Canonical Allele Identifier: CA561870

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 962105
• ClinVar RCV Id: RCV001235905 ; RCV001329767 ; RCV002322128
• dbSNP Id: rs762546636
• ExAC: 1:6534539 C / A
• gnomAD v2: 1-6534539-C-A
• gnomAD v3: 1-6474479-C-A
• gnomAD v4: 1-6474479-C-A
• MyVariant Identifiers: chr1:g.6534539C>A (hg19) ; chr1:g.6474479C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474479C>A , CM000663.2:g.6474479C>A	GRCh38
NC_000001.10:g.6534539C>A , CM000663.1:g.6534539C>A	GRCh37
NC_000001.9:g.6457126C>A	NCBI36
NG_007978.1:g.50531G>T , LRG_262:g.50531G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.411G>T	ENSP00000344570.5:p.Arg137Ser
ENST00000377728.8:c.411G>T MANE Select	ENSP00000366957.3:p.Arg137Ser
ENST00000377740.5:c.411G>T	ENSP00000366969.4:p.Arg137Ser
ENST00000377748.6:c.585G>T	ENSP00000366977.2:p.Arg195Ser
ENST00000400913.6:c.411G>T	ENSP00000383704.1:p.Arg137Ser
ENST00000400915.8:c.522G>T	ENSP00000383706.4:p.Arg174Ser
ENST00000489097.6:n.887G>T
ENST00000535355.6:c.618G>T	ENSP00000441445.1:p.Arg206Ser
ENST00000537245.6:c.522G>T	ENSP00000439625.2:p.Arg174Ser
ENST00000673471.2:c.708G>T	ENSP00000500749.1:p.Arg236Ser
ENST00000674790.1:c.*623G>T	ENSP00000502815.1:n.*623G>T
ENST00000675123.1:c.411G>T	ENSP00000502132.1:p.Arg137Ser
ENST00000675548.1:c.*239G>T	ENSP00000502684.1:n.*239G>T
ENST00000675694.1:c.411G>T	ENSP00000501925.1:p.Arg137Ser
ENST00000676255.1:c.373G>T	ENSP00000502459.1:n.373G>T
ENST00000340850.9:c.411G>T	ENSP00000344570.5:p.Arg137Ser
ENST00000377725.5:c.411G>T	ENSP00000366954.1:p.Arg137Ser
ENST00000377728.7:c.411G>T	ENSP00000366957.3:p.Arg137Ser
ENST00000377732.5:c.522G>T	ENSP00000366961.1:p.Arg174Ser
ENST00000377740.4:c.642G>T	ENSP00000366969.3:p.Arg214Ser
ENST00000377748.5:c.642G>T	ENSP00000366977.1:p.Arg214Ser
ENST00000400913.5:c.411G>T	ENSP00000383704.1:p.Arg137Ser
ENST00000400915.7:c.579G>T	ENSP00000383706.3:p.Arg193Ser
ENST00000489097.5:n.887G>T
ENST00000535355.5:c.618G>T	ENSP00000441445.1:p.Arg206Ser
ENST00000537245.5:c.648G>T	ENSP00000439625.1:p.Arg216Ser
NM_001042663.1:c.579G>T	NP_001036128.1:p.Arg193Ser
NM_001042664.1:c.411G>T	NP_001036129.1:p.Arg137Ser
NM_001042665.1:c.411G>T	NP_001036130.1:p.Arg137Ser
NM_001265592.1:c.648G>T	NP_001252521.1:p.Arg216Ser
NM_001265593.1:c.618G>T	NP_001252522.1:p.Arg206Ser
NM_001265594.1:c.411G>T	NP_001252523.1:p.Arg137Ser
NM_020631.4:c.411G>T	NP_065682.2:p.Arg137Ser
NM_198681.3:c.642G>T	NP_941374.2:p.Arg214Ser
NM_001042663.2:c.579G>T	NP_001036128.1:p.Arg193Ser
NM_001265594.2:c.411G>T	NP_001252523.1:p.Arg137Ser
NM_020631.5:c.411G>T	NP_065682.2:p.Arg137Ser
NM_001042663.3:c.522G>T	NP_001036128.2:p.Arg174Ser
NM_001265592.2:c.522G>T	NP_001252521.2:p.Arg174Ser
NM_020631.6:c.411G>T MANE Select	NP_065682.2:p.Arg137Ser
NM_198681.4:c.411G>T	NP_941374.3:p.Arg137Ser