Canonical Allele Identifier: CA2610046410
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

gnomAD v4: 10-87863616-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863616C>A , CM000672.2:g.87863616C>A GRCh38
NC_000010.10:g.89623373C>A , CM000672.1:g.89623373C>A GRCh37
NC_000010.9:g.89613353C>A NCBI36
NG_007466.2:g.5179C>A , LRG_311:g.5179C>A
NG_033079.1:g.4822G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-838C>A (PTEN) ENSP00000516674.1:n.-16-838C>A
ENST00000688308.1:c.-17+503C>A (PTEN) ENSP00000508752.1:n.-17+503C>A
ENST00000692337.1:c.58C>A (MLDHR) ENSP00000509326.1:p.Leu20Met
ENST00000693560.1:c.-334C>A (PTEN) ENSP00000509861.1:n.-334C>A
ENST00000371953.7:c.-854C>A (PTEN) ENSP00000361021.3:n.-854C>A
ENST00000610634.1:c.-956C>A (PTEN) ENSP00000477517.1:n.-956C>A
NM_000314.5:c.-853C>A (PTEN) NP_000305.3:n.-853C>A
NM_000314.6:c.-853C>A (PTEN) NP_000305.3:n.-853C>A
NM_001304717.2:c.-334C>A (PTEN) NP_001291646.2:n.-334C>A
NM_001304718.1:c.-1558C>A (PTEN) NP_001291647.1:n.-1558C>A
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