Canonical Allele Identifier: CA595073322
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 488736
ClinVar RCV Id: RCV000579228
dbSNP Id: rs1204891831
gnomAD v2: 10-89623363-T-C
gnomAD v3: 10-87863606-T-C
gnomAD v4: 10-87863606-T-C
MyVariant Identifiers: chr10:g.89623363T>C (hg19) chr10:g.87863606T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863606T>C , CM000672.2:g.87863606T>C GRCh38
NC_000010.10:g.89623363T>C , CM000672.1:g.89623363T>C GRCh37
NC_000010.9:g.89613343T>C NCBI36
NG_007466.2:g.5169T>C , LRG_311:g.5169T>C
NG_033079.1:g.4832A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-848T>C (PTEN) ENSP00000516674.1:n.-16-848T>C
ENST00000688308.1:c.-17+493T>C (PTEN) ENSP00000508752.1:n.-17+493T>C
ENST00000692337.1:c.48T>C (MLDHR) ENSP00000509326.1:p.Ala16=
ENST00000693560.1:c.-344T>C (PTEN) ENSP00000509861.1:n.-344T>C
ENST00000371953.7:c.-864T>C (PTEN) ENSP00000361021.3:n.-864T>C
ENST00000610634.1:c.-966T>C (PTEN) ENSP00000477517.1:n.-966T>C
NM_000314.5:c.-863T>C (PTEN) NP_000305.3:n.-863T>C
NM_000314.6:c.-863T>C (PTEN) NP_000305.3:n.-863T>C
NM_001304717.2:c.-344T>C (PTEN) NP_001291646.2:n.-344T>C
NM_001304718.1:c.-1568T>C (PTEN) NP_001291647.1:n.-1568T>C
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