Canonical Allele Identifier: CA10636801

Gene: PTEN

Linked Data

• ClinVar Variation Id: 301475
• ClinVar RCV Id: RCV000324174
• dbSNP Id: rs567800059
• gnomAD v2: 10-89727174-G-A
• gnomAD v3: 10-87967417-G-A
• gnomAD v4: 10-87967417-G-A
• MyVariant Identifiers: chr10:g.89727174G>A (hg19) ; chr10:g.87967417G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87967417G>A , CM000672.2:g.87967417G>A	GRCh38
NC_000010.10:g.89727174G>A , CM000672.1:g.89727174G>A	GRCh37
NC_000010.9:g.89717154G>A	NCBI36
NG_007466.2:g.108979G>A , LRG_311:g.108979G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710265.1:c.*2186G>A	ENSP00000518161.1:n.*2186G>A
ENST00000688158.2:n.3892G>A
ENST00000706954.1:c.*1945G>A	ENSP00000516674.1:n.*1945G>A
ENST00000706955.1:c.*3192G>A	ENSP00000516675.1:n.*3192G>A
ENST00000688158.1:c.*3268G>A	ENSP00000509254.1:n.*3268G>A
ENST00000693560.1:c.*1945G>A	ENSP00000509861.1:n.*1945G>A
ENST00000371953.8:c.*1945G>A MANE Select	ENSP00000361021.3:n.*1945G>A
ENST00000371953.7:c.*1945G>A	ENSP00000361021.3:n.*1945G>A
NM_000314.5:c.*1945G>A	NP_000305.3:n.*1945G>A
NM_000314.6:c.*1945G>A	NP_000305.3:n.*1945G>A
NM_001304717.2:c.*1945G>A	NP_001291646.2:n.*1945G>A
NM_001304718.1:c.*1945G>A	NP_001291647.1:n.*1945G>A
XM_006717926.2:c.*1945G>A	XP_006717989.1:n.*1945G>A
XM_011539982.1:c.*1945G>A	XP_011538284.1:n.*1945G>A
XR_945791.1:n.3727G>A
NM_000314.7:c.*1945G>A	NP_000305.3:n.*1945G>A
NM_001304717.5:c.*1945G>A	NP_001291646.4:n.*1945G>A
NM_001304718.2:c.*1945G>A	NP_001291647.1:n.*1945G>A
NM_000314.8:c.*1945G>A MANE Select	NP_000305.3:n.*1945G>A