Canonical Allele Identifier: CA913188335

Gene: PTEN

Linked Data

• ClinVar Variation Id: 629027
• ClinVar RCV Id: RCV000773713
• dbSNP Id: rs1564570557

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965492G>T , CM000672.2:g.87965492G>T	GRCh38
NC_000010.10:g.89725249G>T , CM000672.1:g.89725249G>T	GRCh37
NC_000010.9:g.89715229G>T	NCBI36
NG_007466.2:g.107054G>T , LRG_311:g.107054G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.*20G>T	ENSP00000514759.2:n.*20G>T
ENST00000710265.1:c.*261G>T	ENSP00000518161.1:n.*261G>T
ENST00000688158.2:n.1967G>T
ENST00000688922.2:c.*1062G>T	ENSP00000508742.2:n.*1062G>T
ENST00000700021.1:c.*20G>T	ENSP00000514757.1:n.*20G>T
ENST00000700022.1:c.*571G>T	ENSP00000514758.1:n.*571G>T
ENST00000700023.1:n.2390G>T
ENST00000700024.1:n.2624G>T
ENST00000706954.1:c.*20G>T	ENSP00000516674.1:n.*20G>T
ENST00000706955.1:c.*1267G>T	ENSP00000516675.1:n.*1267G>T
ENST00000686459.1:c.*818G>T	ENSP00000508909.1:n.*818G>T
ENST00000688158.1:c.*1343G>T	ENSP00000509254.1:n.*1343G>T
ENST00000688308.1:c.*20G>T	ENSP00000508752.1:n.*20G>T
ENST00000688922.1:c.1153G>T
ENST00000693560.1:c.*20G>T	ENSP00000509861.1:n.*20G>T
ENST00000371953.8:c.*20G>T MANE Select	ENSP00000361021.3:n.*20G>T
ENST00000371953.7:c.*20G>T	ENSP00000361021.3:n.*20G>T
NM_000314.5:c.*20G>T	NP_000305.3:n.*20G>T
NM_000314.6:c.*20G>T	NP_000305.3:n.*20G>T
NM_001304717.2:c.*20G>T	NP_001291646.2:n.*20G>T
NM_001304718.1:c.*20G>T	NP_001291647.1:n.*20G>T
XM_006717926.2:c.*20G>T	XP_006717989.1:n.*20G>T
XM_011539982.1:c.*20G>T	XP_011538284.1:n.*20G>T
XR_945791.1:n.1802G>T
NM_000314.7:c.*20G>T	NP_000305.3:n.*20G>T
NM_001304717.5:c.*20G>T	NP_001291646.4:n.*20G>T
NM_001304718.2:c.*20G>T	NP_001291647.1:n.*20G>T
NM_000314.8:c.*20G>T MANE Select	NP_000305.3:n.*20G>T