Canonical Allele Identifier: CA930912759
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

dbSNP Id: rs1858338247
gnomAD v3: 10-87863578-G-A
gnomAD v4: 10-87863578-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863578G>A , CM000672.2:g.87863578G>A GRCh38
NC_000010.10:g.89623335G>A , CM000672.1:g.89623335G>A GRCh37
NC_000010.9:g.89613315G>A NCBI36
NG_007466.2:g.5141G>A , LRG_311:g.5141G>A
NG_033079.1:g.4860C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-876G>A (PTEN) ENSP00000516674.1:n.-16-876G>A
ENST00000688308.1:c.-17+465G>A (PTEN) ENSP00000508752.1:n.-17+465G>A
ENST00000692337.1:c.20G>A (MLDHR) ENSP00000509326.1:p.Cys7Tyr
ENST00000693560.1:c.-372G>A (PTEN) ENSP00000509861.1:n.-372G>A
ENST00000371953.7:c.-892G>A (PTEN) ENSP00000361021.3:n.-892G>A
ENST00000610634.1:c.-994G>A (PTEN) ENSP00000477517.1:n.-994G>A
NM_000314.5:c.-891G>A (PTEN) NP_000305.3:n.-891G>A
NM_000314.6:c.-891G>A (PTEN) NP_000305.3:n.-891G>A
NM_001304717.2:c.-372G>A (PTEN) NP_001291646.2:n.-372G>A
NM_001304718.1:c.-1596G>A (PTEN) NP_001291647.1:n.-1596G>A
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