Canonical Allele Identifier: CA10610649

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 297926
• ClinVar RCV Id: RCV000355377
• dbSNP Id: rs886046494
• gnomAD v4: 1-6467008-A-T
• MyVariant Identifiers: chr1:g.6527068A>T (hg19) ; chr1:g.6467008A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6467008A>T , CM000663.2:g.6467008A>T	GRCh38
NC_000001.10:g.6527068A>T , CM000663.1:g.6527068A>T	GRCh37
NC_000001.9:g.6449655A>T	NCBI36
NG_007978.1:g.58002T>A , LRG_262:g.58002T>A
NG_029910.1:g.4188T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.9:c.*555T>A	ENSP00000344570.5:n.*555T>A
ENST00000377748.5:c.*555T>A	ENSP00000366977.1:n.*555T>A
ENST00000400913.5:c.*555T>A	ENSP00000383704.1:n.*555T>A
ENST00000489097.5:n.4052T>A
ENST00000535355.5:c.*555T>A	ENSP00000441445.1:n.*555T>A
ENST00000537245.5:c.*555T>A	ENSP00000439625.1:n.*555T>A
NM_001042663.1:c.*555T>A	NP_001036128.1:n.*555T>A
NM_001042664.1:c.*555T>A	NP_001036129.1:n.*555T>A
NM_001042665.1:c.*555T>A	NP_001036130.1:n.*555T>A
NM_001265592.1:c.*555T>A	NP_001252521.1:n.*555T>A
NM_001265593.1:c.*555T>A	NP_001252522.1:n.*555T>A
NM_001265594.1:c.*583T>A	NP_001252523.1:n.*583T>A
NM_020631.4:c.*555T>A	NP_065682.2:n.*555T>A
NM_198681.3:c.*555T>A	NP_941374.2:n.*555T>A
NM_001042663.2:c.*555T>A	NP_001036128.1:n.*555T>A
NM_001265594.2:c.*583T>A	NP_001252523.1:n.*583T>A
NM_020631.5:c.*555T>A	NP_065682.2:n.*555T>A