Canonical Allele Identifier: CA338127487
Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 468893
ClinVar RCV Id: RCV000556509
dbSNP Id: rs1309731055
gnomAD v2: 1-6531063-C-T
gnomAD v4: 1-6471003-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6471003C>T , CM000663.2:g.6471003C>T GRCh38
NC_000001.10:g.6531063C>T , CM000663.1:g.6531063C>T GRCh37
NC_000001.9:g.6453650C>T NCBI36
NG_007978.1:g.54007G>A , LRG_262:g.54007G>A
NG_029910.1:g.193G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340850.10:c.1379G>A ENSP00000344570.5:p.Arg460Gln
ENST00000377728.8:c.1379G>A MANE Select ENSP00000366957.3:p.Arg460Gln
ENST00000377740.5:c.1379G>A ENSP00000366969.4:p.Arg460Gln
ENST00000377748.6:c.1553G>A ENSP00000366977.2:p.Arg518Gln
ENST00000400913.6:c.1379G>A ENSP00000383704.1:p.Arg460Gln
ENST00000400915.8:c.1490G>A ENSP00000383706.4:p.Arg497Gln
ENST00000489097.6:n.1855G>A
ENST00000535355.6:c.1586G>A ENSP00000441445.1:p.Arg529Gln
ENST00000537245.6:c.1490G>A ENSP00000439625.2:p.Arg497Gln
ENST00000673471.2:c.1676G>A ENSP00000500749.1:p.Arg559Gln
ENST00000674685.1:n.412G>A
ENST00000674790.1:c.*1591G>A ENSP00000502815.1:n.*1591G>A
ENST00000675123.1:c.1379G>A ENSP00000502132.1:p.Arg460Gln
ENST00000675548.1:c.*1207G>A ENSP00000502684.1:n.*1207G>A
ENST00000675694.1:c.1379G>A ENSP00000501925.1:p.Arg460Gln
ENST00000340850.9:c.1379G>A ENSP00000344570.5:p.Arg460Gln
ENST00000377725.5:c.1379G>A ENSP00000366954.1:p.Arg460Gln
ENST00000377728.7:c.1379G>A ENSP00000366957.3:p.Arg460Gln
ENST00000377732.5:c.1490G>A ENSP00000366961.1:p.Arg497Gln
ENST00000377740.4:c.1610G>A ENSP00000366969.3:p.Arg537Gln
ENST00000377748.5:c.1610G>A ENSP00000366977.1:p.Arg537Gln
ENST00000400913.5:c.1379G>A ENSP00000383704.1:p.Arg460Gln
ENST00000400915.7:c.1547G>A ENSP00000383706.3:p.Arg516Gln
ENST00000487949.4:n.581G>A
ENST00000489097.5:n.1855G>A
ENST00000535355.5:c.1586G>A ENSP00000441445.1:p.Arg529Gln
ENST00000537245.5:c.1616G>A ENSP00000439625.1:p.Arg539Gln
NM_001042663.1:c.1547G>A NP_001036128.1:p.Arg516Gln
NM_001042664.1:c.1379G>A NP_001036129.1:p.Arg460Gln
NM_001042665.1:c.1379G>A NP_001036130.1:p.Arg460Gln
NM_001265592.1:c.1616G>A NP_001252521.1:p.Arg539Gln
NM_001265593.1:c.1586G>A NP_001252522.1:p.Arg529Gln
NM_001265594.1:c.1379G>A NP_001252523.1:p.Arg460Gln
NM_020631.4:c.1379G>A NP_065682.2:p.Arg460Gln
NM_198681.3:c.1610G>A NP_941374.2:p.Arg537Gln
NM_001042663.2:c.1547G>A NP_001036128.1:p.Arg516Gln
NM_001265594.2:c.1379G>A NP_001252523.1:p.Arg460Gln
NM_020631.5:c.1379G>A NP_065682.2:p.Arg460Gln
NM_001042663.3:c.1490G>A NP_001036128.2:p.Arg497Gln
NM_001265592.2:c.1490G>A NP_001252521.2:p.Arg497Gln
NM_020631.6:c.1379G>A MANE Select NP_065682.2:p.Arg460Gln
NM_198681.4:c.1379G>A NP_941374.3:p.Arg460Gln