Allele Registry

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ClinGen Allele Registry

Canonical Allele Identifier: CA10577400

Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 234457

ClinVar RCV Id: RCV000219185

dbSNP Id: rs876661029

gnomAD v3: 10-87863610-A-C

gnomAD v4: 10-87863610-A-C

MyVariant Identifiers: chr10:g.89623367A>C (hg19) chr10:g.87863610A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863610A>C , CM000672.2:g.87863610A>C	GRCh38
NC_000010.10:g.89623367A>C , CM000672.1:g.89623367A>C	GRCh37
NC_000010.9:g.89613347A>C	NCBI36
NG_007466.2:g.5173A>C , LRG_311:g.5173A>C
NG_033079.1:g.4828T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-16-844A>C (PTEN)	ENSP00000516674.1:n.-16-844A>C
ENST00000688308.1:c.-17+497A>C (PTEN)	ENSP00000508752.1:n.-17+497A>C
ENST00000692337.1:c.52A>C (MLDHR)	ENSP00000509326.1:p.Thr18Pro
ENST00000693560.1:c.-340A>C (PTEN)	ENSP00000509861.1:n.-340A>C
ENST00000371953.7:c.-860A>C (PTEN)	ENSP00000361021.3:n.-860A>C
ENST00000610634.1:c.-962A>C (PTEN)	ENSP00000477517.1:n.-962A>C
NM_000314.5:c.-859A>C (PTEN)	NP_000305.3:n.-859A>C
NM_000314.6:c.-859A>C (PTEN)	NP_000305.3:n.-859A>C
NM_001304717.2:c.-340A>C (PTEN)	NP_001291646.2:n.-340A>C
NM_001304718.1:c.-1564A>C (PTEN)	NP_001291647.1:n.-1564A>C