Canonical Allele Identifier: CA561129
Community Standard Title: NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=)
Gene: PLEKHG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6468259G>A , CM000663.2:g.6468259G>A GRCh38
NC_000001.10:g.6528319G>A , CM000663.1:g.6528319G>A GRCh37
NC_000001.9:g.6450906G>A NCBI36
NG_007978.1:g.56751C>T , LRG_262:g.56751C>T
NG_029910.1:g.2937C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020631.6:c.2577C>T MANE Select NP_065682.2:p.Arg859=
ENST00000377728.8:c.2577C>T MANE Select ENSP00000366957.3:p.Arg859=
NM_001042663.1:c.2745C>T NP_001036128.1:p.Arg915=
NM_001042663.2:c.2745C>T NP_001036128.1:p.Arg915=
NM_001042663.3:c.2688C>T NP_001036128.2:p.Arg896=
NM_001042664.1:c.2577C>T NP_001036129.1:p.Arg859=
NM_001042665.1:c.2577C>T NP_001036130.1:p.Arg859=
NM_001265592.1:c.2814C>T NP_001252521.1:p.Arg938=
NM_001265592.2:c.2688C>T NP_001252521.2:p.Arg896=
NM_001265593.1:c.2784C>T NP_001252522.1:p.Arg928=
NM_001265594.1:c.2577C>T NP_001252523.1:p.Arg859=
NM_001265594.2:c.2577C>T NP_001252523.1:p.Arg859=
NM_020631.4:c.2577C>T NP_065682.2:p.Arg859=
NM_020631.5:c.2577C>T NP_065682.2:p.Arg859=
NM_198681.3:c.2808C>T NP_941374.2:p.Arg936=
NM_198681.4:c.2577C>T NP_941374.3:p.Arg859=
ENST00000340850.10:c.2577C>T ENSP00000344570.5:p.Arg859=
ENST00000340850.9:c.2577C>T ENSP00000344570.5:p.Arg859=
ENST00000377725.5:c.2577C>T ENSP00000366954.1:p.Arg859=
ENST00000377728.7:c.2577C>T ENSP00000366957.3:p.Arg859=
ENST00000377732.5:c.2688C>T ENSP00000366961.1:p.Arg896=
ENST00000377740.4:c.2481-366C>T ENSP00000366969.3:n.2481-366C>T
ENST00000377740.5:c.2577C>T ENSP00000366969.4:p.Arg859=
ENST00000377748.5:c.2808C>T ENSP00000366977.1:p.Arg936=
ENST00000377748.6:c.2751C>T ENSP00000366977.2:p.Arg917=
ENST00000400913.5:c.2577C>T ENSP00000383704.1:p.Arg859=
ENST00000400913.6:c.2577C>T ENSP00000383704.1:p.Arg859=
ENST00000400915.7:c.2745C>T ENSP00000383706.3:p.Arg915=
ENST00000400915.8:c.2688C>T ENSP00000383706.4:p.Arg896=
ENST00000487949.4:n.1779C>T
ENST00000489097.5:n.3053C>T
ENST00000489097.6:n.3053C>T
ENST00000535355.5:c.2784C>T ENSP00000441445.1:p.Arg928=
ENST00000535355.6:c.2784C>T ENSP00000441445.1:p.Arg928=
ENST00000537245.5:c.2814C>T ENSP00000439625.1:p.Arg938=
ENST00000537245.6:c.2688C>T ENSP00000439625.2:p.Arg896=
ENST00000673471.2:c.2874C>T ENSP00000500749.1:p.Arg958=
ENST00000674790.1:c.*2789C>T ENSP00000502815.1:n.*2789C>T
ENST00000675123.1:c.2250-366C>T ENSP00000502132.1:n.2250-366C>T
ENST00000675548.1:c.*2405C>T ENSP00000502684.1:n.*2405C>T
ENST00000675694.1:c.2577C>T ENSP00000501925.1:p.Arg859=
ENST00000675976.1:c.450C>T ENSP00000501611.1:p.Arg150=