Canonical Allele Identifier: CA930912811
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

dbSNP Id: rs1433162901
gnomAD v3: 10-87863628-C-A
gnomAD v4: 10-87863628-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863628C>A , CM000672.2:g.87863628C>A GRCh38
NC_000010.10:g.89623385C>A , CM000672.1:g.89623385C>A GRCh37
NC_000010.9:g.89613365C>A NCBI36
NG_007466.2:g.5191C>A , LRG_311:g.5191C>A
NG_033079.1:g.4810G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-842C>A (PTEN) ENSP00000514759.2:n.-842C>A
ENST00000710265.1:c.-842C>A (PTEN) ENSP00000518161.1:n.-842C>A
ENST00000706954.1:c.-16-826C>A (PTEN) ENSP00000516674.1:n.-16-826C>A
ENST00000706955.1:c.-842C>A (PTEN) ENSP00000516675.1:n.-842C>A
ENST00000688158.1:c.-842C>A (PTEN) ENSP00000509254.1:n.-842C>A
ENST00000688308.1:c.-17+515C>A (PTEN) ENSP00000508752.1:n.-17+515C>A
ENST00000692337.1:c.70C>A (MLDHR) ENSP00000509326.1:p.Leu24Ile
ENST00000693560.1:c.-322C>A (PTEN) ENSP00000509861.1:n.-322C>A
ENST00000371953.8:c.-842C>A (PTEN) MANE Select ENSP00000361021.3:n.-842C>A
ENST00000371953.7:c.-842C>A (PTEN) ENSP00000361021.3:n.-842C>A
ENST00000610634.1:c.-944C>A (PTEN) ENSP00000477517.1:n.-944C>A
NM_000314.5:c.-841C>A (PTEN) NP_000305.3:n.-841C>A
NM_000314.6:c.-841C>A (PTEN) NP_000305.3:n.-841C>A
NM_001304717.2:c.-322C>A (PTEN) NP_001291646.2:n.-322C>A
NM_001304718.1:c.-1546C>A (PTEN) NP_001291647.1:n.-1546C>A
NM_000314.7:c.-841C>A (PTEN) NP_000305.3:n.-841C>A
NM_001304717.5:c.-322C>A (PTEN) NP_001291646.4:n.-322C>A
NM_001304718.2:c.-1546C>A (PTEN) NP_001291647.1:n.-1546C>A
NM_000314.8:c.-842C>A (PTEN) MANE Select NP_000305.3:n.-842C>A
Search 100 bp 5'
Search 100 bp 3'