Canonical Allele Identifier: CA17234975

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1054411
• ClinVar RCV Id: RCV001362904 ; RCV002550032
• dbSNP Id: rs910994587
• gnomAD v2: 1-6529224-A-T
• gnomAD v4: 1-6469164-A-T
• MyVariant Identifiers: chr1:g.6529224A>T (hg19) ; chr1:g.6469164A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469164A>T , CM000663.2:g.6469164A>T	GRCh38
NC_000001.10:g.6529224A>T , CM000663.1:g.6529224A>T	GRCh37
NC_000001.9:g.6451811A>T	NCBI36
NG_007978.1:g.55846T>A , LRG_262:g.55846T>A
NG_029910.1:g.2032T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2127T>A	ENSP00000344570.5:p.Asp709Glu
ENST00000377728.8:c.2127T>A MANE Select	ENSP00000366957.3:p.Asp709Glu
ENST00000377740.5:c.2127T>A	ENSP00000366969.4:p.Asp709Glu
ENST00000377748.6:c.2301T>A	ENSP00000366977.2:p.Asp767Glu
ENST00000400913.6:c.2127T>A	ENSP00000383704.1:p.Asp709Glu
ENST00000400915.8:c.2238T>A	ENSP00000383706.4:p.Asp746Glu
ENST00000489097.6:n.2603T>A
ENST00000535355.6:c.2334T>A	ENSP00000441445.1:p.Asp778Glu
ENST00000537245.6:c.2238T>A	ENSP00000439625.2:p.Asp746Glu
ENST00000673471.2:c.2424T>A	ENSP00000500749.1:p.Asp808Glu
ENST00000674790.1:c.*2339T>A	ENSP00000502815.1:n.*2339T>A
ENST00000675123.1:c.2127T>A	ENSP00000502132.1:p.Asp709Glu
ENST00000675139.1:n.198T>A
ENST00000675548.1:c.*1955T>A	ENSP00000502684.1:n.*1955T>A
ENST00000675694.1:c.2127T>A	ENSP00000501925.1:p.Asp709Glu
ENST00000340850.9:c.2127T>A	ENSP00000344570.5:p.Asp709Glu
ENST00000377725.5:c.2127T>A	ENSP00000366954.1:p.Asp709Glu
ENST00000377728.7:c.2127T>A	ENSP00000366957.3:p.Asp709Glu
ENST00000377732.5:c.2238T>A	ENSP00000366961.1:p.Asp746Glu
ENST00000377740.4:c.2358T>A	ENSP00000366969.3:p.Asp786Glu
ENST00000377748.5:c.2358T>A	ENSP00000366977.1:p.Asp786Glu
ENST00000400913.5:c.2127T>A	ENSP00000383704.1:p.Asp709Glu
ENST00000400915.7:c.2295T>A	ENSP00000383706.3:p.Asp765Glu
ENST00000487949.4:n.1329T>A
ENST00000489097.5:n.2603T>A
ENST00000535355.5:c.2334T>A	ENSP00000441445.1:p.Asp778Glu
ENST00000537245.5:c.2364T>A	ENSP00000439625.1:p.Asp788Glu
NM_001042663.1:c.2295T>A	NP_001036128.1:p.Asp765Glu
NM_001042664.1:c.2127T>A	NP_001036129.1:p.Asp709Glu
NM_001042665.1:c.2127T>A	NP_001036130.1:p.Asp709Glu
NM_001265592.1:c.2364T>A	NP_001252521.1:p.Asp788Glu
NM_001265593.1:c.2334T>A	NP_001252522.1:p.Asp778Glu
NM_001265594.1:c.2127T>A	NP_001252523.1:p.Asp709Glu
NM_020631.4:c.2127T>A	NP_065682.2:p.Asp709Glu
NM_198681.3:c.2358T>A	NP_941374.2:p.Asp786Glu
NM_001042663.2:c.2295T>A	NP_001036128.1:p.Asp765Glu
NM_001265594.2:c.2127T>A	NP_001252523.1:p.Asp709Glu
NM_020631.5:c.2127T>A	NP_065682.2:p.Asp709Glu
NM_001042663.3:c.2238T>A	NP_001036128.2:p.Asp746Glu
NM_001265592.2:c.2238T>A	NP_001252521.2:p.Asp746Glu
NM_020631.6:c.2127T>A MANE Select	NP_065682.2:p.Asp709Glu
NM_198681.4:c.2127T>A	NP_941374.3:p.Asp709Glu