Canonical Allele Identifier: CA10636816

Gene: PTEN

Linked Data

• ClinVar Variation Id: 301486
• ClinVar RCV Id: RCV000311277
• dbSNP Id: rs552431817
• gnomAD v3: 10-87967676-T-A
• gnomAD v4: 10-87967676-T-A
• MyVariant Identifiers: chr10:g.89727433T>A (hg19) ; chr10:g.87967676T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87967676T>A , CM000672.2:g.87967676T>A	GRCh38
NC_000010.10:g.89727433T>A , CM000672.1:g.89727433T>A	GRCh37
NC_000010.9:g.89717413T>A	NCBI36
NG_007466.2:g.109238T>A , LRG_311:g.109238T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710265.1:c.*2445T>A	ENSP00000518161.1:n.*2445T>A
ENST00000688158.2:n.4151T>A
ENST00000706954.1:c.*2204T>A	ENSP00000516674.1:n.*2204T>A
ENST00000706955.1:c.*3451T>A	ENSP00000516675.1:n.*3451T>A
ENST00000688158.1:c.*3527T>A	ENSP00000509254.1:n.*3527T>A
ENST00000693560.1:c.*2204T>A	ENSP00000509861.1:n.*2204T>A
ENST00000371953.8:c.*2204T>A MANE Select	ENSP00000361021.3:n.*2204T>A
ENST00000371953.7:c.*2204T>A	ENSP00000361021.3:n.*2204T>A
NM_000314.5:c.*2204T>A	NP_000305.3:n.*2204T>A
NM_000314.6:c.*2204T>A	NP_000305.3:n.*2204T>A
NM_001304717.2:c.*2204T>A	NP_001291646.2:n.*2204T>A
NM_001304718.1:c.*2204T>A	NP_001291647.1:n.*2204T>A
XM_006717926.2:c.*2204T>A	XP_006717989.1:n.*2204T>A
XM_011539982.1:c.*2204T>A	XP_011538284.1:n.*2204T>A
XR_945791.1:n.3986T>A
NM_000314.7:c.*2204T>A	NP_000305.3:n.*2204T>A
NM_001304717.5:c.*2204T>A	NP_001291646.4:n.*2204T>A
NM_001304718.2:c.*2204T>A	NP_001291647.1:n.*2204T>A
NM_000314.8:c.*2204T>A MANE Select	NP_000305.3:n.*2204T>A