Canonical Allele Identifier: CA338139039

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1233457763
• gnomAD v3: 1-6474457-C-T
• gnomAD v4: 1-6474457-C-T
• MyVariant Identifiers: chr1:g.6534517C>T (hg19) ; chr1:g.6474457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474457C>T , CM000663.2:g.6474457C>T	GRCh38
NC_000001.10:g.6534517C>T , CM000663.1:g.6534517C>T	GRCh37
NC_000001.9:g.6457104C>T	NCBI36
NG_007978.1:g.50553G>A , LRG_262:g.50553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.433G>A	ENSP00000344570.5:p.Val145Ile
ENST00000377728.8:c.433G>A MANE Select	ENSP00000366957.3:p.Val145Ile
ENST00000377740.5:c.433G>A	ENSP00000366969.4:p.Val145Ile
ENST00000377748.6:c.607G>A	ENSP00000366977.2:p.Val203Ile
ENST00000400913.6:c.433G>A	ENSP00000383704.1:p.Val145Ile
ENST00000400915.8:c.544G>A	ENSP00000383706.4:p.Val182Ile
ENST00000489097.6:n.909G>A
ENST00000535355.6:c.640G>A	ENSP00000441445.1:p.Val214Ile
ENST00000537245.6:c.544G>A	ENSP00000439625.2:p.Val182Ile
ENST00000673471.2:c.730G>A	ENSP00000500749.1:p.Val244Ile
ENST00000674790.1:c.*645G>A	ENSP00000502815.1:n.*645G>A
ENST00000675123.1:c.433G>A	ENSP00000502132.1:p.Val145Ile
ENST00000675548.1:c.*261G>A	ENSP00000502684.1:n.*261G>A
ENST00000675694.1:c.433G>A	ENSP00000501925.1:p.Val145Ile
ENST00000676255.1:c.395G>A	ENSP00000502459.1:n.395G>A
ENST00000340850.9:c.433G>A	ENSP00000344570.5:p.Val145Ile
ENST00000377725.5:c.433G>A	ENSP00000366954.1:p.Val145Ile
ENST00000377728.7:c.433G>A	ENSP00000366957.3:p.Val145Ile
ENST00000377732.5:c.544G>A	ENSP00000366961.1:p.Val182Ile
ENST00000377740.4:c.664G>A	ENSP00000366969.3:p.Val222Ile
ENST00000377748.5:c.664G>A	ENSP00000366977.1:p.Val222Ile
ENST00000400913.5:c.433G>A	ENSP00000383704.1:p.Val145Ile
ENST00000400915.7:c.601G>A	ENSP00000383706.3:p.Val201Ile
ENST00000489097.5:n.909G>A
ENST00000535355.5:c.640G>A	ENSP00000441445.1:p.Val214Ile
ENST00000537245.5:c.670G>A	ENSP00000439625.1:p.Val224Ile
NM_001042663.1:c.601G>A	NP_001036128.1:p.Val201Ile
NM_001042664.1:c.433G>A	NP_001036129.1:p.Val145Ile
NM_001042665.1:c.433G>A	NP_001036130.1:p.Val145Ile
NM_001265592.1:c.670G>A	NP_001252521.1:p.Val224Ile
NM_001265593.1:c.640G>A	NP_001252522.1:p.Val214Ile
NM_001265594.1:c.433G>A	NP_001252523.1:p.Val145Ile
NM_020631.4:c.433G>A	NP_065682.2:p.Val145Ile
NM_198681.3:c.664G>A	NP_941374.2:p.Val222Ile
NM_001042663.2:c.601G>A	NP_001036128.1:p.Val201Ile
NM_001265594.2:c.433G>A	NP_001252523.1:p.Val145Ile
NM_020631.5:c.433G>A	NP_065682.2:p.Val145Ile
NM_001042663.3:c.544G>A	NP_001036128.2:p.Val182Ile
NM_001265592.2:c.544G>A	NP_001252521.2:p.Val182Ile
NM_020631.6:c.433G>A MANE Select	NP_065682.2:p.Val145Ile
NM_198681.4:c.433G>A	NP_941374.3:p.Val145Ile