Canonical Allele Identifier: CA658683624

Gene: PTEN

Linked Data

• ClinVar Variation Id: 488759
• ClinVar RCV Id: RCV000578981
• dbSNP Id: rs1158800882
• gnomAD v4: 10-87863542-C-T
• MyVariant Identifiers: chr10:g.89623299C>T (hg19) ; chr10:g.87863542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863542C>T , CM000672.2:g.87863542C>T	GRCh38
NC_000010.10:g.89623299C>T , CM000672.1:g.89623299C>T	GRCh37
NC_000010.9:g.89613279C>T	NCBI36
NG_007466.2:g.5105C>T , LRG_311:g.5105C>T
NG_033079.1:g.4896G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-17+900C>T	ENSP00000516674.1:n.-17+900C>T
ENST00000688308.1:c.-17+429C>T	ENSP00000508752.1:n.-17+429C>T
ENST00000693560.1:c.-408C>T	ENSP00000509861.1:n.-408C>T
ENST00000371953.7:c.-928C>T	ENSP00000361021.3:n.-928C>T
ENST00000610634.1:c.-1030C>T	ENSP00000477517.1:n.-1030C>T
NM_000314.5:c.-927C>T	NP_000305.3:n.-927C>T
NM_000314.6:c.-927C>T	NP_000305.3:n.-927C>T
NM_001304717.2:c.-408C>T	NP_001291646.2:n.-408C>T
NM_001304718.1:c.-1632C>T	NP_001291647.1:n.-1632C>T