Canonical Allele Identifier: CA1926143138
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1675239
ClinVar RCV Id: RCV002210968
dbSNP Id: rs1858339251
gnomAD v4: 10-87863604-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863604G>T , CM000672.2:g.87863604G>T GRCh38
NC_000010.10:g.89623361G>T , CM000672.1:g.89623361G>T GRCh37
NC_000010.9:g.89613341G>T NCBI36
NG_007466.2:g.5167G>T , LRG_311:g.5167G>T
NG_033079.1:g.4834C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-850G>T (PTEN) ENSP00000516674.1:n.-16-850G>T
ENST00000688308.1:c.-17+491G>T (PTEN) ENSP00000508752.1:n.-17+491G>T
ENST00000692337.1:c.46G>T (MLDHR) ENSP00000509326.1:p.Ala16Ser
ENST00000693560.1:c.-346G>T (PTEN) ENSP00000509861.1:n.-346G>T
ENST00000371953.7:c.-866G>T (PTEN) ENSP00000361021.3:n.-866G>T
ENST00000610634.1:c.-968G>T (PTEN) ENSP00000477517.1:n.-968G>T
NM_000314.5:c.-865G>T (PTEN) NP_000305.3:n.-865G>T
NM_000314.6:c.-865G>T (PTEN) NP_000305.3:n.-865G>T
NM_001304717.2:c.-346G>T (PTEN) NP_001291646.2:n.-346G>T
NM_001304718.1:c.-1570G>T (PTEN) NP_001291647.1:n.-1570G>T
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