Canonical Allele Identifier: CA915947321
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 822613
ClinVar RCV Id: RCV001018104
dbSNP Id: rs587781706
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863607G>C , CM000672.2:g.87863607G>C GRCh38
NC_000010.10:g.89623364G>C , CM000672.1:g.89623364G>C GRCh37
NC_000010.9:g.89613344G>C NCBI36
NG_007466.2:g.5170G>C , LRG_311:g.5170G>C
NG_033079.1:g.4831C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-847G>C (PTEN) ENSP00000516674.1:n.-16-847G>C
ENST00000688308.1:c.-17+494G>C (PTEN) ENSP00000508752.1:n.-17+494G>C
ENST00000692337.1:c.49G>C (MLDHR) ENSP00000509326.1:p.Gly17Arg
ENST00000693560.1:c.-343G>C (PTEN) ENSP00000509861.1:n.-343G>C
ENST00000371953.7:c.-863G>C (PTEN) ENSP00000361021.3:n.-863G>C
ENST00000610634.1:c.-965G>C (PTEN) ENSP00000477517.1:n.-965G>C
NM_000314.5:c.-862G>C (PTEN) NP_000305.3:n.-862G>C
NM_000314.6:c.-862G>C (PTEN) NP_000305.3:n.-862G>C
NM_001304717.2:c.-343G>C (PTEN) NP_001291646.2:n.-343G>C
NM_001304718.1:c.-1567G>C (PTEN) NP_001291647.1:n.-1567G>C
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