Canonical Allele Identifier: CA2499220444
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1200083
ClinVar RCV Id: RCV001564985
dbSNP Id: rs2132141035
gnomAD v4: 10-87863654-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863654A>G , CM000672.2:g.87863654A>G GRCh38
NC_000010.10:g.89623411A>G , CM000672.1:g.89623411A>G GRCh37
NC_000010.9:g.89613391A>G NCBI36
NG_007466.2:g.5217A>G , LRG_311:g.5217A>G
NG_033079.1:g.4784T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-816A>G (PTEN) ENSP00000514759.2:n.-816A>G
ENST00000710265.1:c.-816A>G (PTEN) ENSP00000518161.1:n.-816A>G
ENST00000706954.1:c.-16-800A>G (PTEN) ENSP00000516674.1:n.-16-800A>G
ENST00000706955.1:c.-816A>G (PTEN) ENSP00000516675.1:n.-816A>G
ENST00000688158.1:c.-816A>G (PTEN) ENSP00000509254.1:n.-816A>G
ENST00000688308.1:c.-17+541A>G (PTEN) ENSP00000508752.1:n.-17+541A>G
ENST00000692337.1:c.96A>G (MLDHR) ENSP00000509326.1:p.Ter32Trp
ENST00000693560.1:c.-296A>G (PTEN) ENSP00000509861.1:n.-296A>G
ENST00000371953.8:c.-816A>G (PTEN) MANE Select ENSP00000361021.3:n.-816A>G
ENST00000371953.7:c.-816A>G (PTEN) ENSP00000361021.3:n.-816A>G
ENST00000610634.1:c.-918A>G (PTEN) ENSP00000477517.1:n.-918A>G
NM_000314.5:c.-815A>G (PTEN) NP_000305.3:n.-815A>G
NM_000314.6:c.-815A>G (PTEN) NP_000305.3:n.-815A>G
NM_001304717.2:c.-296A>G (PTEN) NP_001291646.2:n.-296A>G
NM_001304718.1:c.-1520A>G (PTEN) NP_001291647.1:n.-1520A>G
NM_000314.7:c.-815A>G (PTEN) NP_000305.3:n.-815A>G
NM_001304717.5:c.-296A>G (PTEN) NP_001291646.4:n.-296A>G
NM_001304718.2:c.-1520A>G (PTEN) NP_001291647.1:n.-1520A>G
NM_000314.8:c.-816A>G (PTEN) MANE Select NP_000305.3:n.-816A>G
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