Canonical Allele Identifier: CA338137015

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6473363A>C , CM000663.2:g.6473363A>C	GRCh38
NC_000001.10:g.6533423A>C , CM000663.1:g.6533423A>C	GRCh37
NC_000001.9:g.6456010A>C	NCBI36
NG_007978.1:g.51647T>G , LRG_262:g.51647T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.683T>G	ENSP00000344570.5:p.Leu228Arg
ENST00000377728.8:c.683T>G MANE Select	ENSP00000366957.3:p.Leu228Arg
ENST00000377740.5:c.683T>G	ENSP00000366969.4:p.Leu228Arg
ENST00000377748.6:c.857T>G	ENSP00000366977.2:p.Leu286Arg
ENST00000400913.6:c.683T>G	ENSP00000383704.1:p.Leu228Arg
ENST00000400915.8:c.794T>G	ENSP00000383706.4:p.Leu265Arg
ENST00000489097.6:n.1159T>G
ENST00000535355.6:c.890T>G	ENSP00000441445.1:p.Leu297Arg
ENST00000537245.6:c.794T>G	ENSP00000439625.2:p.Leu265Arg
ENST00000673471.2:c.980T>G	ENSP00000500749.1:p.Leu327Arg
ENST00000674790.1:c.*895T>G	ENSP00000502815.1:n.*895T>G
ENST00000675123.1:c.683T>G	ENSP00000502132.1:p.Leu228Arg
ENST00000675548.1:c.*511T>G	ENSP00000502684.1:n.*511T>G
ENST00000675694.1:c.683T>G	ENSP00000501925.1:p.Leu228Arg
ENST00000340850.9:c.683T>G	ENSP00000344570.5:p.Leu228Arg
ENST00000377725.5:c.683T>G	ENSP00000366954.1:p.Leu228Arg
ENST00000377728.7:c.683T>G	ENSP00000366957.3:p.Leu228Arg
ENST00000377732.5:c.794T>G	ENSP00000366961.1:p.Leu265Arg
ENST00000377740.4:c.914T>G	ENSP00000366969.3:p.Leu305Arg
ENST00000377748.5:c.914T>G	ENSP00000366977.1:p.Leu305Arg
ENST00000400913.5:c.683T>G	ENSP00000383704.1:p.Leu228Arg
ENST00000400915.7:c.851T>G	ENSP00000383706.3:p.Leu284Arg
ENST00000489097.5:n.1159T>G
ENST00000535355.5:c.890T>G	ENSP00000441445.1:p.Leu297Arg
ENST00000537245.5:c.920T>G	ENSP00000439625.1:p.Leu307Arg
NM_001042663.1:c.851T>G	NP_001036128.1:p.Leu284Arg
NM_001042664.1:c.683T>G	NP_001036129.1:p.Leu228Arg
NM_001042665.1:c.683T>G	NP_001036130.1:p.Leu228Arg
NM_001265592.1:c.920T>G	NP_001252521.1:p.Leu307Arg
NM_001265593.1:c.890T>G	NP_001252522.1:p.Leu297Arg
NM_001265594.1:c.683T>G	NP_001252523.1:p.Leu228Arg
NM_020631.4:c.683T>G	NP_065682.2:p.Leu228Arg
NM_198681.3:c.914T>G	NP_941374.2:p.Leu305Arg
NM_001042663.2:c.851T>G	NP_001036128.1:p.Leu284Arg
NM_001265594.2:c.683T>G	NP_001252523.1:p.Leu228Arg
NM_020631.5:c.683T>G	NP_065682.2:p.Leu228Arg
NM_001042663.3:c.794T>G	NP_001036128.2:p.Leu265Arg
NM_001265592.2:c.794T>G	NP_001252521.2:p.Leu265Arg
NM_020631.6:c.683T>G MANE Select	NP_065682.2:p.Leu228Arg
NM_198681.4:c.683T>G	NP_941374.3:p.Leu228Arg