Canonical Allele Identifier: CA338139408

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6474531-A-G
• MyVariant Identifiers: chr1:g.6534591A>G (hg19) ; chr1:g.6474531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474531A>G , CM000663.2:g.6474531A>G	GRCh38
NC_000001.10:g.6534591A>G , CM000663.1:g.6534591A>G	GRCh37
NC_000001.9:g.6457178A>G	NCBI36
NG_007978.1:g.50479T>C , LRG_262:g.50479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.359T>C	ENSP00000344570.5:p.Ile120Thr
ENST00000377728.8:c.359T>C MANE Select	ENSP00000366957.3:p.Ile120Thr
ENST00000377740.5:c.359T>C	ENSP00000366969.4:p.Ile120Thr
ENST00000377748.6:c.533T>C	ENSP00000366977.2:p.Ile178Thr
ENST00000400913.6:c.359T>C	ENSP00000383704.1:p.Ile120Thr
ENST00000400915.8:c.470T>C	ENSP00000383706.4:p.Ile157Thr
ENST00000489097.6:n.835T>C
ENST00000535355.6:c.566T>C	ENSP00000441445.1:p.Ile189Thr
ENST00000537245.6:c.470T>C	ENSP00000439625.2:p.Ile157Thr
ENST00000673471.2:c.656T>C	ENSP00000500749.1:p.Ile219Thr
ENST00000674790.1:c.*571T>C	ENSP00000502815.1:n.*571T>C
ENST00000675123.1:c.359T>C	ENSP00000502132.1:p.Ile120Thr
ENST00000675548.1:c.*187T>C	ENSP00000502684.1:n.*187T>C
ENST00000675694.1:c.359T>C	ENSP00000501925.1:p.Ile120Thr
ENST00000676255.1:c.321T>C	ENSP00000502459.1:n.321T>C
ENST00000340850.9:c.359T>C	ENSP00000344570.5:p.Ile120Thr
ENST00000377725.5:c.359T>C	ENSP00000366954.1:p.Ile120Thr
ENST00000377728.7:c.359T>C	ENSP00000366957.3:p.Ile120Thr
ENST00000377732.5:c.470T>C	ENSP00000366961.1:p.Ile157Thr
ENST00000377740.4:c.590T>C	ENSP00000366969.3:p.Ile197Thr
ENST00000377748.5:c.590T>C	ENSP00000366977.1:p.Ile197Thr
ENST00000400913.5:c.359T>C	ENSP00000383704.1:p.Ile120Thr
ENST00000400915.7:c.527T>C	ENSP00000383706.3:p.Ile176Thr
ENST00000489097.5:n.835T>C
ENST00000535355.5:c.566T>C	ENSP00000441445.1:p.Ile189Thr
ENST00000537245.5:c.596T>C	ENSP00000439625.1:p.Ile199Thr
NM_001042663.1:c.527T>C	NP_001036128.1:p.Ile176Thr
NM_001042664.1:c.359T>C	NP_001036129.1:p.Ile120Thr
NM_001042665.1:c.359T>C	NP_001036130.1:p.Ile120Thr
NM_001265592.1:c.596T>C	NP_001252521.1:p.Ile199Thr
NM_001265593.1:c.566T>C	NP_001252522.1:p.Ile189Thr
NM_001265594.1:c.359T>C	NP_001252523.1:p.Ile120Thr
NM_020631.4:c.359T>C	NP_065682.2:p.Ile120Thr
NM_198681.3:c.590T>C	NP_941374.2:p.Ile197Thr
NM_001042663.2:c.527T>C	NP_001036128.1:p.Ile176Thr
NM_001265594.2:c.359T>C	NP_001252523.1:p.Ile120Thr
NM_020631.5:c.359T>C	NP_065682.2:p.Ile120Thr
NM_001042663.3:c.470T>C	NP_001036128.2:p.Ile157Thr
NM_001265592.2:c.470T>C	NP_001252521.2:p.Ile157Thr
NM_020631.6:c.359T>C MANE Select	NP_065682.2:p.Ile120Thr
NM_198681.4:c.359T>C	NP_941374.3:p.Ile120Thr