Canonical Allele Identifier: CA1146712596
Gene: PLEKHG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6469179C= , CM000663.2:g.6469179C= GRCh38
NC_000001.10:g.6529239C= , CM000663.1:g.6529239C= GRCh37
NC_000001.9:g.6451826C= NCBI36
NG_007978.1:g.55831G= , LRG_262:g.55831G=
NG_029910.1:g.2017G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.2112G= ENSP00000344570.5:p.Leu704=
ENST00000377728.8:c.2112G= MANE Select ENSP00000366957.3:p.Leu704=
ENST00000377740.5:c.2112G= ENSP00000366969.4:p.Leu704=
ENST00000377748.6:c.2286G= ENSP00000366977.2:p.Leu762=
ENST00000400913.6:c.2112G= ENSP00000383704.1:p.Leu704=
ENST00000400915.8:c.2223G= ENSP00000383706.4:p.Leu741=
ENST00000489097.6:n.2588G=
ENST00000535355.6:c.2319G= ENSP00000441445.1:p.Leu773=
ENST00000537245.6:c.2223G= ENSP00000439625.2:p.Leu741=
ENST00000673471.2:c.2409G= ENSP00000500749.1:p.Leu803=
ENST00000674790.1:c.*2324G= ENSP00000502815.1:n.*2324G=
ENST00000675123.1:c.2112G= ENSP00000502132.1:p.Leu704=
ENST00000675139.1:n.183G=
ENST00000675548.1:c.*1940G= ENSP00000502684.1:n.*1940G=
ENST00000675694.1:c.2112G= ENSP00000501925.1:p.Leu704=
ENST00000340850.9:c.2112G= ENSP00000344570.5:p.Leu704=
ENST00000377725.5:c.2112G= ENSP00000366954.1:p.Leu704=
ENST00000377728.7:c.2112G= ENSP00000366957.3:p.Leu704=
ENST00000377732.5:c.2223G= ENSP00000366961.1:p.Leu741=
ENST00000377740.4:c.2343G= ENSP00000366969.3:p.Leu781=
ENST00000377748.5:c.2343G= ENSP00000366977.1:p.Leu781=
ENST00000400913.5:c.2112G= ENSP00000383704.1:p.Leu704=
ENST00000400915.7:c.2280G= ENSP00000383706.3:p.Leu760=
ENST00000487949.4:n.1314G=
ENST00000489097.5:n.2588G=
ENST00000535355.5:c.2319G= ENSP00000441445.1:p.Leu773=
ENST00000537245.5:c.2349G= ENSP00000439625.1:p.Leu783=
NM_001042663.1:c.2280G= NP_001036128.1:p.Leu760=
NM_001042664.1:c.2112G= NP_001036129.1:p.Leu704=
NM_001042665.1:c.2112G= NP_001036130.1:p.Leu704=
NM_001265592.1:c.2349G= NP_001252521.1:p.Leu783=
NM_001265593.1:c.2319G= NP_001252522.1:p.Leu773=
NM_001265594.1:c.2112G= NP_001252523.1:p.Leu704=
NM_020631.4:c.2112G= NP_065682.2:p.Leu704=
NM_198681.3:c.2343G= NP_941374.2:p.Leu781=
NM_001042663.2:c.2280G= NP_001036128.1:p.Leu760=
NM_001265594.2:c.2112G= NP_001252523.1:p.Leu704=
NM_020631.5:c.2112G= NP_065682.2:p.Leu704=
NM_001042663.3:c.2223G= NP_001036128.2:p.Leu741=
NM_001265592.2:c.2223G= NP_001252521.2:p.Leu741=
NM_020631.6:c.2112G= MANE Select NP_065682.2:p.Leu704=
NM_198681.4:c.2112G= NP_941374.3:p.Leu704=