Canonical Allele Identifier: CA1926143118
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

dbSNP Id: rs1334980820
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863576A>C , CM000672.2:g.87863576A>C GRCh38
NC_000010.10:g.89623333A>C , CM000672.1:g.89623333A>C GRCh37
NC_000010.9:g.89613313A>C NCBI36
NG_007466.2:g.5139A>C , LRG_311:g.5139A>C
NG_033079.1:g.4862T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-878A>C (PTEN) ENSP00000516674.1:n.-16-878A>C
ENST00000688308.1:c.-17+463A>C (PTEN) ENSP00000508752.1:n.-17+463A>C
ENST00000692337.1:c.18A>C (MLDHR) ENSP00000509326.1:p.Leu6Phe
ENST00000693560.1:c.-374A>C (PTEN) ENSP00000509861.1:n.-374A>C
ENST00000371953.7:c.-894A>C (PTEN) ENSP00000361021.3:n.-894A>C
ENST00000610634.1:c.-996A>C (PTEN) ENSP00000477517.1:n.-996A>C
NM_000314.5:c.-893A>C (PTEN) NP_000305.3:n.-893A>C
NM_000314.6:c.-893A>C (PTEN) NP_000305.3:n.-893A>C
NM_001304717.2:c.-374A>C (PTEN) NP_001291646.2:n.-374A>C
NM_001304718.1:c.-1598A>C (PTEN) NP_001291647.1:n.-1598A>C
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