Canonical Allele Identifier: CA338139154

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6474486-G-A
• MyVariant Identifiers: chr1:g.6534546G>A (hg19) ; chr1:g.6474486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474486G>A , CM000663.2:g.6474486G>A	GRCh38
NC_000001.10:g.6534546G>A , CM000663.1:g.6534546G>A	GRCh37
NC_000001.9:g.6457133G>A	NCBI36
NG_007978.1:g.50524C>T , LRG_262:g.50524C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.404C>T	ENSP00000344570.5:p.Ala135Val
ENST00000377728.8:c.404C>T MANE Select	ENSP00000366957.3:p.Ala135Val
ENST00000377740.5:c.404C>T	ENSP00000366969.4:p.Ala135Val
ENST00000377748.6:c.578C>T	ENSP00000366977.2:p.Ala193Val
ENST00000400913.6:c.404C>T	ENSP00000383704.1:p.Ala135Val
ENST00000400915.8:c.515C>T	ENSP00000383706.4:p.Ala172Val
ENST00000489097.6:n.880C>T
ENST00000535355.6:c.611C>T	ENSP00000441445.1:p.Ala204Val
ENST00000537245.6:c.515C>T	ENSP00000439625.2:p.Ala172Val
ENST00000673471.2:c.701C>T	ENSP00000500749.1:p.Ala234Val
ENST00000674790.1:c.*616C>T	ENSP00000502815.1:n.*616C>T
ENST00000675123.1:c.404C>T	ENSP00000502132.1:p.Ala135Val
ENST00000675548.1:c.*232C>T	ENSP00000502684.1:n.*232C>T
ENST00000675694.1:c.404C>T	ENSP00000501925.1:p.Ala135Val
ENST00000676255.1:c.366C>T	ENSP00000502459.1:n.366C>T
ENST00000340850.9:c.404C>T	ENSP00000344570.5:p.Ala135Val
ENST00000377725.5:c.404C>T	ENSP00000366954.1:p.Ala135Val
ENST00000377728.7:c.404C>T	ENSP00000366957.3:p.Ala135Val
ENST00000377732.5:c.515C>T	ENSP00000366961.1:p.Ala172Val
ENST00000377740.4:c.635C>T	ENSP00000366969.3:p.Ala212Val
ENST00000377748.5:c.635C>T	ENSP00000366977.1:p.Ala212Val
ENST00000400913.5:c.404C>T	ENSP00000383704.1:p.Ala135Val
ENST00000400915.7:c.572C>T	ENSP00000383706.3:p.Ala191Val
ENST00000489097.5:n.880C>T
ENST00000535355.5:c.611C>T	ENSP00000441445.1:p.Ala204Val
ENST00000537245.5:c.641C>T	ENSP00000439625.1:p.Ala214Val
NM_001042663.1:c.572C>T	NP_001036128.1:p.Ala191Val
NM_001042664.1:c.404C>T	NP_001036129.1:p.Ala135Val
NM_001042665.1:c.404C>T	NP_001036130.1:p.Ala135Val
NM_001265592.1:c.641C>T	NP_001252521.1:p.Ala214Val
NM_001265593.1:c.611C>T	NP_001252522.1:p.Ala204Val
NM_001265594.1:c.404C>T	NP_001252523.1:p.Ala135Val
NM_020631.4:c.404C>T	NP_065682.2:p.Ala135Val
NM_198681.3:c.635C>T	NP_941374.2:p.Ala212Val
NM_001042663.2:c.572C>T	NP_001036128.1:p.Ala191Val
NM_001265594.2:c.404C>T	NP_001252523.1:p.Ala135Val
NM_020631.5:c.404C>T	NP_065682.2:p.Ala135Val
NM_001042663.3:c.515C>T	NP_001036128.2:p.Ala172Val
NM_001265592.2:c.515C>T	NP_001252521.2:p.Ala172Val
NM_020631.6:c.404C>T MANE Select	NP_065682.2:p.Ala135Val
NM_198681.4:c.404C>T	NP_941374.3:p.Ala135Val