Canonical Allele Identifier: CA1926143115
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1047923
ClinVar RCV Id: RCV001352683
dbSNP Id: rs587781981
gnomAD v4: 10-87863572-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863572C>T , CM000672.2:g.87863572C>T GRCh38
NC_000010.10:g.89623329C>T , CM000672.1:g.89623329C>T GRCh37
NC_000010.9:g.89613309C>T NCBI36
NG_007466.2:g.5135C>T , LRG_311:g.5135C>T
NG_033079.1:g.4866G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-882C>T (PTEN) ENSP00000516674.1:n.-16-882C>T
ENST00000688308.1:c.-17+459C>T (PTEN) ENSP00000508752.1:n.-17+459C>T
ENST00000692337.1:c.14C>T (MLDHR) ENSP00000509326.1:p.Ser5Phe
ENST00000693560.1:c.-378C>T (PTEN) ENSP00000509861.1:n.-378C>T
ENST00000371953.7:c.-898C>T (PTEN) ENSP00000361021.3:n.-898C>T
ENST00000610634.1:c.-1000C>T (PTEN) ENSP00000477517.1:n.-1000C>T
NM_000314.5:c.-897C>T (PTEN) NP_000305.3:n.-897C>T
NM_000314.6:c.-897C>T (PTEN) NP_000305.3:n.-897C>T
NM_001304717.2:c.-378C>T (PTEN) NP_001291646.2:n.-378C>T
NM_001304718.1:c.-1602C>T (PTEN) NP_001291647.1:n.-1602C>T
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