Canonical Allele Identifier: CA2499220443
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1190375
ClinVar RCV Id: RCV001551068
dbSNP Id: rs2132140633
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863570C>G , CM000672.2:g.87863570C>G GRCh38
NC_000010.10:g.89623327C>G , CM000672.1:g.89623327C>G GRCh37
NC_000010.9:g.89613307C>G NCBI36
NG_007466.2:g.5133C>G , LRG_311:g.5133C>G
NG_033079.1:g.4868G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-884C>G (PTEN) ENSP00000516674.1:n.-16-884C>G
ENST00000688308.1:c.-17+457C>G (PTEN) ENSP00000508752.1:n.-17+457C>G
ENST00000692337.1:c.12C>G (MLDHR) ENSP00000509326.1:p.Asp4Glu
ENST00000693560.1:c.-380C>G (PTEN) ENSP00000509861.1:n.-380C>G
ENST00000371953.7:c.-900C>G (PTEN) ENSP00000361021.3:n.-900C>G
ENST00000610634.1:c.-1002C>G (PTEN) ENSP00000477517.1:n.-1002C>G
NM_000314.5:c.-899C>G (PTEN) NP_000305.3:n.-899C>G
NM_000314.6:c.-899C>G (PTEN) NP_000305.3:n.-899C>G
NM_001304717.2:c.-380C>G (PTEN) NP_001291646.2:n.-380C>G
NM_001304718.1:c.-1604C>G (PTEN) NP_001291647.1:n.-1604C>G
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