Canonical Allele Identifier: CA000617
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 189494
ClinVar RCV Id: RCV000169884
dbSNP Id: rs786204939
gnomAD v2: 10-89623357-C-T
gnomAD v3: 10-87863600-C-T
gnomAD v4: 10-87863600-C-T
MyVariant Identifiers: chr10:g.89623357C>T (hg19) chr10:g.87863600C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863600C>T , CM000672.2:g.87863600C>T GRCh38
NC_000010.10:g.89623357C>T , CM000672.1:g.89623357C>T GRCh37
NC_000010.9:g.89613337C>T NCBI36
NG_007466.2:g.5163C>T , LRG_311:g.5163C>T
NG_033079.1:g.4838G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-854C>T (PTEN) ENSP00000516674.1:n.-16-854C>T
ENST00000688308.1:c.-17+487C>T (PTEN) ENSP00000508752.1:n.-17+487C>T
ENST00000692337.1:c.42C>T (MLDHR) ENSP00000509326.1:p.Leu14=
ENST00000693560.1:c.-350C>T (PTEN) ENSP00000509861.1:n.-350C>T
ENST00000371953.7:c.-870C>T (PTEN) ENSP00000361021.3:n.-870C>T
ENST00000610634.1:c.-972C>T (PTEN) ENSP00000477517.1:n.-972C>T
NM_000314.5:c.-869C>T (PTEN) NP_000305.3:n.-869C>T
NM_000314.6:c.-869C>T (PTEN) NP_000305.3:n.-869C>T
NM_001304717.2:c.-350C>T (PTEN) NP_001291646.2:n.-350C>T
NM_001304718.1:c.-1574C>T (PTEN) NP_001291647.1:n.-1574C>T
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