Canonical Allele Identifier: CA595073185
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

dbSNP Id: rs587779997
gnomAD v2: 10-89623322-C-G
gnomAD v3: 10-87863565-C-G
gnomAD v4: 10-87863565-C-G
MyVariant Identifiers: chr10:g.89623322C>G (hg19) chr10:g.87863565C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-889C>G (PTEN) ENSP00000516674.1:n.-16-889C>G
ENST00000688308.1:c.-17+452C>G (PTEN) ENSP00000508752.1:n.-17+452C>G
ENST00000692337.1:c.7C>G (MLDHR) ENSP00000509326.1:p.Arg3Gly
ENST00000693560.1:c.-385C>G (PTEN) ENSP00000509861.1:n.-385C>G
ENST00000371953.7:c.-905C>G (PTEN) ENSP00000361021.3:n.-905C>G
ENST00000610634.1:c.-1007C>G (PTEN) ENSP00000477517.1:n.-1007C>G
NM_000314.5:c.-904C>G (PTEN) NP_000305.3:n.-904C>G
NM_000314.6:c.-904C>G (PTEN) NP_000305.3:n.-904C>G
NM_001304717.2:c.-385C>G (PTEN) NP_001291646.2:n.-385C>G
NM_001304718.1:c.-1609C>G (PTEN) NP_001291647.1:n.-1609C>G
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