Canonical Allele Identifier: CA10577402
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 234486
ClinVar RCV Id: RCV000218385 RCV003387814
dbSNP Id: rs559145151
gnomAD v3: 10-87863619-C-T
gnomAD v4: 10-87863619-C-T
MyVariant Identifiers: chr10:g.89623376C>T (hg19) chr10:g.87863619C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863619C>T , CM000672.2:g.87863619C>T GRCh38
NC_000010.10:g.89623376C>T , CM000672.1:g.89623376C>T GRCh37
NC_000010.9:g.89613356C>T NCBI36
NG_007466.2:g.5182C>T , LRG_311:g.5182C>T
NG_033079.1:g.4819G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-835C>T (PTEN) ENSP00000516674.1:n.-16-835C>T
ENST00000688308.1:c.-17+506C>T (PTEN) ENSP00000508752.1:n.-17+506C>T
ENST00000692337.1:c.61C>T (MLDHR) ENSP00000509326.1:p.Arg21Cys
ENST00000693560.1:c.-331C>T (PTEN) ENSP00000509861.1:n.-331C>T
ENST00000371953.7:c.-851C>T (PTEN) ENSP00000361021.3:n.-851C>T
ENST00000610634.1:c.-953C>T (PTEN) ENSP00000477517.1:n.-953C>T
NM_000314.5:c.-850C>T (PTEN) NP_000305.3:n.-850C>T
NM_000314.6:c.-850C>T (PTEN) NP_000305.3:n.-850C>T
NM_001304717.2:c.-331C>T (PTEN) NP_001291646.2:n.-331C>T
NM_001304718.1:c.-1555C>T (PTEN) NP_001291647.1:n.-1555C>T
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