Canonical Allele Identifier: CA416022791

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1266871358
• gnomAD v2: 1-6529431-C-T
• gnomAD v3: 1-6469371-C-T
• gnomAD v4: 1-6469371-C-T
• COSMIC: COSM5053640 ; COSM5053641 ; COSM5053642
• MyVariant Identifiers: chr1:g.6529431C>T (hg19) ; chr1:g.6469371C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469371C>T , CM000663.2:g.6469371C>T	GRCh38
NC_000001.10:g.6529431C>T , CM000663.1:g.6529431C>T	GRCh37
NC_000001.9:g.6452018C>T	NCBI36
NG_007978.1:g.55639G>A , LRG_262:g.55639G>A
NG_029910.1:g.1825G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.2013G>A	ENSP00000344570.5:p.Leu671=
ENST00000377728.8:c.2013G>A MANE Select	ENSP00000366957.3:p.Leu671=
ENST00000377740.5:c.2013G>A	ENSP00000366969.4:p.Leu671=
ENST00000377748.6:c.2187G>A	ENSP00000366977.2:p.Leu729=
ENST00000400913.6:c.2013G>A	ENSP00000383704.1:p.Leu671=
ENST00000400915.8:c.2124G>A	ENSP00000383706.4:p.Leu708=
ENST00000489097.6:n.2489G>A
ENST00000535355.6:c.2220G>A	ENSP00000441445.1:p.Leu740=
ENST00000537245.6:c.2124G>A	ENSP00000439625.2:p.Leu708=
ENST00000673471.2:c.2310G>A	ENSP00000500749.1:p.Leu770=
ENST00000674790.1:c.*2225G>A	ENSP00000502815.1:n.*2225G>A
ENST00000675123.1:c.2013G>A	ENSP00000502132.1:p.Leu671=
ENST00000675139.1:n.84G>A
ENST00000675548.1:c.*1841G>A	ENSP00000502684.1:n.*1841G>A
ENST00000675694.1:c.2013G>A	ENSP00000501925.1:p.Leu671=
ENST00000676401.1:n.560G>A
ENST00000340850.9:c.2013G>A	ENSP00000344570.5:p.Leu671=
ENST00000377725.5:c.2013G>A	ENSP00000366954.1:p.Leu671=
ENST00000377728.7:c.2013G>A	ENSP00000366957.3:p.Leu671=
ENST00000377732.5:c.2124G>A	ENSP00000366961.1:p.Leu708=
ENST00000377740.4:c.2244G>A	ENSP00000366969.3:p.Leu748=
ENST00000377748.5:c.2244G>A	ENSP00000366977.1:p.Leu748=
ENST00000400913.5:c.2013G>A	ENSP00000383704.1:p.Leu671=
ENST00000400915.7:c.2181G>A	ENSP00000383706.3:p.Leu727=
ENST00000487949.4:n.1215G>A
ENST00000489097.5:n.2489G>A
ENST00000535355.5:c.2220G>A	ENSP00000441445.1:p.Leu740=
ENST00000537245.5:c.2250G>A	ENSP00000439625.1:p.Leu750=
NM_001042663.1:c.2181G>A	NP_001036128.1:p.Leu727=
NM_001042664.1:c.2013G>A	NP_001036129.1:p.Leu671=
NM_001042665.1:c.2013G>A	NP_001036130.1:p.Leu671=
NM_001265592.1:c.2250G>A	NP_001252521.1:p.Leu750=
NM_001265593.1:c.2220G>A	NP_001252522.1:p.Leu740=
NM_001265594.1:c.2013G>A	NP_001252523.1:p.Leu671=
NM_020631.4:c.2013G>A	NP_065682.2:p.Leu671=
NM_198681.3:c.2244G>A	NP_941374.2:p.Leu748=
NM_001042663.2:c.2181G>A	NP_001036128.1:p.Leu727=
NM_001265594.2:c.2013G>A	NP_001252523.1:p.Leu671=
NM_020631.5:c.2013G>A	NP_065682.2:p.Leu671=
NM_001042663.3:c.2124G>A	NP_001036128.2:p.Leu708=
NM_001265592.2:c.2124G>A	NP_001252521.2:p.Leu708=
NM_020631.6:c.2013G>A MANE Select	NP_065682.2:p.Leu671=
NM_198681.4:c.2013G>A	NP_941374.3:p.Leu671=