Canonical Allele Identifier: CA211452744
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 488769
ClinVar RCV Id: RCV000579213 RCV001251385 RCV002506389 RCV004556062
dbSNP Id: rs876661029
gnomAD v2: 10-89623367-A-G
gnomAD v3: 10-87863610-A-G
gnomAD v4: 10-87863610-A-G
MyVariant Identifiers: chr10:g.89623367A>G (hg19) chr10:g.87863610A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863610A>G , CM000672.2:g.87863610A>G GRCh38
NC_000010.10:g.89623367A>G , CM000672.1:g.89623367A>G GRCh37
NC_000010.9:g.89613347A>G NCBI36
NG_007466.2:g.5173A>G , LRG_311:g.5173A>G
NG_033079.1:g.4828T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-844A>G (PTEN) ENSP00000516674.1:n.-16-844A>G
ENST00000688308.1:c.-17+497A>G (PTEN) ENSP00000508752.1:n.-17+497A>G
ENST00000692337.1:c.52A>G (MLDHR) ENSP00000509326.1:p.Thr18Ala
ENST00000693560.1:c.-340A>G (PTEN) ENSP00000509861.1:n.-340A>G
ENST00000371953.7:c.-860A>G (PTEN) ENSP00000361021.3:n.-860A>G
ENST00000610634.1:c.-962A>G (PTEN) ENSP00000477517.1:n.-962A>G
NM_000314.5:c.-859A>G (PTEN) NP_000305.3:n.-859A>G
NM_000314.6:c.-859A>G (PTEN) NP_000305.3:n.-859A>G
NM_001304717.2:c.-340A>G (PTEN) NP_001291646.2:n.-340A>G
NM_001304718.1:c.-1564A>G (PTEN) NP_001291647.1:n.-1564A>G
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