Canonical Allele Identifier: CA561088
Community Standard Title: NM_020631.6(PLEKHG5):c.2826C>T (p.Val942=)
Gene: PLEKHG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6468010G>A , CM000663.2:g.6468010G>A GRCh38
NC_000001.10:g.6528070G>A , CM000663.1:g.6528070G>A GRCh37
NC_000001.9:g.6450657G>A NCBI36
NG_007978.1:g.57000C>T , LRG_262:g.57000C>T
NG_029910.1:g.3186C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020631.6:c.2826C>T MANE Select NP_065682.2:p.Val942=
ENST00000377728.8:c.2826C>T MANE Select ENSP00000366957.3:p.Val942=
NM_001042663.1:c.2994C>T NP_001036128.1:p.Val998=
NM_001042663.2:c.2994C>T NP_001036128.1:p.Val998=
NM_001042663.3:c.2937C>T NP_001036128.2:p.Val979=
NM_001042664.1:c.2826C>T NP_001036129.1:p.Val942=
NM_001042665.1:c.2826C>T NP_001036130.1:p.Val942=
NM_001265592.1:c.3063C>T NP_001252521.1:p.Val1021=
NM_001265592.2:c.2937C>T NP_001252521.2:p.Val979=
NM_001265593.1:c.3033C>T NP_001252522.1:p.Val1011=
NM_001265594.1:c.2737+89C>T NP_001252523.1:n.2737+89C>T
NM_001265594.2:c.2737+89C>T NP_001252523.1:n.2737+89C>T
NM_020631.4:c.2826C>T NP_065682.2:p.Val942=
NM_020631.5:c.2826C>T NP_065682.2:p.Val942=
NM_198681.3:c.3057C>T NP_941374.2:p.Val1019=
NM_198681.4:c.2826C>T NP_941374.3:p.Val942=
ENST00000340850.10:c.2826C>T ENSP00000344570.5:p.Val942=
ENST00000340850.9:c.2826C>T ENSP00000344570.5:p.Val942=
ENST00000377725.5:c.2737+89C>T ENSP00000366954.1:n.2737+89C>T
ENST00000377728.7:c.2826C>T ENSP00000366957.3:p.Val942=
ENST00000377732.5:c.2937C>T ENSP00000366961.1:p.Val979=
ENST00000377740.4:c.2481-117C>T ENSP00000366969.3:n.2481-117C>T
ENST00000377740.5:c.2826C>T ENSP00000366969.4:p.Val942=
ENST00000377748.5:c.3057C>T ENSP00000366977.1:p.Val1019=
ENST00000377748.6:c.3000C>T ENSP00000366977.2:p.Val1000=
ENST00000400913.5:c.2826C>T ENSP00000383704.1:p.Val942=
ENST00000400913.6:c.2826C>T ENSP00000383704.1:p.Val942=
ENST00000400915.7:c.2994C>T ENSP00000383706.3:p.Val998=
ENST00000400915.8:c.2937C>T ENSP00000383706.4:p.Val979=
ENST00000487949.4:n.2028C>T
ENST00000489097.5:n.3302C>T
ENST00000489097.6:n.3302C>T
ENST00000535355.5:c.3033C>T ENSP00000441445.1:p.Val1011=
ENST00000535355.6:c.3033C>T ENSP00000441445.1:p.Val1011=
ENST00000537245.5:c.3063C>T ENSP00000439625.1:p.Val1021=
ENST00000537245.6:c.2937C>T ENSP00000439625.2:p.Val979=
ENST00000673471.2:c.3123C>T ENSP00000500749.1:p.Val1041=
ENST00000674790.1:c.*3038C>T ENSP00000502815.1:n.*3038C>T
ENST00000675123.1:c.2250-117C>T ENSP00000502132.1:n.2250-117C>T
ENST00000675548.1:c.*2654C>T ENSP00000502684.1:n.*2654C>T
ENST00000675694.1:c.2826C>T ENSP00000501925.1:p.Val942=
ENST00000675976.1:c.699C>T ENSP00000501611.1:p.Val233=