Canonical Allele Identifier: CA241980
Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 195528
dbSNP Id: rs768995193

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6468272G>A , CM000663.2:g.6468272G>A GRCh38
NC_000001.10:g.6528332G>A , CM000663.1:g.6528332G>A GRCh37
NC_000001.9:g.6450919G>A NCBI36
NG_007978.1:g.56738C>T , LRG_262:g.56738C>T
NG_029910.1:g.2924C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340850.10:c.2564C>T ENSP00000344570.5:p.Ser855Leu
ENST00000377728.8:c.2564C>T MANE Select ENSP00000366957.3:p.Ser855Leu
ENST00000377740.5:c.2564C>T ENSP00000366969.4:p.Ser855Leu
ENST00000377748.6:c.2738C>T ENSP00000366977.2:p.Ser913Leu
ENST00000400913.6:c.2564C>T ENSP00000383704.1:p.Ser855Leu
ENST00000400915.8:c.2675C>T ENSP00000383706.4:p.Ser892Leu
ENST00000489097.6:n.3040C>T
ENST00000535355.6:c.2771C>T ENSP00000441445.1:p.Ser924Leu
ENST00000537245.6:c.2675C>T ENSP00000439625.2:p.Ser892Leu
ENST00000673471.2:n.2861C>T ENSP00000500749.1:p.Ser954Leu
ENST00000674790.1:c.*2776C>T ENSP00000502815.1:p.=
ENST00000675123.1:c.2250-379C>T ENSP00000502132.1:p.=
ENST00000675548.1:c.*2392C>T ENSP00000502684.1:p.=
ENST00000675694.1:c.2564C>T ENSP00000501925.1:p.Ser855Leu
ENST00000675976.1:n.437C>T ENSP00000501611.1:p.Ser146Leu
ENST00000340850.9:c.2564C>T ENSP00000344570.5:p.Ser855Leu
ENST00000377725.5:c.2564C>T ENSP00000366954.1:p.Ser855Leu
ENST00000377728.7:c.2564C>T ENSP00000366957.3:p.Ser855Leu
ENST00000377732.5:c.2675C>T ENSP00000366961.1:p.Ser892Leu
ENST00000377740.4:c.2481-379C>T ENSP00000366969.3:p.=
ENST00000377748.5:c.2795C>T ENSP00000366977.1:p.Ser932Leu
ENST00000400913.5:c.2564C>T ENSP00000383704.1:p.Ser855Leu
ENST00000400915.7:c.2732C>T ENSP00000383706.3:p.Ser911Leu
ENST00000487949.4:n.1766C>T
ENST00000489097.5:n.3040C>T
ENST00000535355.5:c.2771C>T ENSP00000441445.1:p.Ser924Leu
ENST00000537245.5:c.2801C>T ENSP00000439625.1:p.Ser934Leu
NM_001042663.1:c.2732C>T NP_001036128.1:p.Ser911Leu
NM_001042664.1:c.2564C>T NP_001036129.1:p.Ser855Leu
NM_001042665.1:c.2564C>T NP_001036130.1:p.Ser855Leu
NM_001265592.1:c.2801C>T NP_001252521.1:p.Ser934Leu
NM_001265593.1:c.2771C>T NP_001252522.1:p.Ser924Leu
NM_001265594.1:c.2564C>T NP_001252523.1:p.Ser855Leu
NM_020631.4:c.2564C>T NP_065682.2:p.Ser855Leu
NM_198681.3:c.2795C>T NP_941374.2:p.Ser932Leu
NM_001042663.2:c.2732C>T NP_001036128.1:p.Ser911Leu
NM_001265594.2:c.2564C>T NP_001252523.1:p.Ser855Leu
NM_020631.5:c.2564C>T NP_065682.2:p.Ser855Leu
NM_001042663.3:c.2675C>T NP_001036128.2:p.Ser892Leu
NM_001265592.2:c.2675C>T NP_001252521.2:p.Ser892Leu
NM_020631.6:c.2564C>T MANE Select NP_065682.2:p.Ser855Leu
NM_198681.4:c.2564C>T NP_941374.3:p.Ser855Leu