Canonical Allele Identifier: CA561176

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs781691343
• ExAC: 1:6528541 A / T
• gnomAD v2: 1-6528541-A-T
• gnomAD v4: 1-6468481-A-T
• MyVariant Identifiers: chr1:g.6528541A>T (hg19) ; chr1:g.6468481A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468481A>T , CM000663.2:g.6468481A>T	GRCh38
NC_000001.10:g.6528541A>T , CM000663.1:g.6528541A>T	GRCh37
NC_000001.9:g.6451128A>T	NCBI36
NG_007978.1:g.56529T>A , LRG_262:g.56529T>A
NG_029910.1:g.2715T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2355T>A	ENSP00000344570.5:p.Asp785Glu
ENST00000377728.8:c.2355T>A MANE Select	ENSP00000366957.3:p.Asp785Glu
ENST00000377740.5:c.2355T>A	ENSP00000366969.4:p.Asp785Glu
ENST00000377748.6:c.2529T>A	ENSP00000366977.2:p.Asp843Glu
ENST00000400913.6:c.2355T>A	ENSP00000383704.1:p.Asp785Glu
ENST00000400915.8:c.2466T>A	ENSP00000383706.4:p.Asp822Glu
ENST00000489097.6:n.2831T>A
ENST00000535355.6:c.2562T>A	ENSP00000441445.1:p.Asp854Glu
ENST00000537245.6:c.2466T>A	ENSP00000439625.2:p.Asp822Glu
ENST00000673471.2:c.2652T>A	ENSP00000500749.1:p.Asp884Glu
ENST00000674790.1:c.*2567T>A	ENSP00000502815.1:n.*2567T>A
ENST00000675123.1:c.2249+561T>A	ENSP00000502132.1:n.2249+561T>A
ENST00000675548.1:c.*2183T>A	ENSP00000502684.1:n.*2183T>A
ENST00000675694.1:c.2355T>A	ENSP00000501925.1:p.Asp785Glu
ENST00000675976.1:c.228T>A	ENSP00000501611.1:p.Asp76Glu
ENST00000340850.9:c.2355T>A	ENSP00000344570.5:p.Asp785Glu
ENST00000377725.5:c.2355T>A	ENSP00000366954.1:p.Asp785Glu
ENST00000377728.7:c.2355T>A	ENSP00000366957.3:p.Asp785Glu
ENST00000377732.5:c.2466T>A	ENSP00000366961.1:p.Asp822Glu
ENST00000377740.4:c.2480+561T>A	ENSP00000366969.3:n.2480+561T>A
ENST00000377748.5:c.2586T>A	ENSP00000366977.1:p.Asp862Glu
ENST00000400913.5:c.2355T>A	ENSP00000383704.1:p.Asp785Glu
ENST00000400915.7:c.2523T>A	ENSP00000383706.3:p.Asp841Glu
ENST00000487949.4:n.1557T>A
ENST00000489097.5:n.2831T>A
ENST00000535355.5:c.2562T>A	ENSP00000441445.1:p.Asp854Glu
ENST00000537245.5:c.2592T>A	ENSP00000439625.1:p.Asp864Glu
NM_001042663.1:c.2523T>A	NP_001036128.1:p.Asp841Glu
NM_001042664.1:c.2355T>A	NP_001036129.1:p.Asp785Glu
NM_001042665.1:c.2355T>A	NP_001036130.1:p.Asp785Glu
NM_001265592.1:c.2592T>A	NP_001252521.1:p.Asp864Glu
NM_001265593.1:c.2562T>A	NP_001252522.1:p.Asp854Glu
NM_001265594.1:c.2355T>A	NP_001252523.1:p.Asp785Glu
NM_020631.4:c.2355T>A	NP_065682.2:p.Asp785Glu
NM_198681.3:c.2586T>A	NP_941374.2:p.Asp862Glu
NM_001042663.2:c.2523T>A	NP_001036128.1:p.Asp841Glu
NM_001265594.2:c.2355T>A	NP_001252523.1:p.Asp785Glu
NM_020631.5:c.2355T>A	NP_065682.2:p.Asp785Glu
NM_001042663.3:c.2466T>A	NP_001036128.2:p.Asp822Glu
NM_001265592.2:c.2466T>A	NP_001252521.2:p.Asp822Glu
NM_020631.6:c.2355T>A MANE Select	NP_065682.2:p.Asp785Glu
NM_198681.4:c.2355T>A	NP_941374.3:p.Asp785Glu