Canonical Allele Identifier: CA338133526

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1375887
• ClinVar RCV Id: RCV001885607
• dbSNP Id: rs1275790736
• gnomAD v4: 1-6473003-G-T
• MyVariant Identifiers: chr1:g.6533063G>T (hg19) ; chr1:g.6473003G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6473003G>T , CM000663.2:g.6473003G>T	GRCh38
NC_000001.10:g.6533063G>T , CM000663.1:g.6533063G>T	GRCh37
NC_000001.9:g.6455650G>T	NCBI36
NG_007978.1:g.52007C>A , LRG_262:g.52007C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.967C>A	ENSP00000344570.5:p.Leu323Ile
ENST00000377728.8:c.967C>A MANE Select	ENSP00000366957.3:p.Leu323Ile
ENST00000377740.5:c.967C>A	ENSP00000366969.4:p.Leu323Ile
ENST00000377748.6:c.1141C>A	ENSP00000366977.2:p.Leu381Ile
ENST00000400913.6:c.967C>A	ENSP00000383704.1:p.Leu323Ile
ENST00000400915.8:c.1078C>A	ENSP00000383706.4:p.Leu360Ile
ENST00000489097.6:n.1443C>A
ENST00000535355.6:c.1174C>A	ENSP00000441445.1:p.Leu392Ile
ENST00000537245.6:c.1078C>A	ENSP00000439625.2:p.Leu360Ile
ENST00000673471.2:c.1264C>A	ENSP00000500749.1:p.Leu422Ile
ENST00000674790.1:c.*1179C>A	ENSP00000502815.1:n.*1179C>A
ENST00000675123.1:c.967C>A	ENSP00000502132.1:p.Leu323Ile
ENST00000675548.1:c.*795C>A	ENSP00000502684.1:n.*795C>A
ENST00000675694.1:c.967C>A	ENSP00000501925.1:p.Leu323Ile
ENST00000340850.9:c.967C>A	ENSP00000344570.5:p.Leu323Ile
ENST00000377725.5:c.967C>A	ENSP00000366954.1:p.Leu323Ile
ENST00000377728.7:c.967C>A	ENSP00000366957.3:p.Leu323Ile
ENST00000377732.5:c.1078C>A	ENSP00000366961.1:p.Leu360Ile
ENST00000377740.4:c.1198C>A	ENSP00000366969.3:p.Leu400Ile
ENST00000377748.5:c.1198C>A	ENSP00000366977.1:p.Leu400Ile
ENST00000400913.5:c.967C>A	ENSP00000383704.1:p.Leu323Ile
ENST00000400915.7:c.1135C>A	ENSP00000383706.3:p.Leu379Ile
ENST00000489097.5:n.1443C>A
ENST00000535355.5:c.1174C>A	ENSP00000441445.1:p.Leu392Ile
ENST00000537245.5:c.1204C>A	ENSP00000439625.1:p.Leu402Ile
NM_001042663.1:c.1135C>A	NP_001036128.1:p.Leu379Ile
NM_001042664.1:c.967C>A	NP_001036129.1:p.Leu323Ile
NM_001042665.1:c.967C>A	NP_001036130.1:p.Leu323Ile
NM_001265592.1:c.1204C>A	NP_001252521.1:p.Leu402Ile
NM_001265593.1:c.1174C>A	NP_001252522.1:p.Leu392Ile
NM_001265594.1:c.967C>A	NP_001252523.1:p.Leu323Ile
NM_020631.4:c.967C>A	NP_065682.2:p.Leu323Ile
NM_198681.3:c.1198C>A	NP_941374.2:p.Leu400Ile
NM_001042663.2:c.1135C>A	NP_001036128.1:p.Leu379Ile
NM_001265594.2:c.967C>A	NP_001252523.1:p.Leu323Ile
NM_020631.5:c.967C>A	NP_065682.2:p.Leu323Ile
NM_001042663.3:c.1078C>A	NP_001036128.2:p.Leu360Ile
NM_001265592.2:c.1078C>A	NP_001252521.2:p.Leu360Ile
NM_020631.6:c.967C>A MANE Select	NP_065682.2:p.Leu323Ile
NM_198681.4:c.967C>A	NP_941374.3:p.Leu323Ile