Canonical Allele Identifier: CA658683638
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 488777
ClinVar RCV Id: RCV000578812
dbSNP Id: rs587781920
gnomAD v3: 10-87863630-C-T
gnomAD v4: 10-87863630-C-T
MyVariant Identifiers: chr10:g.89623387C>T (hg19) chr10:g.87863630C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863630C>T , CM000672.2:g.87863630C>T GRCh38
NC_000010.10:g.89623387C>T , CM000672.1:g.89623387C>T GRCh37
NC_000010.9:g.89613367C>T NCBI36
NG_007466.2:g.5193C>T , LRG_311:g.5193C>T
NG_033079.1:g.4808G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-840C>T (PTEN) ENSP00000514759.2:n.-840C>T
ENST00000710265.1:c.-840C>T (PTEN) ENSP00000518161.1:n.-840C>T
ENST00000706954.1:c.-16-824C>T (PTEN) ENSP00000516674.1:n.-16-824C>T
ENST00000706955.1:c.-840C>T (PTEN) ENSP00000516675.1:n.-840C>T
ENST00000688158.1:c.-840C>T (PTEN) ENSP00000509254.1:n.-840C>T
ENST00000688308.1:c.-17+517C>T (PTEN) ENSP00000508752.1:n.-17+517C>T
ENST00000692337.1:c.72C>T (MLDHR) ENSP00000509326.1:p.Leu24=
ENST00000693560.1:c.-320C>T (PTEN) ENSP00000509861.1:n.-320C>T
ENST00000371953.8:c.-840C>T (PTEN) MANE Select ENSP00000361021.3:n.-840C>T
ENST00000371953.7:c.-840C>T (PTEN) ENSP00000361021.3:n.-840C>T
ENST00000610634.1:c.-942C>T (PTEN) ENSP00000477517.1:n.-942C>T
NM_000314.5:c.-839C>T (PTEN) NP_000305.3:n.-839C>T
NM_000314.6:c.-839C>T (PTEN) NP_000305.3:n.-839C>T
NM_001304717.2:c.-320C>T (PTEN) NP_001291646.2:n.-320C>T
NM_001304718.1:c.-1544C>T (PTEN) NP_001291647.1:n.-1544C>T
NM_000314.7:c.-839C>T (PTEN) NP_000305.3:n.-839C>T
NM_001304717.5:c.-320C>T (PTEN) NP_001291646.4:n.-320C>T
NM_001304718.2:c.-1544C>T (PTEN) NP_001291647.1:n.-1544C>T
NM_000314.8:c.-840C>T (PTEN) MANE Select NP_000305.3:n.-840C>T
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