Canonical Allele Identifier: CA669540847
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

dbSNP Id: rs931643553
gnomAD v4: 10-87863651-A-C
MyVariant Identifiers: chr10:g.89623408A>C (hg19) chr10:g.87863651A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863651A>C , CM000672.2:g.87863651A>C GRCh38
NC_000010.10:g.89623408A>C , CM000672.1:g.89623408A>C GRCh37
NC_000010.9:g.89613388A>C NCBI36
NG_007466.2:g.5214A>C , LRG_311:g.5214A>C
NG_033079.1:g.4787T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-819A>C (PTEN) ENSP00000514759.2:n.-819A>C
ENST00000710265.1:c.-819A>C (PTEN) ENSP00000518161.1:n.-819A>C
ENST00000706954.1:c.-16-803A>C (PTEN) ENSP00000516674.1:n.-16-803A>C
ENST00000706955.1:c.-819A>C (PTEN) ENSP00000516675.1:n.-819A>C
ENST00000688158.1:c.-819A>C (PTEN) ENSP00000509254.1:n.-819A>C
ENST00000688308.1:c.-17+538A>C (PTEN) ENSP00000508752.1:n.-17+538A>C
ENST00000692337.1:c.93A>C (MLDHR) ENSP00000509326.1:p.Pro31=
ENST00000693560.1:c.-299A>C (PTEN) ENSP00000509861.1:n.-299A>C
ENST00000371953.8:c.-819A>C (PTEN) MANE Select ENSP00000361021.3:n.-819A>C
ENST00000371953.7:c.-819A>C (PTEN) ENSP00000361021.3:n.-819A>C
ENST00000610634.1:c.-921A>C (PTEN) ENSP00000477517.1:n.-921A>C
NM_000314.5:c.-818A>C (PTEN) NP_000305.3:n.-818A>C
NM_000314.6:c.-818A>C (PTEN) NP_000305.3:n.-818A>C
NM_001304717.2:c.-299A>C (PTEN) NP_001291646.2:n.-299A>C
NM_001304718.1:c.-1523A>C (PTEN) NP_001291647.1:n.-1523A>C
NM_000314.7:c.-818A>C (PTEN) NP_000305.3:n.-818A>C
NM_001304717.5:c.-299A>C (PTEN) NP_001291646.4:n.-299A>C
NM_001304718.2:c.-1523A>C (PTEN) NP_001291647.1:n.-1523A>C
NM_000314.8:c.-819A>C (PTEN) MANE Select NP_000305.3:n.-819A>C
Search 100 bp 5'
Search 100 bp 3'