Canonical Allele Identifier: CA2573053364
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1327799
ClinVar RCV Id: RCV001794741
dbSNP Id: rs1402130017
gnomAD v3: 10-87863568-G-C
gnomAD v4: 10-87863568-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863568G>C , CM000672.2:g.87863568G>C GRCh38
NC_000010.10:g.89623325G>C , CM000672.1:g.89623325G>C GRCh37
NC_000010.9:g.89613305G>C NCBI36
NG_007466.2:g.5131G>C , LRG_311:g.5131G>C
NG_033079.1:g.4870C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-886G>C (PTEN) ENSP00000516674.1:n.-16-886G>C
ENST00000688308.1:c.-17+455G>C (PTEN) ENSP00000508752.1:n.-17+455G>C
ENST00000692337.1:c.10G>C (MLDHR) ENSP00000509326.1:p.Asp4His
ENST00000693560.1:c.-382G>C (PTEN) ENSP00000509861.1:n.-382G>C
ENST00000371953.7:c.-902G>C (PTEN) ENSP00000361021.3:n.-902G>C
ENST00000610634.1:c.-1004G>C (PTEN) ENSP00000477517.1:n.-1004G>C
NM_000314.5:c.-901G>C (PTEN) NP_000305.3:n.-901G>C
NM_000314.6:c.-901G>C (PTEN) NP_000305.3:n.-901G>C
NM_001304717.2:c.-382G>C (PTEN) NP_001291646.2:n.-382G>C
NM_001304718.1:c.-1606G>C (PTEN) NP_001291647.1:n.-1606G>C
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