Canonical Allele Identifier: CA669540737
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1188174
ClinVar RCV Id: RCV001547876
dbSNP Id: rs1218184042
gnomAD v3: 10-87863609-G-A
gnomAD v4: 10-87863609-G-A
MyVariant Identifiers: chr10:g.89623366G>A (hg19) chr10:g.87863609G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863609G>A , CM000672.2:g.87863609G>A GRCh38
NC_000010.10:g.89623366G>A , CM000672.1:g.89623366G>A GRCh37
NC_000010.9:g.89613346G>A NCBI36
NG_007466.2:g.5172G>A , LRG_311:g.5172G>A
NG_033079.1:g.4829C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-845G>A (PTEN) ENSP00000516674.1:n.-16-845G>A
ENST00000688308.1:c.-17+496G>A (PTEN) ENSP00000508752.1:n.-17+496G>A
ENST00000692337.1:c.51G>A (MLDHR) ENSP00000509326.1:p.Gly17=
ENST00000693560.1:c.-341G>A (PTEN) ENSP00000509861.1:n.-341G>A
ENST00000371953.7:c.-861G>A (PTEN) ENSP00000361021.3:n.-861G>A
ENST00000610634.1:c.-963G>A (PTEN) ENSP00000477517.1:n.-963G>A
NM_000314.5:c.-860G>A (PTEN) NP_000305.3:n.-860G>A
NM_000314.6:c.-860G>A (PTEN) NP_000305.3:n.-860G>A
NM_001304717.2:c.-341G>A (PTEN) NP_001291646.2:n.-341G>A
NM_001304718.1:c.-1565G>A (PTEN) NP_001291647.1:n.-1565G>A
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