Canonical Allele Identifier: CA338114516

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs879254222
• gnomAD v2: 1-6528048-C-T
• gnomAD v4: 1-6467988-C-T
• MyVariant Identifiers: chr1:g.6528048C>T (hg19) ; chr1:g.6467988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6467988C>T , CM000663.2:g.6467988C>T	GRCh38
NC_000001.10:g.6528048C>T , CM000663.1:g.6528048C>T	GRCh37
NC_000001.9:g.6450635C>T	NCBI36
NG_007978.1:g.57022G>A , LRG_262:g.57022G>A
NG_029910.1:g.3208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2848G>A	ENSP00000344570.5:p.Ala950Thr
ENST00000377728.8:c.2848G>A MANE Select	ENSP00000366957.3:p.Ala950Thr
ENST00000377740.5:c.2848G>A	ENSP00000366969.4:p.Ala950Thr
ENST00000377748.6:c.3022G>A	ENSP00000366977.2:p.Ala1008Thr
ENST00000400913.6:c.2848G>A	ENSP00000383704.1:p.Ala950Thr
ENST00000400915.8:c.2959G>A	ENSP00000383706.4:p.Ala987Thr
ENST00000489097.6:n.3324G>A
ENST00000535355.6:c.3055G>A	ENSP00000441445.1:p.Ala1019Thr
ENST00000537245.6:c.2959G>A	ENSP00000439625.2:p.Ala987Thr
ENST00000673471.2:c.3145G>A	ENSP00000500749.1:p.Ala1049Thr
ENST00000674790.1:c.*3060G>A	ENSP00000502815.1:n.*3060G>A
ENST00000675123.1:c.2250-95G>A	ENSP00000502132.1:n.2250-95G>A
ENST00000675548.1:c.*2676G>A	ENSP00000502684.1:n.*2676G>A
ENST00000675694.1:c.2848G>A	ENSP00000501925.1:p.Ala950Thr
ENST00000675976.1:c.721G>A	ENSP00000501611.1:p.Ala241Thr
ENST00000340850.9:c.2848G>A	ENSP00000344570.5:p.Ala950Thr
ENST00000377725.5:c.2738-90G>A	ENSP00000366954.1:n.2738-90G>A
ENST00000377728.7:c.2848G>A	ENSP00000366957.3:p.Ala950Thr
ENST00000377732.5:c.2959G>A	ENSP00000366961.1:p.Ala987Thr
ENST00000377740.4:c.2481-95G>A	ENSP00000366969.3:n.2481-95G>A
ENST00000377748.5:c.3079G>A	ENSP00000366977.1:p.Ala1027Thr
ENST00000400913.5:c.2848G>A	ENSP00000383704.1:p.Ala950Thr
ENST00000400915.7:c.3016G>A	ENSP00000383706.3:p.Ala1006Thr
ENST00000487949.4:n.2050G>A
ENST00000489097.5:n.3324G>A
ENST00000535355.5:c.3055G>A	ENSP00000441445.1:p.Ala1019Thr
ENST00000537245.5:c.3085G>A	ENSP00000439625.1:p.Ala1029Thr
NM_001042663.1:c.3016G>A	NP_001036128.1:p.Ala1006Thr
NM_001042664.1:c.2848G>A	NP_001036129.1:p.Ala950Thr
NM_001042665.1:c.2848G>A	NP_001036130.1:p.Ala950Thr
NM_001265592.1:c.3085G>A	NP_001252521.1:p.Ala1029Thr
NM_001265593.1:c.3055G>A	NP_001252522.1:p.Ala1019Thr
NM_001265594.1:c.2738-90G>A	NP_001252523.1:n.2738-90G>A
NM_020631.4:c.2848G>A	NP_065682.2:p.Ala950Thr
NM_198681.3:c.3079G>A	NP_941374.2:p.Ala1027Thr
NM_001042663.2:c.3016G>A	NP_001036128.1:p.Ala1006Thr
NM_001265594.2:c.2738-90G>A	NP_001252523.1:n.2738-90G>A
NM_020631.5:c.2848G>A	NP_065682.2:p.Ala950Thr
NM_001042663.3:c.2959G>A	NP_001036128.2:p.Ala987Thr
NM_001265592.2:c.2959G>A	NP_001252521.2:p.Ala987Thr
NM_020631.6:c.2848G>A MANE Select	NP_065682.2:p.Ala950Thr
NM_198681.4:c.2848G>A	NP_941374.3:p.Ala950Thr