Canonical Allele Identifier: CA338117812

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6468546-C-A
• MyVariant Identifiers: chr1:g.6528606C>A (hg19) ; chr1:g.6468546C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468546C>A , CM000663.2:g.6468546C>A	GRCh38
NC_000001.10:g.6528606C>A , CM000663.1:g.6528606C>A	GRCh37
NC_000001.9:g.6451193C>A	NCBI36
NG_007978.1:g.56464G>T , LRG_262:g.56464G>T
NG_029910.1:g.2650G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2290G>T	ENSP00000344570.5:p.Val764Leu
ENST00000377728.8:c.2290G>T MANE Select	ENSP00000366957.3:p.Val764Leu
ENST00000377740.5:c.2290G>T	ENSP00000366969.4:p.Val764Leu
ENST00000377748.6:c.2464G>T	ENSP00000366977.2:p.Val822Leu
ENST00000400913.6:c.2290G>T	ENSP00000383704.1:p.Val764Leu
ENST00000400915.8:c.2401G>T	ENSP00000383706.4:p.Val801Leu
ENST00000489097.6:n.2766G>T
ENST00000535355.6:c.2497G>T	ENSP00000441445.1:p.Val833Leu
ENST00000537245.6:c.2401G>T	ENSP00000439625.2:p.Val801Leu
ENST00000673471.2:c.2587G>T	ENSP00000500749.1:p.Val863Leu
ENST00000674790.1:c.*2502G>T	ENSP00000502815.1:n.*2502G>T
ENST00000675123.1:c.2249+496G>T	ENSP00000502132.1:n.2249+496G>T
ENST00000675548.1:c.*2118G>T	ENSP00000502684.1:n.*2118G>T
ENST00000675694.1:c.2290G>T	ENSP00000501925.1:p.Val764Leu
ENST00000675976.1:c.163G>T	ENSP00000501611.1:p.Val55Leu
ENST00000340850.9:c.2290G>T	ENSP00000344570.5:p.Val764Leu
ENST00000377725.5:c.2290G>T	ENSP00000366954.1:p.Val764Leu
ENST00000377728.7:c.2290G>T	ENSP00000366957.3:p.Val764Leu
ENST00000377732.5:c.2401G>T	ENSP00000366961.1:p.Val801Leu
ENST00000377740.4:c.2480+496G>T	ENSP00000366969.3:n.2480+496G>T
ENST00000377748.5:c.2521G>T	ENSP00000366977.1:p.Val841Leu
ENST00000400913.5:c.2290G>T	ENSP00000383704.1:p.Val764Leu
ENST00000400915.7:c.2458G>T	ENSP00000383706.3:p.Val820Leu
ENST00000487949.4:n.1492G>T
ENST00000489097.5:n.2766G>T
ENST00000535355.5:c.2497G>T	ENSP00000441445.1:p.Val833Leu
ENST00000537245.5:c.2527G>T	ENSP00000439625.1:p.Val843Leu
NM_001042663.1:c.2458G>T	NP_001036128.1:p.Val820Leu
NM_001042664.1:c.2290G>T	NP_001036129.1:p.Val764Leu
NM_001042665.1:c.2290G>T	NP_001036130.1:p.Val764Leu
NM_001265592.1:c.2527G>T	NP_001252521.1:p.Val843Leu
NM_001265593.1:c.2497G>T	NP_001252522.1:p.Val833Leu
NM_001265594.1:c.2290G>T	NP_001252523.1:p.Val764Leu
NM_020631.4:c.2290G>T	NP_065682.2:p.Val764Leu
NM_198681.3:c.2521G>T	NP_941374.2:p.Val841Leu
NM_001042663.2:c.2458G>T	NP_001036128.1:p.Val820Leu
NM_001265594.2:c.2290G>T	NP_001252523.1:p.Val764Leu
NM_020631.5:c.2290G>T	NP_065682.2:p.Val764Leu
NM_001042663.3:c.2401G>T	NP_001036128.2:p.Val801Leu
NM_001265592.2:c.2401G>T	NP_001252521.2:p.Val801Leu
NM_020631.6:c.2290G>T MANE Select	NP_065682.2:p.Val764Leu
NM_198681.4:c.2290G>T	NP_941374.3:p.Val764Leu