Canonical Allele Identifier: CA000611
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.87863608G>C
GRCh37 chr10:g.89623365G>C
gnomAD v4:
chr10-87863608-G-C
Joint Max Group AF 0.00000151 (NFE)
Exomes Max Group AF 0.00000218 (NFE)
ClinVar RCV:
RCV000169886
ClinVar Variation:
189496
dbSNP:
587776675
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863608G>C , CM000672.2:g.87863608G>C GRCh38
NC_000010.10:g.89623365G>C , CM000672.1:g.89623365G>C GRCh37
NC_000010.9:g.89613345G>C NCBI36
NG_007466.2:g.5171G>C , LRG_311:g.5171G>C
NG_033079.1:g.4830C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-846G>C (PTEN) ENSP00000516674.1:n.-16-846G>C
ENST00000688308.1:c.-17+495G>C (PTEN) ENSP00000508752.1:n.-17+495G>C
ENST00000692337.1:c.50G>C (MLDHR) ENSP00000509326.1:p.Gly17Ala
ENST00000693560.1:c.-342G>C (PTEN) ENSP00000509861.1:n.-342G>C
ENST00000371953.7:c.-862G>C (PTEN) ENSP00000361021.3:n.-862G>C
ENST00000610634.1:c.-964G>C (PTEN) ENSP00000477517.1:n.-964G>C
NM_000314.5:c.-861G>C (PTEN) NP_000305.3:n.-861G>C
NM_000314.6:c.-861G>C (PTEN) NP_000305.3:n.-861G>C
NM_001304717.2:c.-342G>C (PTEN) NP_001291646.2:n.-342G>C
NM_001304718.1:c.-1566G>C (PTEN) NP_001291647.1:n.-1566G>C
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