Canonical Allele Identifier: CA338115007

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6468084-C-A
• MyVariant Identifiers: chr1:g.6528144C>A (hg19) ; chr1:g.6468084C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468084C>A , CM000663.2:g.6468084C>A	GRCh38
NC_000001.10:g.6528144C>A , CM000663.1:g.6528144C>A	GRCh37
NC_000001.9:g.6450731C>A	NCBI36
NG_007978.1:g.56926G>T , LRG_262:g.56926G>T
NG_029910.1:g.3112G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2752G>T	ENSP00000344570.5:p.Gly918Cys
ENST00000377728.8:c.2752G>T MANE Select	ENSP00000366957.3:p.Gly918Cys
ENST00000377740.5:c.2752G>T	ENSP00000366969.4:p.Gly918Cys
ENST00000377748.6:c.2926G>T	ENSP00000366977.2:p.Gly976Cys
ENST00000400913.6:c.2752G>T	ENSP00000383704.1:p.Gly918Cys
ENST00000400915.8:c.2863G>T	ENSP00000383706.4:p.Gly955Cys
ENST00000489097.6:n.3228G>T
ENST00000535355.6:c.2959G>T	ENSP00000441445.1:p.Gly987Cys
ENST00000537245.6:c.2863G>T	ENSP00000439625.2:p.Gly955Cys
ENST00000673471.2:c.3049G>T	ENSP00000500749.1:p.Gly1017Cys
ENST00000674790.1:c.*2964G>T	ENSP00000502815.1:n.*2964G>T
ENST00000675123.1:c.2250-191G>T	ENSP00000502132.1:n.2250-191G>T
ENST00000675548.1:c.*2580G>T	ENSP00000502684.1:n.*2580G>T
ENST00000675694.1:c.2752G>T	ENSP00000501925.1:p.Gly918Cys
ENST00000675976.1:c.625G>T	ENSP00000501611.1:p.Gly209Cys
ENST00000340850.9:c.2752G>T	ENSP00000344570.5:p.Gly918Cys
ENST00000377725.5:c.2737+15G>T	ENSP00000366954.1:n.2737+15G>T
ENST00000377728.7:c.2752G>T	ENSP00000366957.3:p.Gly918Cys
ENST00000377732.5:c.2863G>T	ENSP00000366961.1:p.Gly955Cys
ENST00000377740.4:c.2481-191G>T	ENSP00000366969.3:n.2481-191G>T
ENST00000377748.5:c.2983G>T	ENSP00000366977.1:p.Gly995Cys
ENST00000400913.5:c.2752G>T	ENSP00000383704.1:p.Gly918Cys
ENST00000400915.7:c.2920G>T	ENSP00000383706.3:p.Gly974Cys
ENST00000487949.4:n.1954G>T
ENST00000489097.5:n.3228G>T
ENST00000535355.5:c.2959G>T	ENSP00000441445.1:p.Gly987Cys
ENST00000537245.5:c.2989G>T	ENSP00000439625.1:p.Gly997Cys
NM_001042663.1:c.2920G>T	NP_001036128.1:p.Gly974Cys
NM_001042664.1:c.2752G>T	NP_001036129.1:p.Gly918Cys
NM_001042665.1:c.2752G>T	NP_001036130.1:p.Gly918Cys
NM_001265592.1:c.2989G>T	NP_001252521.1:p.Gly997Cys
NM_001265593.1:c.2959G>T	NP_001252522.1:p.Gly987Cys
NM_001265594.1:c.2737+15G>T	NP_001252523.1:n.2737+15G>T
NM_020631.4:c.2752G>T	NP_065682.2:p.Gly918Cys
NM_198681.3:c.2983G>T	NP_941374.2:p.Gly995Cys
NM_001042663.2:c.2920G>T	NP_001036128.1:p.Gly974Cys
NM_001265594.2:c.2737+15G>T	NP_001252523.1:n.2737+15G>T
NM_020631.5:c.2752G>T	NP_065682.2:p.Gly918Cys
NM_001042663.3:c.2863G>T	NP_001036128.2:p.Gly955Cys
NM_001265592.2:c.2863G>T	NP_001252521.2:p.Gly955Cys
NM_020631.6:c.2752G>T MANE Select	NP_065682.2:p.Gly918Cys
NM_198681.4:c.2752G>T	NP_941374.3:p.Gly918Cys