Canonical Allele Identifier: CA2580082211
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1878241
ClinVar RCV Id: RCV002510294
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863588A>C , CM000672.2:g.87863588A>C GRCh38
NC_000010.10:g.89623345A>C , CM000672.1:g.89623345A>C GRCh37
NC_000010.9:g.89613325A>C NCBI36
NG_007466.2:g.5151A>C , LRG_311:g.5151A>C
NG_033079.1:g.4850T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-866A>C (PTEN) ENSP00000516674.1:n.-16-866A>C
ENST00000688308.1:c.-17+475A>C (PTEN) ENSP00000508752.1:n.-17+475A>C
ENST00000692337.1:c.30A>C (MLDHR) ENSP00000509326.1:p.Ala10=
ENST00000693560.1:c.-362A>C (PTEN) ENSP00000509861.1:n.-362A>C
ENST00000371953.7:c.-882A>C (PTEN) ENSP00000361021.3:n.-882A>C
ENST00000610634.1:c.-984A>C (PTEN) ENSP00000477517.1:n.-984A>C
NM_000314.5:c.-881A>C (PTEN) NP_000305.3:n.-881A>C
NM_000314.6:c.-881A>C (PTEN) NP_000305.3:n.-881A>C
NM_001304717.2:c.-362A>C (PTEN) NP_001291646.2:n.-362A>C
NM_001304718.1:c.-1586A>C (PTEN) NP_001291647.1:n.-1586A>C
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