Canonical Allele Identifier: CA501151

Gene: PTEN

Linked Data

• ClinVar Variation Id: 580731
• ClinVar RCV Id: RCV000704361 ; RCV001011640 ; RCV003453494 ; RCV003465631
• dbSNP Id: rs762518389
• COSMIC: COSM4392678
• MyVariant Identifiers: chr10:g.89653846C>A (hg19) ; chr10:g.87894089C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894089C>A , CM000672.2:g.87894089C>A	GRCh38
NC_000010.10:g.89653846C>A , CM000672.1:g.89653846C>A	GRCh37
NC_000010.9:g.89643826C>A	NCBI36
NG_007466.2:g.35651C>A , LRG_311:g.35651C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.144C>A	ENSP00000514759.2:p.Asn48Lys
ENST00000710265.1:c.144C>A	ENSP00000518161.1:p.Asn48Lys
ENST00000472832.3:c.144C>A	ENSP00000483066.2:p.Asn48Lys
ENST00000688158.2:n.899+13651C>A
ENST00000688922.2:c.144C>A	ENSP00000508742.2:p.Asn48Lys
ENST00000700021.1:c.144C>A	ENSP00000514757.1:p.Asn48Lys
ENST00000700022.1:c.144C>A	ENSP00000514758.1:p.Asn48Lys
ENST00000706954.1:c.144C>A	ENSP00000516674.1:p.Asn48Lys
ENST00000706955.1:c.*179C>A	ENSP00000516675.1:n.*179C>A
ENST00000686459.1:c.144C>A	ENSP00000508909.1:p.Asn48Lys
ENST00000688158.1:c.*275+13651C>A	ENSP00000509254.1:n.*275+13651C>A
ENST00000688308.1:c.144C>A	ENSP00000508752.1:p.Asn48Lys
ENST00000688922.1:c.13C>A
ENST00000693560.1:c.663C>A	ENSP00000509861.1:p.Asn221Lys
ENST00000371953.8:c.144C>A MANE Select	ENSP00000361021.3:p.Asn48Lys
ENST00000371953.7:c.144C>A	ENSP00000361021.3:p.Asn48Lys
ENST00000462694.1:n.146C>A
ENST00000610634.1:c.42C>A	ENSP00000477517.1:p.Asn14Lys
NM_000314.5:c.144C>A	NP_000305.3:p.Asn48Lys
NM_000314.6:c.144C>A	NP_000305.3:p.Asn48Lys
NM_001304717.2:c.663C>A	NP_001291646.2:p.Asn221Lys
NM_001304718.1:c.-562C>A	NP_001291647.1:n.-562C>A
XM_006717926.2:c.144C>A	XP_006717989.1:p.Asn48Lys
XM_011539981.1:c.144C>A	XP_011538283.1:p.Asn48Lys
XM_011539982.1:c.68+13651C>A	XP_011538284.1:n.68+13651C>A
XR_945789.1:n.856C>A
XR_945790.1:n.856C>A
XR_945791.1:n.856C>A
NM_000314.7:c.144C>A	NP_000305.3:p.Asn48Lys
NM_001304717.5:c.663C>A	NP_001291646.4:p.Asn221Lys
NM_001304718.2:c.-562C>A	NP_001291647.1:n.-562C>A
NM_000314.8:c.144C>A MANE Select	NP_000305.3:p.Asn48Lys