Canonical Allele Identifier: CA561866

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 947790
• ClinVar RCV Id: RCV001218926 ; RCV002327514
• dbSNP Id: rs371931309
• ExAC: 1:6534528 T / C
• gnomAD v2: 1-6534528-T-C
• gnomAD v3: 1-6474468-T-C
• gnomAD v4: 1-6474468-T-C
• MyVariant Identifiers: chr1:g.6534528T>C (hg19) ; chr1:g.6474468T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474468T>C , CM000663.2:g.6474468T>C	GRCh38
NC_000001.10:g.6534528T>C , CM000663.1:g.6534528T>C	GRCh37
NC_000001.9:g.6457115T>C	NCBI36
NG_007978.1:g.50542A>G , LRG_262:g.50542A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.422A>G	ENSP00000344570.5:p.His141Arg
ENST00000377728.8:c.422A>G MANE Select	ENSP00000366957.3:p.His141Arg
ENST00000377740.5:c.422A>G	ENSP00000366969.4:p.His141Arg
ENST00000377748.6:c.596A>G	ENSP00000366977.2:p.His199Arg
ENST00000400913.6:c.422A>G	ENSP00000383704.1:p.His141Arg
ENST00000400915.8:c.533A>G	ENSP00000383706.4:p.His178Arg
ENST00000489097.6:n.898A>G
ENST00000535355.6:c.629A>G	ENSP00000441445.1:p.His210Arg
ENST00000537245.6:c.533A>G	ENSP00000439625.2:p.His178Arg
ENST00000673471.2:c.719A>G	ENSP00000500749.1:p.His240Arg
ENST00000674790.1:c.*634A>G	ENSP00000502815.1:n.*634A>G
ENST00000675123.1:c.422A>G	ENSP00000502132.1:p.His141Arg
ENST00000675548.1:c.*250A>G	ENSP00000502684.1:n.*250A>G
ENST00000675694.1:c.422A>G	ENSP00000501925.1:p.His141Arg
ENST00000676255.1:c.384A>G	ENSP00000502459.1:n.384A>G
ENST00000340850.9:c.422A>G	ENSP00000344570.5:p.His141Arg
ENST00000377725.5:c.422A>G	ENSP00000366954.1:p.His141Arg
ENST00000377728.7:c.422A>G	ENSP00000366957.3:p.His141Arg
ENST00000377732.5:c.533A>G	ENSP00000366961.1:p.His178Arg
ENST00000377740.4:c.653A>G	ENSP00000366969.3:p.His218Arg
ENST00000377748.5:c.653A>G	ENSP00000366977.1:p.His218Arg
ENST00000400913.5:c.422A>G	ENSP00000383704.1:p.His141Arg
ENST00000400915.7:c.590A>G	ENSP00000383706.3:p.His197Arg
ENST00000489097.5:n.898A>G
ENST00000535355.5:c.629A>G	ENSP00000441445.1:p.His210Arg
ENST00000537245.5:c.659A>G	ENSP00000439625.1:p.His220Arg
NM_001042663.1:c.590A>G	NP_001036128.1:p.His197Arg
NM_001042664.1:c.422A>G	NP_001036129.1:p.His141Arg
NM_001042665.1:c.422A>G	NP_001036130.1:p.His141Arg
NM_001265592.1:c.659A>G	NP_001252521.1:p.His220Arg
NM_001265593.1:c.629A>G	NP_001252522.1:p.His210Arg
NM_001265594.1:c.422A>G	NP_001252523.1:p.His141Arg
NM_020631.4:c.422A>G	NP_065682.2:p.His141Arg
NM_198681.3:c.653A>G	NP_941374.2:p.His218Arg
NM_001042663.2:c.590A>G	NP_001036128.1:p.His197Arg
NM_001265594.2:c.422A>G	NP_001252523.1:p.His141Arg
NM_020631.5:c.422A>G	NP_065682.2:p.His141Arg
NM_001042663.3:c.533A>G	NP_001036128.2:p.His178Arg
NM_001265592.2:c.533A>G	NP_001252521.2:p.His178Arg
NM_020631.6:c.422A>G MANE Select	NP_065682.2:p.His141Arg
NM_198681.4:c.422A>G	NP_941374.3:p.His141Arg