Canonical Allele Identifier: CA000631
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 127681
ClinVar RCV Id: RCV000115576 RCV000258978 RCV000589607 RCV000758225
dbSNP Id: rs550385924
gnomAD v2: 10-89623317-T-C
gnomAD v3: 10-87863560-T-C
gnomAD v4: 10-87863560-T-C
MyVariant Identifiers: chr10:g.89623317T>C (hg19) chr10:g.87863560T>C (hg38)
ERepo: CA000631/MONDO:0017623/003
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863560T>C , CM000672.2:g.87863560T>C GRCh38
NC_000010.10:g.89623317T>C , CM000672.1:g.89623317T>C GRCh37
NC_000010.9:g.89613297T>C NCBI36
NG_007466.2:g.5123T>C , LRG_311:g.5123T>C
NG_033079.1:g.4878A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-16-894T>C (PTEN) ENSP00000516674.1:n.-16-894T>C
ENST00000688308.1:c.-17+447T>C (PTEN) ENSP00000508752.1:n.-17+447T>C
ENST00000692337.1:c.2T>C (MLDHR) ENSP00000509326.1:p.Met1Thr
ENST00000693560.1:c.-390T>C (PTEN) ENSP00000509861.1:n.-390T>C
ENST00000371953.7:c.-910T>C (PTEN) ENSP00000361021.3:n.-910T>C
ENST00000610634.1:c.-1012T>C (PTEN) ENSP00000477517.1:n.-1012T>C
NM_000314.5:c.-909T>C (PTEN) NP_000305.3:n.-909T>C
NM_000314.6:c.-909T>C (PTEN) NP_000305.3:n.-909T>C
NM_001304717.2:c.-390T>C (PTEN) NP_001291646.2:n.-390T>C
NM_001304718.1:c.-1614T>C (PTEN) NP_001291647.1:n.-1614T>C
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