Canonical Allele Identifier: CA669540614
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

dbSNP Id: rs587779997
gnomAD v4: 10-87863565-C-T
MyVariant Identifiers: chr10:g.89623322C>T (hg19) chr10:g.87863565C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863565C>T , CM000672.2:g.87863565C>T GRCh38
NC_000010.10:g.89623322C>T , CM000672.1:g.89623322C>T GRCh37
NC_000010.9:g.89613302C>T NCBI36
NG_007466.2:g.5128C>T , LRG_311:g.5128C>T
NG_033079.1:g.4873G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-889C>T (PTEN) ENSP00000516674.1:n.-16-889C>T
ENST00000688308.1:c.-17+452C>T (PTEN) ENSP00000508752.1:n.-17+452C>T
ENST00000692337.1:c.7C>T (MLDHR) ENSP00000509326.1:p.Arg3Trp
ENST00000693560.1:c.-385C>T (PTEN) ENSP00000509861.1:n.-385C>T
ENST00000371953.7:c.-905C>T (PTEN) ENSP00000361021.3:n.-905C>T
ENST00000610634.1:c.-1007C>T (PTEN) ENSP00000477517.1:n.-1007C>T
NM_000314.5:c.-904C>T (PTEN) NP_000305.3:n.-904C>T
NM_000314.6:c.-904C>T (PTEN) NP_000305.3:n.-904C>T
NM_001304717.2:c.-385C>T (PTEN) NP_001291646.2:n.-385C>T
NM_001304718.1:c.-1609C>T (PTEN) NP_001291647.1:n.-1609C>T
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