Canonical Allele Identifier: CA415834123
Gene: PLEKHG5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6534560G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474500G>T , CM000663.2:g.6474500G>T GRCh38
NC_000001.10:g.6534560G>T , CM000663.1:g.6534560G>T GRCh37
NC_000001.9:g.6457147G>T NCBI36
NG_007978.1:g.50510C>A , LRG_262:g.50510C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.390C>A ENSP00000344570.5:p.Ser130=
ENST00000377728.8:c.390C>A MANE Select ENSP00000366957.3:p.Ser130=
ENST00000377740.5:c.390C>A ENSP00000366969.4:p.Ser130=
ENST00000377748.6:c.564C>A ENSP00000366977.2:p.Ser188=
ENST00000400913.6:c.390C>A ENSP00000383704.1:p.Ser130=
ENST00000400915.8:c.501C>A ENSP00000383706.4:p.Ser167=
ENST00000489097.6:n.866C>A
ENST00000535355.6:c.597C>A ENSP00000441445.1:p.Ser199=
ENST00000537245.6:c.501C>A ENSP00000439625.2:p.Ser167=
ENST00000673471.2:c.687C>A ENSP00000500749.1:p.Ser229=
ENST00000674790.1:c.*602C>A ENSP00000502815.1:n.*602C>A
ENST00000675123.1:c.390C>A ENSP00000502132.1:p.Ser130=
ENST00000675548.1:c.*218C>A ENSP00000502684.1:n.*218C>A
ENST00000675694.1:c.390C>A ENSP00000501925.1:p.Ser130=
ENST00000676255.1:c.352C>A ENSP00000502459.1:n.352C>A
ENST00000340850.9:c.390C>A ENSP00000344570.5:p.Ser130=
ENST00000377725.5:c.390C>A ENSP00000366954.1:p.Ser130=
ENST00000377728.7:c.390C>A ENSP00000366957.3:p.Ser130=
ENST00000377732.5:c.501C>A ENSP00000366961.1:p.Ser167=
ENST00000377740.4:c.621C>A ENSP00000366969.3:p.Ser207=
ENST00000377748.5:c.621C>A ENSP00000366977.1:p.Ser207=
ENST00000400913.5:c.390C>A ENSP00000383704.1:p.Ser130=
ENST00000400915.7:c.558C>A ENSP00000383706.3:p.Ser186=
ENST00000489097.5:n.866C>A
ENST00000535355.5:c.597C>A ENSP00000441445.1:p.Ser199=
ENST00000537245.5:c.627C>A ENSP00000439625.1:p.Ser209=
NM_001042663.1:c.558C>A NP_001036128.1:p.Ser186=
NM_001042664.1:c.390C>A NP_001036129.1:p.Ser130=
NM_001042665.1:c.390C>A NP_001036130.1:p.Ser130=
NM_001265592.1:c.627C>A NP_001252521.1:p.Ser209=
NM_001265593.1:c.597C>A NP_001252522.1:p.Ser199=
NM_001265594.1:c.390C>A NP_001252523.1:p.Ser130=
NM_020631.4:c.390C>A NP_065682.2:p.Ser130=
NM_198681.3:c.621C>A NP_941374.2:p.Ser207=
NM_001042663.2:c.558C>A NP_001036128.1:p.Ser186=
NM_001265594.2:c.390C>A NP_001252523.1:p.Ser130=
NM_020631.5:c.390C>A NP_065682.2:p.Ser130=
NM_001042663.3:c.501C>A NP_001036128.2:p.Ser167=
NM_001265592.2:c.501C>A NP_001252521.2:p.Ser167=
NM_020631.6:c.390C>A MANE Select NP_065682.2:p.Ser130=
NM_198681.4:c.390C>A NP_941374.3:p.Ser130=