Canonical Allele Identifier: CA338139208

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs750299598
• MyVariant Identifiers: chr1:g.6534558A>C (hg19) ; chr1:g.6474498A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474498A>C , CM000663.2:g.6474498A>C	GRCh38
NC_000001.10:g.6534558A>C , CM000663.1:g.6534558A>C	GRCh37
NC_000001.9:g.6457145A>C	NCBI36
NG_007978.1:g.50512T>G , LRG_262:g.50512T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.392T>G	ENSP00000344570.5:p.Leu131Arg
ENST00000377728.8:c.392T>G MANE Select	ENSP00000366957.3:p.Leu131Arg
ENST00000377740.5:c.392T>G	ENSP00000366969.4:p.Leu131Arg
ENST00000377748.6:c.566T>G	ENSP00000366977.2:p.Leu189Arg
ENST00000400913.6:c.392T>G	ENSP00000383704.1:p.Leu131Arg
ENST00000400915.8:c.503T>G	ENSP00000383706.4:p.Leu168Arg
ENST00000489097.6:n.868T>G
ENST00000535355.6:c.599T>G	ENSP00000441445.1:p.Leu200Arg
ENST00000537245.6:c.503T>G	ENSP00000439625.2:p.Leu168Arg
ENST00000673471.2:c.689T>G	ENSP00000500749.1:p.Leu230Arg
ENST00000674790.1:c.*604T>G	ENSP00000502815.1:n.*604T>G
ENST00000675123.1:c.392T>G	ENSP00000502132.1:p.Leu131Arg
ENST00000675548.1:c.*220T>G	ENSP00000502684.1:n.*220T>G
ENST00000675694.1:c.392T>G	ENSP00000501925.1:p.Leu131Arg
ENST00000676255.1:c.354T>G	ENSP00000502459.1:n.354T>G
ENST00000340850.9:c.392T>G	ENSP00000344570.5:p.Leu131Arg
ENST00000377725.5:c.392T>G	ENSP00000366954.1:p.Leu131Arg
ENST00000377728.7:c.392T>G	ENSP00000366957.3:p.Leu131Arg
ENST00000377732.5:c.503T>G	ENSP00000366961.1:p.Leu168Arg
ENST00000377740.4:c.623T>G	ENSP00000366969.3:p.Leu208Arg
ENST00000377748.5:c.623T>G	ENSP00000366977.1:p.Leu208Arg
ENST00000400913.5:c.392T>G	ENSP00000383704.1:p.Leu131Arg
ENST00000400915.7:c.560T>G	ENSP00000383706.3:p.Leu187Arg
ENST00000489097.5:n.868T>G
ENST00000535355.5:c.599T>G	ENSP00000441445.1:p.Leu200Arg
ENST00000537245.5:c.629T>G	ENSP00000439625.1:p.Leu210Arg
NM_001042663.1:c.560T>G	NP_001036128.1:p.Leu187Arg
NM_001042664.1:c.392T>G	NP_001036129.1:p.Leu131Arg
NM_001042665.1:c.392T>G	NP_001036130.1:p.Leu131Arg
NM_001265592.1:c.629T>G	NP_001252521.1:p.Leu210Arg
NM_001265593.1:c.599T>G	NP_001252522.1:p.Leu200Arg
NM_001265594.1:c.392T>G	NP_001252523.1:p.Leu131Arg
NM_020631.4:c.392T>G	NP_065682.2:p.Leu131Arg
NM_198681.3:c.623T>G	NP_941374.2:p.Leu208Arg
NM_001042663.2:c.560T>G	NP_001036128.1:p.Leu187Arg
NM_001265594.2:c.392T>G	NP_001252523.1:p.Leu131Arg
NM_020631.5:c.392T>G	NP_065682.2:p.Leu131Arg
NM_001042663.3:c.503T>G	NP_001036128.2:p.Leu168Arg
NM_001265592.2:c.503T>G	NP_001252521.2:p.Leu168Arg
NM_020631.6:c.392T>G MANE Select	NP_065682.2:p.Leu131Arg
NM_198681.4:c.392T>G	NP_941374.3:p.Leu131Arg