Canonical Allele Identifier: CA561882
Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 245660
dbSNP Id: rs141032388
gnomAD v2: 1-6534643-C-T
gnomAD v3: 1-6474583-C-T
gnomAD v4: 1-6474583-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474583C>T , CM000663.2:g.6474583C>T GRCh38
NC_000001.10:g.6534643C>T , CM000663.1:g.6534643C>T GRCh37
NC_000001.9:g.6457230C>T NCBI36
NG_007978.1:g.50427G>A , LRG_262:g.50427G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.307G>A ENSP00000344570.5:p.Val103Met
ENST00000377728.8:c.307G>A MANE Select ENSP00000366957.3:p.Val103Met
ENST00000377740.5:c.307G>A ENSP00000366969.4:p.Val103Met
ENST00000377748.6:c.481G>A ENSP00000366977.2:p.Val161Met
ENST00000400913.6:c.307G>A ENSP00000383704.1:p.Val103Met
ENST00000400915.8:c.418G>A ENSP00000383706.4:p.Val140Met
ENST00000489097.6:n.783G>A
ENST00000535355.6:c.514G>A ENSP00000441445.1:p.Val172Met
ENST00000537245.6:c.418G>A ENSP00000439625.2:p.Val140Met
ENST00000673471.2:c.604G>A ENSP00000500749.1:p.Val202Met
ENST00000674790.1:c.*519G>A ENSP00000502815.1:n.*519G>A
ENST00000675093.1:c.307G>A ENSP00000502687.1:p.Val103Met
ENST00000675123.1:c.307G>A ENSP00000502132.1:p.Val103Met
ENST00000675548.1:c.*135G>A ENSP00000502684.1:n.*135G>A
ENST00000675694.1:c.307G>A ENSP00000501925.1:p.Val103Met
ENST00000676255.1:c.269G>A ENSP00000502459.1:n.269G>A
ENST00000676287.1:c.307G>A ENSP00000502810.1:p.Val103Met
ENST00000340850.9:c.307G>A ENSP00000344570.5:p.Val103Met
ENST00000377725.5:c.307G>A ENSP00000366954.1:p.Val103Met
ENST00000377728.7:c.307G>A ENSP00000366957.3:p.Val103Met
ENST00000377732.5:c.418G>A ENSP00000366961.1:p.Val140Met
ENST00000377740.4:c.538G>A ENSP00000366969.3:p.Val180Met
ENST00000377748.5:c.538G>A ENSP00000366977.1:p.Val180Met
ENST00000400913.5:c.307G>A ENSP00000383704.1:p.Val103Met
ENST00000400915.7:c.475G>A ENSP00000383706.3:p.Val159Met
ENST00000489097.5:n.783G>A
ENST00000535355.5:c.514G>A ENSP00000441445.1:p.Val172Met
ENST00000537245.5:c.544G>A ENSP00000439625.1:p.Val182Met
NM_001042663.1:c.475G>A NP_001036128.1:p.Val159Met
NM_001042664.1:c.307G>A NP_001036129.1:p.Val103Met
NM_001042665.1:c.307G>A NP_001036130.1:p.Val103Met
NM_001265592.1:c.544G>A NP_001252521.1:p.Val182Met
NM_001265593.1:c.514G>A NP_001252522.1:p.Val172Met
NM_001265594.1:c.307G>A NP_001252523.1:p.Val103Met
NM_020631.4:c.307G>A NP_065682.2:p.Val103Met
NM_198681.3:c.538G>A NP_941374.2:p.Val180Met
NM_001042663.2:c.475G>A NP_001036128.1:p.Val159Met
NM_001265594.2:c.307G>A NP_001252523.1:p.Val103Met
NM_020631.5:c.307G>A NP_065682.2:p.Val103Met
NM_001042663.3:c.418G>A NP_001036128.2:p.Val140Met
NM_001265592.2:c.418G>A NP_001252521.2:p.Val140Met
NM_020631.6:c.307G>A MANE Select NP_065682.2:p.Val103Met
NM_198681.4:c.307G>A NP_941374.3:p.Val103Met