Canonical Allele Identifier: CA338138584

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1644682529
• gnomAD v4: 1-6474065-G-T
• MyVariant Identifiers: chr1:g.6534125G>T (hg19) ; chr1:g.6474065G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474065G>T , CM000663.2:g.6474065G>T	GRCh38
NC_000001.10:g.6534125G>T , CM000663.1:g.6534125G>T	GRCh37
NC_000001.9:g.6456712G>T	NCBI36
NG_007978.1:g.50945C>A , LRG_262:g.50945C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.539C>A	ENSP00000344570.5:p.Pro180His
ENST00000377728.8:c.539C>A MANE Select	ENSP00000366957.3:p.Pro180His
ENST00000377740.5:c.539C>A	ENSP00000366969.4:p.Pro180His
ENST00000377748.6:c.713C>A	ENSP00000366977.2:p.Pro238His
ENST00000400913.6:c.539C>A	ENSP00000383704.1:p.Pro180His
ENST00000400915.8:c.650C>A	ENSP00000383706.4:p.Pro217His
ENST00000489097.6:n.1015C>A
ENST00000535355.6:c.746C>A	ENSP00000441445.1:p.Pro249His
ENST00000537245.6:c.650C>A	ENSP00000439625.2:p.Pro217His
ENST00000673471.2:c.836C>A	ENSP00000500749.1:p.Pro279His
ENST00000674790.1:c.*751C>A	ENSP00000502815.1:n.*751C>A
ENST00000675123.1:c.539C>A	ENSP00000502132.1:p.Pro180His
ENST00000675548.1:c.*367C>A	ENSP00000502684.1:n.*367C>A
ENST00000675694.1:c.539C>A	ENSP00000501925.1:p.Pro180His
ENST00000340850.9:c.539C>A	ENSP00000344570.5:p.Pro180His
ENST00000377725.5:c.539C>A	ENSP00000366954.1:p.Pro180His
ENST00000377728.7:c.539C>A	ENSP00000366957.3:p.Pro180His
ENST00000377732.5:c.650C>A	ENSP00000366961.1:p.Pro217His
ENST00000377740.4:c.770C>A	ENSP00000366969.3:p.Pro257His
ENST00000377748.5:c.770C>A	ENSP00000366977.1:p.Pro257His
ENST00000400913.5:c.539C>A	ENSP00000383704.1:p.Pro180His
ENST00000400915.7:c.707C>A	ENSP00000383706.3:p.Pro236His
ENST00000489097.5:n.1015C>A
ENST00000535355.5:c.746C>A	ENSP00000441445.1:p.Pro249His
ENST00000537245.5:c.776C>A	ENSP00000439625.1:p.Pro259His
NM_001042663.1:c.707C>A	NP_001036128.1:p.Pro236His
NM_001042664.1:c.539C>A	NP_001036129.1:p.Pro180His
NM_001042665.1:c.539C>A	NP_001036130.1:p.Pro180His
NM_001265592.1:c.776C>A	NP_001252521.1:p.Pro259His
NM_001265593.1:c.746C>A	NP_001252522.1:p.Pro249His
NM_001265594.1:c.539C>A	NP_001252523.1:p.Pro180His
NM_020631.4:c.539C>A	NP_065682.2:p.Pro180His
NM_198681.3:c.770C>A	NP_941374.2:p.Pro257His
NM_001042663.2:c.707C>A	NP_001036128.1:p.Pro236His
NM_001265594.2:c.539C>A	NP_001252523.1:p.Pro180His
NM_020631.5:c.539C>A	NP_065682.2:p.Pro180His
NM_001042663.3:c.650C>A	NP_001036128.2:p.Pro217His
NM_001265592.2:c.650C>A	NP_001252521.2:p.Pro217His
NM_020631.6:c.539C>A MANE Select	NP_065682.2:p.Pro180His
NM_198681.4:c.539C>A	NP_941374.3:p.Pro180His