Canonical Allele Identifier: CA338115447

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1204607004
• gnomAD v2: 1-6528237-C-T
• MyVariant Identifiers: chr1:g.6528237C>T (hg19) ; chr1:g.6468177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468177C>T , CM000663.2:g.6468177C>T	GRCh38
NC_000001.10:g.6528237C>T , CM000663.1:g.6528237C>T	GRCh37
NC_000001.9:g.6450824C>T	NCBI36
NG_007978.1:g.56833G>A , LRG_262:g.56833G>A
NG_029910.1:g.3019G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.2659G>A	ENSP00000344570.5:p.Ala887Thr
ENST00000377728.8:c.2659G>A MANE Select	ENSP00000366957.3:p.Ala887Thr
ENST00000377740.5:c.2659G>A	ENSP00000366969.4:p.Ala887Thr
ENST00000377748.6:c.2833G>A	ENSP00000366977.2:p.Ala945Thr
ENST00000400913.6:c.2659G>A	ENSP00000383704.1:p.Ala887Thr
ENST00000400915.8:c.2770G>A	ENSP00000383706.4:p.Ala924Thr
ENST00000489097.6:n.3135G>A
ENST00000535355.6:c.2866G>A	ENSP00000441445.1:p.Ala956Thr
ENST00000537245.6:c.2770G>A	ENSP00000439625.2:p.Ala924Thr
ENST00000673471.2:c.2956G>A	ENSP00000500749.1:p.Ala986Thr
ENST00000674790.1:c.*2871G>A	ENSP00000502815.1:n.*2871G>A
ENST00000675123.1:c.2250-284G>A	ENSP00000502132.1:n.2250-284G>A
ENST00000675548.1:c.*2487G>A	ENSP00000502684.1:n.*2487G>A
ENST00000675694.1:c.2659G>A	ENSP00000501925.1:p.Ala887Thr
ENST00000675976.1:c.532G>A	ENSP00000501611.1:p.Ala178Thr
ENST00000340850.9:c.2659G>A	ENSP00000344570.5:p.Ala887Thr
ENST00000377725.5:c.2659G>A	ENSP00000366954.1:p.Ala887Thr
ENST00000377728.7:c.2659G>A	ENSP00000366957.3:p.Ala887Thr
ENST00000377732.5:c.2770G>A	ENSP00000366961.1:p.Ala924Thr
ENST00000377740.4:c.2481-284G>A	ENSP00000366969.3:n.2481-284G>A
ENST00000377748.5:c.2890G>A	ENSP00000366977.1:p.Ala964Thr
ENST00000400913.5:c.2659G>A	ENSP00000383704.1:p.Ala887Thr
ENST00000400915.7:c.2827G>A	ENSP00000383706.3:p.Ala943Thr
ENST00000487949.4:n.1861G>A
ENST00000489097.5:n.3135G>A
ENST00000535355.5:c.2866G>A	ENSP00000441445.1:p.Ala956Thr
ENST00000537245.5:c.2896G>A	ENSP00000439625.1:p.Ala966Thr
NM_001042663.1:c.2827G>A	NP_001036128.1:p.Ala943Thr
NM_001042664.1:c.2659G>A	NP_001036129.1:p.Ala887Thr
NM_001042665.1:c.2659G>A	NP_001036130.1:p.Ala887Thr
NM_001265592.1:c.2896G>A	NP_001252521.1:p.Ala966Thr
NM_001265593.1:c.2866G>A	NP_001252522.1:p.Ala956Thr
NM_001265594.1:c.2659G>A	NP_001252523.1:p.Ala887Thr
NM_020631.4:c.2659G>A	NP_065682.2:p.Ala887Thr
NM_198681.3:c.2890G>A	NP_941374.2:p.Ala964Thr
NM_001042663.2:c.2827G>A	NP_001036128.1:p.Ala943Thr
NM_001265594.2:c.2659G>A	NP_001252523.1:p.Ala887Thr
NM_020631.5:c.2659G>A	NP_065682.2:p.Ala887Thr
NM_001042663.3:c.2770G>A	NP_001036128.2:p.Ala924Thr
NM_001265592.2:c.2770G>A	NP_001252521.2:p.Ala924Thr
NM_020631.6:c.2659G>A MANE Select	NP_065682.2:p.Ala887Thr
NM_198681.4:c.2659G>A	NP_941374.3:p.Ala887Thr