Canonical Allele Identifier: CA416022293
Gene: PLEKHG5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6528610A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6468550A>T , CM000663.2:g.6468550A>T GRCh38
NC_000001.10:g.6528610A>T , CM000663.1:g.6528610A>T GRCh37
NC_000001.9:g.6451197A>T NCBI36
NG_007978.1:g.56460T>A , LRG_262:g.56460T>A
NG_029910.1:g.2646T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.2286T>A ENSP00000344570.5:p.Val762=
ENST00000377728.8:c.2286T>A MANE Select ENSP00000366957.3:p.Val762=
ENST00000377740.5:c.2286T>A ENSP00000366969.4:p.Val762=
ENST00000377748.6:c.2460T>A ENSP00000366977.2:p.Val820=
ENST00000400913.6:c.2286T>A ENSP00000383704.1:p.Val762=
ENST00000400915.8:c.2397T>A ENSP00000383706.4:p.Val799=
ENST00000489097.6:n.2762T>A
ENST00000535355.6:c.2493T>A ENSP00000441445.1:p.Val831=
ENST00000537245.6:c.2397T>A ENSP00000439625.2:p.Val799=
ENST00000673471.2:c.2583T>A ENSP00000500749.1:p.Val861=
ENST00000674790.1:c.*2498T>A ENSP00000502815.1:n.*2498T>A
ENST00000675123.1:c.2249+492T>A ENSP00000502132.1:n.2249+492T>A
ENST00000675548.1:c.*2114T>A ENSP00000502684.1:n.*2114T>A
ENST00000675694.1:c.2286T>A ENSP00000501925.1:p.Val762=
ENST00000675976.1:c.159T>A ENSP00000501611.1:p.Val53=
ENST00000340850.9:c.2286T>A ENSP00000344570.5:p.Val762=
ENST00000377725.5:c.2286T>A ENSP00000366954.1:p.Val762=
ENST00000377728.7:c.2286T>A ENSP00000366957.3:p.Val762=
ENST00000377732.5:c.2397T>A ENSP00000366961.1:p.Val799=
ENST00000377740.4:c.2480+492T>A ENSP00000366969.3:n.2480+492T>A
ENST00000377748.5:c.2517T>A ENSP00000366977.1:p.Val839=
ENST00000400913.5:c.2286T>A ENSP00000383704.1:p.Val762=
ENST00000400915.7:c.2454T>A ENSP00000383706.3:p.Val818=
ENST00000487949.4:n.1488T>A
ENST00000489097.5:n.2762T>A
ENST00000535355.5:c.2493T>A ENSP00000441445.1:p.Val831=
ENST00000537245.5:c.2523T>A ENSP00000439625.1:p.Val841=
NM_001042663.1:c.2454T>A NP_001036128.1:p.Val818=
NM_001042664.1:c.2286T>A NP_001036129.1:p.Val762=
NM_001042665.1:c.2286T>A NP_001036130.1:p.Val762=
NM_001265592.1:c.2523T>A NP_001252521.1:p.Val841=
NM_001265593.1:c.2493T>A NP_001252522.1:p.Val831=
NM_001265594.1:c.2286T>A NP_001252523.1:p.Val762=
NM_020631.4:c.2286T>A NP_065682.2:p.Val762=
NM_198681.3:c.2517T>A NP_941374.2:p.Val839=
NM_001042663.2:c.2454T>A NP_001036128.1:p.Val818=
NM_001265594.2:c.2286T>A NP_001252523.1:p.Val762=
NM_020631.5:c.2286T>A NP_065682.2:p.Val762=
NM_001042663.3:c.2397T>A NP_001036128.2:p.Val799=
NM_001265592.2:c.2397T>A NP_001252521.2:p.Val799=
NM_020631.6:c.2286T>A MANE Select NP_065682.2:p.Val762=
NM_198681.4:c.2286T>A NP_941374.3:p.Val762=