Canonical Allele Identifier: CA595073325
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

dbSNP Id: rs978410497
gnomAD v2: 10-89623377-G-C
gnomAD v3: 10-87863620-G-C
gnomAD v4: 10-87863620-G-C
MyVariant Identifiers: chr10:g.89623377G>C (hg19) chr10:g.87863620G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-834G>C (PTEN) ENSP00000516674.1:n.-16-834G>C
ENST00000688308.1:c.-17+507G>C (PTEN) ENSP00000508752.1:n.-17+507G>C
ENST00000692337.1:c.62G>C (MLDHR) ENSP00000509326.1:p.Arg21Pro
ENST00000693560.1:c.-330G>C (PTEN) ENSP00000509861.1:n.-330G>C
ENST00000371953.7:c.-850G>C (PTEN) ENSP00000361021.3:n.-850G>C
ENST00000610634.1:c.-952G>C (PTEN) ENSP00000477517.1:n.-952G>C
NM_000314.5:c.-849G>C (PTEN) NP_000305.3:n.-849G>C
NM_000314.6:c.-849G>C (PTEN) NP_000305.3:n.-849G>C
NM_001304717.2:c.-330G>C (PTEN) NP_001291646.2:n.-330G>C
NM_001304718.1:c.-1554G>C (PTEN) NP_001291647.1:n.-1554G>C
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