Allele Registry

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ClinGen Allele Registry

Canonical Allele Identifier: CA658683634

Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 495810

ClinVar RCV Id: RCV000586330

dbSNP Id: rs587779996

gnomAD v4: 10-87863613-C-T

MyVariant Identifiers: chr10:g.89623370C>T (hg19) chr10:g.87863613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863613C>T , CM000672.2:g.87863613C>T	GRCh38
NC_000010.10:g.89623370C>T , CM000672.1:g.89623370C>T	GRCh37
NC_000010.9:g.89613350C>T	NCBI36
NG_007466.2:g.5176C>T , LRG_311:g.5176C>T
NG_033079.1:g.4825G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706954.1:c.-16-841C>T (PTEN)	ENSP00000516674.1:n.-16-841C>T
ENST00000688308.1:c.-17+500C>T (PTEN)	ENSP00000508752.1:n.-17+500C>T
ENST00000692337.1:c.55C>T (MLDHR)	ENSP00000509326.1:p.Arg19Ter
ENST00000693560.1:c.-337C>T (PTEN)	ENSP00000509861.1:n.-337C>T
ENST00000371953.7:c.-857C>T (PTEN)	ENSP00000361021.3:n.-857C>T
ENST00000610634.1:c.-959C>T (PTEN)	ENSP00000477517.1:n.-959C>T
NM_000314.5:c.-856C>T (PTEN)	NP_000305.3:n.-856C>T
NM_000314.6:c.-856C>T (PTEN)	NP_000305.3:n.-856C>T
NM_001304717.2:c.-337C>T (PTEN)	NP_001291646.2:n.-337C>T
NM_001304718.1:c.-1561C>T (PTEN)	NP_001291647.1:n.-1561C>T