Canonical Allele Identifier: CA1926143101
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

dbSNP Id: rs1589594115
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863559A>T , CM000672.2:g.87863559A>T GRCh38
NC_000010.10:g.89623316A>T , CM000672.1:g.89623316A>T GRCh37
NC_000010.9:g.89613296A>T NCBI36
NG_007466.2:g.5122A>T , LRG_311:g.5122A>T
NG_033079.1:g.4879T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-895A>T (PTEN) ENSP00000516674.1:n.-16-895A>T
ENST00000688308.1:c.-17+446A>T (PTEN) ENSP00000508752.1:n.-17+446A>T
ENST00000692337.1:c.1A>T (MLDHR) ENSP00000509326.1:p.Met1Leu
ENST00000693560.1:c.-391A>T (PTEN) ENSP00000509861.1:n.-391A>T
ENST00000371953.7:c.-911A>T (PTEN) ENSP00000361021.3:n.-911A>T
ENST00000610634.1:c.-1013A>T (PTEN) ENSP00000477517.1:n.-1013A>T
NM_000314.5:c.-910A>T (PTEN) NP_000305.3:n.-910A>T
NM_000314.6:c.-910A>T (PTEN) NP_000305.3:n.-910A>T
NM_001304717.2:c.-391A>T (PTEN) NP_001291646.2:n.-391A>T
NM_001304718.1:c.-1615A>T (PTEN) NP_001291647.1:n.-1615A>T
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