Canonical Allele Identifier: CA000625
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 189493
ClinVar RCV Id: RCV000169883
dbSNP Id: rs786204938
gnomAD v3: 10-87863577-T-C
gnomAD v4: 10-87863577-T-C
MyVariant Identifiers: chr10:g.89623334T>C (hg19) chr10:g.87863577T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863577T>C , CM000672.2:g.87863577T>C GRCh38
NC_000010.10:g.89623334T>C , CM000672.1:g.89623334T>C GRCh37
NC_000010.9:g.89613314T>C NCBI36
NG_007466.2:g.5140T>C , LRG_311:g.5140T>C
NG_033079.1:g.4861A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-877T>C (PTEN) ENSP00000516674.1:n.-16-877T>C
ENST00000688308.1:c.-17+464T>C (PTEN) ENSP00000508752.1:n.-17+464T>C
ENST00000692337.1:c.19T>C (MLDHR) ENSP00000509326.1:p.Cys7Arg
ENST00000693560.1:c.-373T>C (PTEN) ENSP00000509861.1:n.-373T>C
ENST00000371953.7:c.-893T>C (PTEN) ENSP00000361021.3:n.-893T>C
ENST00000610634.1:c.-995T>C (PTEN) ENSP00000477517.1:n.-995T>C
NM_000314.5:c.-892T>C (PTEN) NP_000305.3:n.-892T>C
NM_000314.6:c.-892T>C (PTEN) NP_000305.3:n.-892T>C
NM_001304717.2:c.-373T>C (PTEN) NP_001291646.2:n.-373T>C
NM_001304718.1:c.-1597T>C (PTEN) NP_001291647.1:n.-1597T>C
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