Canonical Allele Identifier: CA1926143162
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1339585
ClinVar RCV Id: RCV001824487
dbSNP Id: rs786204861
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863624A>G , CM000672.2:g.87863624A>G GRCh38
NC_000010.10:g.89623381A>G , CM000672.1:g.89623381A>G GRCh37
NC_000010.9:g.89613361A>G NCBI36
NG_007466.2:g.5187A>G , LRG_311:g.5187A>G
NG_033079.1:g.4814T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-830A>G (PTEN) ENSP00000516674.1:n.-16-830A>G
ENST00000688308.1:c.-17+511A>G (PTEN) ENSP00000508752.1:n.-17+511A>G
ENST00000692337.1:c.66A>G (MLDHR) ENSP00000509326.1:p.Ser22=
ENST00000693560.1:c.-326A>G (PTEN) ENSP00000509861.1:n.-326A>G
ENST00000371953.7:c.-846A>G (PTEN) ENSP00000361021.3:n.-846A>G
ENST00000610634.1:c.-948A>G (PTEN) ENSP00000477517.1:n.-948A>G
NM_000314.5:c.-845A>G (PTEN) NP_000305.3:n.-845A>G
NM_000314.6:c.-845A>G (PTEN) NP_000305.3:n.-845A>G
NM_001304717.2:c.-326A>G (PTEN) NP_001291646.2:n.-326A>G
NM_001304718.1:c.-1550A>G (PTEN) NP_001291647.1:n.-1550A>G
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