Canonical Allele Identifier: CA930912764
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

dbSNP Id: rs1589594195
gnomAD v3: 10-87863580-G-T
gnomAD v4: 10-87863580-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863580G>T , CM000672.2:g.87863580G>T GRCh38
NC_000010.10:g.89623337G>T , CM000672.1:g.89623337G>T GRCh37
NC_000010.9:g.89613317G>T NCBI36
NG_007466.2:g.5143G>T , LRG_311:g.5143G>T
NG_033079.1:g.4858C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-874G>T (PTEN) ENSP00000516674.1:n.-16-874G>T
ENST00000688308.1:c.-17+467G>T (PTEN) ENSP00000508752.1:n.-17+467G>T
ENST00000692337.1:c.22G>T (MLDHR) ENSP00000509326.1:p.Ala8Ser
ENST00000693560.1:c.-370G>T (PTEN) ENSP00000509861.1:n.-370G>T
ENST00000371953.7:c.-890G>T (PTEN) ENSP00000361021.3:n.-890G>T
ENST00000610634.1:c.-992G>T (PTEN) ENSP00000477517.1:n.-992G>T
NM_000314.5:c.-889G>T (PTEN) NP_000305.3:n.-889G>T
NM_000314.6:c.-889G>T (PTEN) NP_000305.3:n.-889G>T
NM_001304717.2:c.-370G>T (PTEN) NP_001291646.2:n.-370G>T
NM_001304718.1:c.-1594G>T (PTEN) NP_001291647.1:n.-1594G>T
Search 100 bp 5'
Search 100 bp 3'