Canonical Allele Identifier: CA561918
Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 245867
dbSNP Id: rs371516662
gnomAD v2: 1-6535135-C-T
gnomAD v3: 1-6475075-C-T
gnomAD v4: 1-6475075-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6475075C>T , CM000663.2:g.6475075C>T GRCh38
NC_000001.10:g.6535135C>T , CM000663.1:g.6535135C>T GRCh37
NC_000001.9:g.6457722C>T NCBI36
NG_007978.1:g.49935G>A , LRG_262:g.49935G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340850.10:c.274G>A ENSP00000344570.5:p.Val92Ile
ENST00000377728.8:c.274G>A MANE Select ENSP00000366957.3:p.Val92Ile
ENST00000377740.5:c.274G>A ENSP00000366969.4:p.Val92Ile
ENST00000377748.6:c.448G>A ENSP00000366977.2:p.Val150Ile
ENST00000400913.6:c.274G>A ENSP00000383704.1:p.Val92Ile
ENST00000400915.8:c.385G>A ENSP00000383706.4:p.Val129Ile
ENST00000489097.6:n.291G>A
ENST00000535355.6:c.481G>A ENSP00000441445.1:p.Val161Ile
ENST00000537245.6:c.385G>A ENSP00000439625.2:p.Val129Ile
ENST00000673471.2:c.571G>A ENSP00000500749.1:p.Val191Ile
ENST00000674790.1:c.*486G>A ENSP00000502815.1:n.*486G>A
ENST00000675093.1:c.274G>A ENSP00000502687.1:p.Val92Ile
ENST00000675123.1:c.274G>A ENSP00000502132.1:p.Val92Ile
ENST00000675548.1:c.*102G>A ENSP00000502684.1:n.*102G>A
ENST00000675694.1:c.274G>A ENSP00000501925.1:p.Val92Ile
ENST00000676255.1:c.100G>A ENSP00000502459.1:p.Val34Ile
ENST00000676287.1:c.274G>A ENSP00000502810.1:p.Val92Ile
ENST00000340850.9:c.274G>A ENSP00000344570.5:p.Val92Ile
ENST00000377725.5:c.274G>A ENSP00000366954.1:p.Val92Ile
ENST00000377728.7:c.274G>A ENSP00000366957.3:p.Val92Ile
ENST00000377732.5:c.385G>A ENSP00000366961.1:p.Val129Ile
ENST00000377740.4:c.505G>A ENSP00000366969.3:p.Val169Ile
ENST00000377748.5:c.505G>A ENSP00000366977.1:p.Val169Ile
ENST00000400913.5:c.274G>A ENSP00000383704.1:p.Val92Ile
ENST00000400915.7:c.442G>A ENSP00000383706.3:p.Val148Ile
ENST00000489097.5:n.291G>A
ENST00000535355.5:c.481G>A ENSP00000441445.1:p.Val161Ile
ENST00000537245.5:c.511G>A ENSP00000439625.1:p.Val171Ile
NM_001042663.1:c.442G>A NP_001036128.1:p.Val148Ile
NM_001042664.1:c.274G>A NP_001036129.1:p.Val92Ile
NM_001042665.1:c.274G>A NP_001036130.1:p.Val92Ile
NM_001265592.1:c.511G>A NP_001252521.1:p.Val171Ile
NM_001265593.1:c.481G>A NP_001252522.1:p.Val161Ile
NM_001265594.1:c.274G>A NP_001252523.1:p.Val92Ile
NM_020631.4:c.274G>A NP_065682.2:p.Val92Ile
NM_198681.3:c.505G>A NP_941374.2:p.Val169Ile
NM_001042663.2:c.442G>A NP_001036128.1:p.Val148Ile
NM_001265594.2:c.274G>A NP_001252523.1:p.Val92Ile
NM_020631.5:c.274G>A NP_065682.2:p.Val92Ile
NM_001042663.3:c.385G>A NP_001036128.2:p.Val129Ile
NM_001265592.2:c.385G>A NP_001252521.2:p.Val129Ile
NM_020631.6:c.274G>A MANE Select NP_065682.2:p.Val92Ile
NM_198681.4:c.274G>A NP_941374.3:p.Val92Ile