Canonical Allele Identifier: CA338139122
Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 468914
ClinVar RCV Id: RCV000525735
dbSNP Id: rs1302453044

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474478A>G , CM000663.2:g.6474478A>G GRCh38
NC_000001.10:g.6534538A>G , CM000663.1:g.6534538A>G GRCh37
NC_000001.9:g.6457125A>G NCBI36
NG_007978.1:g.50532T>C , LRG_262:g.50532T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340850.10:c.412T>C ENSP00000344570.5:p.Phe138Leu
ENST00000377728.8:c.412T>C MANE Select ENSP00000366957.3:p.Phe138Leu
ENST00000377740.5:c.412T>C ENSP00000366969.4:p.Phe138Leu
ENST00000377748.6:c.586T>C ENSP00000366977.2:p.Phe196Leu
ENST00000400913.6:c.412T>C ENSP00000383704.1:p.Phe138Leu
ENST00000400915.8:c.523T>C ENSP00000383706.4:p.Phe175Leu
ENST00000489097.6:n.888T>C
ENST00000535355.6:c.619T>C ENSP00000441445.1:p.Phe207Leu
ENST00000537245.6:c.523T>C ENSP00000439625.2:p.Phe175Leu
ENST00000673471.2:c.709T>C ENSP00000500749.1:p.Phe237Leu
ENST00000674790.1:c.*624T>C ENSP00000502815.1:n.*624T>C
ENST00000675123.1:c.412T>C ENSP00000502132.1:p.Phe138Leu
ENST00000675548.1:c.*240T>C ENSP00000502684.1:n.*240T>C
ENST00000675694.1:c.412T>C ENSP00000501925.1:p.Phe138Leu
ENST00000676255.1:c.374T>C ENSP00000502459.1:n.374T>C
ENST00000340850.9:c.412T>C ENSP00000344570.5:p.Phe138Leu
ENST00000377725.5:c.412T>C ENSP00000366954.1:p.Phe138Leu
ENST00000377728.7:c.412T>C ENSP00000366957.3:p.Phe138Leu
ENST00000377732.5:c.523T>C ENSP00000366961.1:p.Phe175Leu
ENST00000377740.4:c.643T>C ENSP00000366969.3:p.Phe215Leu
ENST00000377748.5:c.643T>C ENSP00000366977.1:p.Phe215Leu
ENST00000400913.5:c.412T>C ENSP00000383704.1:p.Phe138Leu
ENST00000400915.7:c.580T>C ENSP00000383706.3:p.Phe194Leu
ENST00000489097.5:n.888T>C
ENST00000535355.5:c.619T>C ENSP00000441445.1:p.Phe207Leu
ENST00000537245.5:c.649T>C ENSP00000439625.1:p.Phe217Leu
NM_001042663.1:c.580T>C NP_001036128.1:p.Phe194Leu
NM_001042664.1:c.412T>C NP_001036129.1:p.Phe138Leu
NM_001042665.1:c.412T>C NP_001036130.1:p.Phe138Leu
NM_001265592.1:c.649T>C NP_001252521.1:p.Phe217Leu
NM_001265593.1:c.619T>C NP_001252522.1:p.Phe207Leu
NM_001265594.1:c.412T>C NP_001252523.1:p.Phe138Leu
NM_020631.4:c.412T>C NP_065682.2:p.Phe138Leu
NM_198681.3:c.643T>C NP_941374.2:p.Phe215Leu
NM_001042663.2:c.580T>C NP_001036128.1:p.Phe194Leu
NM_001265594.2:c.412T>C NP_001252523.1:p.Phe138Leu
NM_020631.5:c.412T>C NP_065682.2:p.Phe138Leu
NM_001042663.3:c.523T>C NP_001036128.2:p.Phe175Leu
NM_001265592.2:c.523T>C NP_001252521.2:p.Phe175Leu
NM_020631.6:c.412T>C MANE Select NP_065682.2:p.Phe138Leu
NM_198681.4:c.412T>C NP_941374.3:p.Phe138Leu