Allele Registry

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ClinGen Allele Registry

Canonical Allele Identifier: CA211452785

Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 2579638

ClinVar RCV Id: RCV003328073

dbSNP Id: rs978410497

gnomAD v4: 10-87863620-G-A

MyVariant Identifiers: chr10:g.89623377G>A (hg19) chr10:g.87863620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863620G>A , CM000672.2:g.87863620G>A	GRCh38
NC_000010.10:g.89623377G>A , CM000672.1:g.89623377G>A	GRCh37
NC_000010.9:g.89613357G>A	NCBI36
NG_007466.2:g.5183G>A , LRG_311:g.5183G>A
NG_033079.1:g.4818C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-16-834G>A (PTEN)	ENSP00000516674.1:n.-16-834G>A
ENST00000688308.1:c.-17+507G>A (PTEN)	ENSP00000508752.1:n.-17+507G>A
ENST00000692337.1:c.62G>A (MLDHR)	ENSP00000509326.1:p.Arg21His
ENST00000693560.1:c.-330G>A (PTEN)	ENSP00000509861.1:n.-330G>A
ENST00000371953.7:c.-850G>A (PTEN)	ENSP00000361021.3:n.-850G>A
ENST00000610634.1:c.-952G>A (PTEN)	ENSP00000477517.1:n.-952G>A
NM_000314.5:c.-849G>A (PTEN)	NP_000305.3:n.-849G>A
NM_000314.6:c.-849G>A (PTEN)	NP_000305.3:n.-849G>A
NM_001304717.2:c.-330G>A (PTEN)	NP_001291646.2:n.-330G>A
NM_001304718.1:c.-1554G>A (PTEN)	NP_001291647.1:n.-1554G>A