Canonical Allele Identifier: CA561803

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs541234129
• ExAC: 1:6534092 C / A
• gnomAD v2: 1-6534092-C-A
• gnomAD v3: 1-6474032-C-A
• gnomAD v4: 1-6474032-C-A
• MyVariant Identifiers: chr1:g.6534092C>A (hg19) ; chr1:g.6474032C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474032C>A , CM000663.2:g.6474032C>A	GRCh38
NC_000001.10:g.6534092C>A , CM000663.1:g.6534092C>A	GRCh37
NC_000001.9:g.6456679C>A	NCBI36
NG_007978.1:g.50978G>T , LRG_262:g.50978G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.572G>T	ENSP00000344570.5:p.Arg191Leu
ENST00000377728.8:c.572G>T MANE Select	ENSP00000366957.3:p.Arg191Leu
ENST00000377740.5:c.572G>T	ENSP00000366969.4:p.Arg191Leu
ENST00000377748.6:c.746G>T	ENSP00000366977.2:p.Arg249Leu
ENST00000400913.6:c.572G>T	ENSP00000383704.1:p.Arg191Leu
ENST00000400915.8:c.683G>T	ENSP00000383706.4:p.Arg228Leu
ENST00000489097.6:n.1048G>T
ENST00000535355.6:c.779G>T	ENSP00000441445.1:p.Arg260Leu
ENST00000537245.6:c.683G>T	ENSP00000439625.2:p.Arg228Leu
ENST00000673471.2:c.869G>T	ENSP00000500749.1:p.Arg290Leu
ENST00000674790.1:c.*784G>T	ENSP00000502815.1:n.*784G>T
ENST00000675123.1:c.572G>T	ENSP00000502132.1:p.Arg191Leu
ENST00000675548.1:c.*400G>T	ENSP00000502684.1:n.*400G>T
ENST00000675694.1:c.572G>T	ENSP00000501925.1:p.Arg191Leu
ENST00000340850.9:c.572G>T	ENSP00000344570.5:p.Arg191Leu
ENST00000377725.5:c.572G>T	ENSP00000366954.1:p.Arg191Leu
ENST00000377728.7:c.572G>T	ENSP00000366957.3:p.Arg191Leu
ENST00000377732.5:c.683G>T	ENSP00000366961.1:p.Arg228Leu
ENST00000377740.4:c.803G>T	ENSP00000366969.3:p.Arg268Leu
ENST00000377748.5:c.803G>T	ENSP00000366977.1:p.Arg268Leu
ENST00000400913.5:c.572G>T	ENSP00000383704.1:p.Arg191Leu
ENST00000400915.7:c.740G>T	ENSP00000383706.3:p.Arg247Leu
ENST00000489097.5:n.1048G>T
ENST00000535355.5:c.779G>T	ENSP00000441445.1:p.Arg260Leu
ENST00000537245.5:c.809G>T	ENSP00000439625.1:p.Arg270Leu
NM_001042663.1:c.740G>T	NP_001036128.1:p.Arg247Leu
NM_001042664.1:c.572G>T	NP_001036129.1:p.Arg191Leu
NM_001042665.1:c.572G>T	NP_001036130.1:p.Arg191Leu
NM_001265592.1:c.809G>T	NP_001252521.1:p.Arg270Leu
NM_001265593.1:c.779G>T	NP_001252522.1:p.Arg260Leu
NM_001265594.1:c.572G>T	NP_001252523.1:p.Arg191Leu
NM_020631.4:c.572G>T	NP_065682.2:p.Arg191Leu
NM_198681.3:c.803G>T	NP_941374.2:p.Arg268Leu
NM_001042663.2:c.740G>T	NP_001036128.1:p.Arg247Leu
NM_001265594.2:c.572G>T	NP_001252523.1:p.Arg191Leu
NM_020631.5:c.572G>T	NP_065682.2:p.Arg191Leu
NM_001042663.3:c.683G>T	NP_001036128.2:p.Arg228Leu
NM_001265592.2:c.683G>T	NP_001252521.2:p.Arg228Leu
NM_020631.6:c.572G>T MANE Select	NP_065682.2:p.Arg191Leu
NM_198681.4:c.572G>T	NP_941374.3:p.Arg191Leu