Canonical Allele Identifier: CA658683583

Gene: PTEN

Linked Data

• ClinVar Variation Id: 490115
• ClinVar RCV Id: RCV000580304 ; RCV000799686
• dbSNP Id: rs1554825148
• MyVariant Identifiers: chr10:g.89717603C>A (hg19) ; chr10:g.87957846C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957846C>A , CM000672.2:g.87957846C>A	GRCh38
NC_000010.10:g.89717603C>A , CM000672.1:g.89717603C>A	GRCh37
NC_000010.9:g.89707583C>A	NCBI36
NG_007466.2:g.99408C>A , LRG_311:g.99408C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.635-7C>A	ENSP00000514759.2:n.635-7C>A
ENST00000710265.1:c.635-7C>A	ENSP00000518161.1:n.635-7C>A
ENST00000472832.3:c.635-7C>A	ENSP00000483066.2:n.635-7C>A
ENST00000688158.2:n.1370-7C>A
ENST00000688922.2:c.*465-7C>A	ENSP00000508742.2:n.*465-7C>A
ENST00000700021.1:c.590-7C>A	ENSP00000514757.1:n.590-7C>A
ENST00000700022.1:c.493-7C>A	ENSP00000514758.1:n.493-7C>A
ENST00000700023.1:n.1793-7C>A
ENST00000700024.1:n.2027-7C>A
ENST00000700025.1:n.1404-7C>A
ENST00000700026.1:n.265C>A
ENST00000700029.1:c.469-7C>A
ENST00000706954.1:c.635-7C>A	ENSP00000516674.1:n.635-7C>A
ENST00000706955.1:c.*670-7C>A	ENSP00000516675.1:n.*670-7C>A
ENST00000686459.1:c.*221-7C>A	ENSP00000508909.1:n.*221-7C>A
ENST00000688158.1:c.*746-7C>A	ENSP00000509254.1:n.*746-7C>A
ENST00000688308.1:c.635-7C>A	ENSP00000508752.1:n.635-7C>A
ENST00000688922.1:c.556-7C>A
ENST00000693560.1:c.1154-7C>A	ENSP00000509861.1:n.1154-7C>A
ENST00000371953.8:c.635-7C>A MANE Select	ENSP00000361021.3:n.635-7C>A
ENST00000371953.7:c.635-7C>A	ENSP00000361021.3:n.635-7C>A
ENST00000472832.2:c.62-7C>A	ENSP00000483066.1:n.62-7C>A
NM_000314.5:c.635-7C>A	NP_000305.3:n.635-7C>A
NM_000314.6:c.635-7C>A	NP_000305.3:n.635-7C>A
NM_001304717.2:c.1154-7C>A	NP_001291646.2:n.1154-7C>A
NM_001304718.1:c.44-7C>A	NP_001291647.1:n.44-7C>A
XM_006717926.2:c.590-7C>A	XP_006717989.1:n.590-7C>A
XM_011539981.1:c.635-7C>A	XP_011538283.1:n.635-7C>A
XM_011539982.1:c.539-7C>A	XP_011538284.1:n.539-7C>A
XR_945791.1:n.1205-7C>A
NM_000314.7:c.635-7C>A	NP_000305.3:n.635-7C>A
NM_001304717.5:c.1154-7C>A	NP_001291646.4:n.1154-7C>A
NM_001304718.2:c.44-7C>A	NP_001291647.1:n.44-7C>A
NM_000314.8:c.635-7C>A MANE Select	NP_000305.3:n.635-7C>A