Canonical Allele Identifier: CA338141806

Gene: PLEKHG5

Linked Data

• MyVariant Identifiers: chr1:g.6537589C>A (hg19) ; chr1:g.6477529C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6477529C>A , CM000663.2:g.6477529C>A	GRCh38
NC_000001.10:g.6537589C>A , CM000663.1:g.6537589C>A	GRCh37
NC_000001.9:g.6460176C>A	NCBI36
NG_007978.1:g.47481G>T , LRG_262:g.47481G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.43G>T	ENSP00000344570.5:p.Gly15Cys
ENST00000377728.8:c.43G>T MANE Select	ENSP00000366957.3:p.Gly15Cys
ENST00000377740.5:c.43G>T	ENSP00000366969.4:p.Gly15Cys
ENST00000377748.6:c.154G>T	ENSP00000366977.2:p.Gly52Trp
ENST00000400913.6:c.43G>T	ENSP00000383704.1:p.Gly15Cys
ENST00000400915.8:c.154G>T	ENSP00000383706.4:p.Gly52Cys
ENST00000489097.6:n.60G>T
ENST00000535355.6:c.250G>T	ENSP00000441445.1:p.Gly84Cys
ENST00000537245.6:c.154G>T	ENSP00000439625.2:p.Gly52Cys
ENST00000673471.2:c.340G>T	ENSP00000500749.1:p.Gly114Cys
ENST00000674790.1:c.*255G>T	ENSP00000502815.1:n.*255G>T
ENST00000674803.1:n.273G>T
ENST00000675093.1:c.43G>T	ENSP00000502687.1:p.Gly15Cys
ENST00000675123.1:c.43G>T	ENSP00000502132.1:p.Gly15Cys
ENST00000675548.1:c.228G>T	ENSP00000502684.1:p.Lys76Asn
ENST00000675655.1:n.249G>T
ENST00000675694.1:c.43G>T	ENSP00000501925.1:p.Gly15Cys
ENST00000676287.1:c.43G>T	ENSP00000502810.1:p.Gly15Cys
ENST00000676362.1:n.266G>T
ENST00000340850.9:c.43G>T	ENSP00000344570.5:p.Gly15Cys
ENST00000377725.5:c.43G>T	ENSP00000366954.1:p.Gly15Cys
ENST00000377728.7:c.43G>T	ENSP00000366957.3:p.Gly15Cys
ENST00000377732.5:c.154G>T	ENSP00000366961.1:p.Gly52Cys
ENST00000377740.4:c.274G>T	ENSP00000366969.3:p.Gly92Cys
ENST00000377748.5:c.274G>T	ENSP00000366977.1:p.Gly92Cys
ENST00000400913.5:c.43G>T	ENSP00000383704.1:p.Gly15Cys
ENST00000400915.7:c.211G>T	ENSP00000383706.3:p.Gly71Cys
ENST00000489097.5:n.60G>T
ENST00000535355.5:c.250G>T	ENSP00000441445.1:p.Gly84Cys
ENST00000537245.5:c.280G>T	ENSP00000439625.1:p.Gly94Cys
NM_001042663.1:c.211G>T	NP_001036128.1:p.Gly71Cys
NM_001042664.1:c.43G>T	NP_001036129.1:p.Gly15Cys
NM_001042665.1:c.43G>T	NP_001036130.1:p.Gly15Cys
NM_001265592.1:c.280G>T	NP_001252521.1:p.Gly94Cys
NM_001265593.1:c.250G>T	NP_001252522.1:p.Gly84Cys
NM_001265594.1:c.43G>T	NP_001252523.1:p.Gly15Cys
NM_020631.4:c.43G>T	NP_065682.2:p.Gly15Cys
NM_198681.3:c.274G>T	NP_941374.2:p.Gly92Cys
NM_001042663.2:c.211G>T	NP_001036128.1:p.Gly71Cys
NM_001265594.2:c.43G>T	NP_001252523.1:p.Gly15Cys
NM_020631.5:c.43G>T	NP_065682.2:p.Gly15Cys
NM_001042663.3:c.154G>T	NP_001036128.2:p.Gly52Cys
NM_001265592.2:c.154G>T	NP_001252521.2:p.Gly52Cys
NM_020631.6:c.43G>T MANE Select	NP_065682.2:p.Gly15Cys
NM_198681.4:c.43G>T	NP_941374.3:p.Gly15Cys