
ENST00000472832.3:c.857C>A	ENSP00000483066.2:p.Thr286Asn
ENST00000688158.2:n.1592C>A
ENST00000688922.2:c.*687C>A	ENSP00000508742.2:n.*687C>A
ENST00000700021.1:c.812C>A	ENSP00000514757.1:p.Thr271Asn
ENST00000700022.1:c.*196C>A	ENSP00000514758.1:n.*196C>A
ENST00000700023.1:n.2015C>A
ENST00000700024.1:n.2249C>A
ENST00000700025.1:n.1626C>A
ENST00000700026.1:n.494C>A
ENST00000700029.1:c.784C>A
ENST00000706954.1:c.857C>A	ENSP00000516674.1:p.Thr286Asn
ENST00000706955.1:c.*892C>A	ENSP00000516675.1:n.*892C>A
ENST00000686459.1:c.*443C>A	ENSP00000508909.1:n.*443C>A
ENST00000688158.1:c.*968C>A	ENSP00000509254.1:n.*968C>A
ENST00000688308.1:c.857C>A	ENSP00000508752.1:p.Thr286Asn
ENST00000688922.1:c.778C>A
ENST00000693560.1:c.1376C>A	ENSP00000509861.1:p.Thr459Asn
ENST00000371953.8:c.857C>A MANE Select	ENSP00000361021.3:p.Thr286Asn
ENST00000371953.7:c.857C>A	ENSP00000361021.3:p.Thr286Asn
ENST00000472832.2:c.284C>A	ENSP00000483066.1:p.Thr95Asn
NM_000314.5:c.857C>A	NP_000305.3:p.Thr286Asn
NM_000314.6:c.857C>A	NP_000305.3:p.Thr286Asn
NM_001304717.2:c.1376C>A	NP_001291646.2:p.Thr459Asn
NM_001304718.1:c.266C>A	NP_001291647.1:p.Thr89Asn
XM_006717926.2:c.812C>A	XP_006717989.1:p.Thr271Asn
XM_011539981.1:c.857C>A	XP_011538283.1:p.Thr286Asn
XM_011539982.1:c.761C>A	XP_011538284.1:p.Thr254Asn
XR_945791.1:n.1427C>A
NM_000314.7:c.857C>A	NP_000305.3:p.Thr286Asn
NM_001304717.5:c.1376C>A	NP_001291646.4:p.Thr459Asn
NM_001304718.2:c.266C>A	NP_001291647.1:p.Thr89Asn
NM_000314.8:c.857C>A MANE Select	NP_000305.3:p.Thr286Asn