Canonical Allele Identifier: CA377486122

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2001625
• ClinVar RCV Id: RCV002832785
• dbSNP Id: rs1206321984
• MyVariant Identifiers: chr10:g.89720850A>T (hg19) ; chr10:g.87961093A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961093A>T , CM000672.2:g.87961093A>T	GRCh38
NC_000010.10:g.89720850A>T , CM000672.1:g.89720850A>T	GRCh37
NC_000010.9:g.89710830A>T	NCBI36
NG_007466.2:g.102655A>T , LRG_311:g.102655A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1094A>T	ENSP00000514759.2:p.Asn365Ile
ENST00000710265.1:c.1001A>T	ENSP00000518161.1:p.Asn334Ile
ENST00000472832.3:c.1001A>T	ENSP00000483066.2:p.Asn334Ile
ENST00000688158.2:n.1736A>T
ENST00000688922.2:c.*831A>T	ENSP00000508742.2:n.*831A>T
ENST00000700021.1:c.956A>T	ENSP00000514757.1:p.Asn319Ile
ENST00000700022.1:c.*340A>T	ENSP00000514758.1:n.*340A>T
ENST00000700023.1:n.2159A>T
ENST00000700024.1:n.2393A>T
ENST00000700025.1:n.1770A>T
ENST00000700026.1:n.638A>T
ENST00000706954.1:c.1001A>T	ENSP00000516674.1:p.Asn334Ile
ENST00000706955.1:c.*1036A>T	ENSP00000516675.1:n.*1036A>T
ENST00000686459.1:c.*587A>T	ENSP00000508909.1:n.*587A>T
ENST00000688158.1:c.*1112A>T	ENSP00000509254.1:n.*1112A>T
ENST00000688308.1:c.1001A>T	ENSP00000508752.1:p.Asn334Ile
ENST00000688922.1:c.922A>T
ENST00000693560.1:c.1520A>T	ENSP00000509861.1:p.Asn507Ile
ENST00000371953.8:c.1001A>T MANE Select	ENSP00000361021.3:p.Asn334Ile
ENST00000371953.7:c.1001A>T	ENSP00000361021.3:p.Asn334Ile
ENST00000472832.2:c.428A>T	ENSP00000483066.1:p.Asn143Ile
NM_000314.5:c.1001A>T	NP_000305.3:p.Asn334Ile
NM_000314.6:c.1001A>T	NP_000305.3:p.Asn334Ile
NM_001304717.2:c.1520A>T	NP_001291646.2:p.Asn507Ile
NM_001304718.1:c.410A>T	NP_001291647.1:p.Asn137Ile
XM_006717926.2:c.956A>T	XP_006717989.1:p.Asn319Ile
XM_011539981.1:c.1001A>T	XP_011538283.1:p.Asn334Ile
XM_011539982.1:c.905A>T	XP_011538284.1:p.Asn302Ile
XR_945791.1:n.1571A>T
NM_000314.7:c.1001A>T	NP_000305.3:p.Asn334Ile
NM_001304717.5:c.1520A>T	NP_001291646.4:p.Asn507Ile
NM_001304718.2:c.410A>T	NP_001291647.1:p.Asn137Ile
NM_000314.8:c.1001A>T MANE Select	NP_000305.3:p.Asn334Ile