Canonical Allele Identifier: CA17233853

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1017738220
• gnomAD v2: 1-6528344-G-C
• gnomAD v4: 1-6468284-G-C
• MyVariant Identifiers: chr1:g.6528344G>C (hg19) ; chr1:g.6468284G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468284G>C , CM000663.2:g.6468284G>C	GRCh38
NC_000001.10:g.6528344G>C , CM000663.1:g.6528344G>C	GRCh37
NC_000001.9:g.6450931G>C	NCBI36
NG_007978.1:g.56726C>G , LRG_262:g.56726C>G
NG_029910.1:g.2912C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.2552C>G	ENSP00000344570.5:p.Ser851Cys
ENST00000377728.8:c.2552C>G MANE Select	ENSP00000366957.3:p.Ser851Cys
ENST00000377740.5:c.2552C>G	ENSP00000366969.4:p.Ser851Cys
ENST00000377748.6:c.2726C>G	ENSP00000366977.2:p.Ser909Cys
ENST00000400913.6:c.2552C>G	ENSP00000383704.1:p.Ser851Cys
ENST00000400915.8:c.2663C>G	ENSP00000383706.4:p.Ser888Cys
ENST00000489097.6:n.3028C>G
ENST00000535355.6:c.2759C>G	ENSP00000441445.1:p.Ser920Cys
ENST00000537245.6:c.2663C>G	ENSP00000439625.2:p.Ser888Cys
ENST00000673471.2:c.2849C>G	ENSP00000500749.1:p.Ser950Cys
ENST00000674790.1:c.*2764C>G	ENSP00000502815.1:n.*2764C>G
ENST00000675123.1:c.2250-391C>G	ENSP00000502132.1:n.2250-391C>G
ENST00000675548.1:c.*2380C>G	ENSP00000502684.1:n.*2380C>G
ENST00000675694.1:c.2552C>G	ENSP00000501925.1:p.Ser851Cys
ENST00000675976.1:c.425C>G	ENSP00000501611.1:p.Ser142Cys
ENST00000340850.9:c.2552C>G	ENSP00000344570.5:p.Ser851Cys
ENST00000377725.5:c.2552C>G	ENSP00000366954.1:p.Ser851Cys
ENST00000377728.7:c.2552C>G	ENSP00000366957.3:p.Ser851Cys
ENST00000377732.5:c.2663C>G	ENSP00000366961.1:p.Ser888Cys
ENST00000377740.4:c.2481-391C>G	ENSP00000366969.3:n.2481-391C>G
ENST00000377748.5:c.2783C>G	ENSP00000366977.1:p.Ser928Cys
ENST00000400913.5:c.2552C>G	ENSP00000383704.1:p.Ser851Cys
ENST00000400915.7:c.2720C>G	ENSP00000383706.3:p.Ser907Cys
ENST00000487949.4:n.1754C>G
ENST00000489097.5:n.3028C>G
ENST00000535355.5:c.2759C>G	ENSP00000441445.1:p.Ser920Cys
ENST00000537245.5:c.2789C>G	ENSP00000439625.1:p.Ser930Cys
NM_001042663.1:c.2720C>G	NP_001036128.1:p.Ser907Cys
NM_001042664.1:c.2552C>G	NP_001036129.1:p.Ser851Cys
NM_001042665.1:c.2552C>G	NP_001036130.1:p.Ser851Cys
NM_001265592.1:c.2789C>G	NP_001252521.1:p.Ser930Cys
NM_001265593.1:c.2759C>G	NP_001252522.1:p.Ser920Cys
NM_001265594.1:c.2552C>G	NP_001252523.1:p.Ser851Cys
NM_020631.4:c.2552C>G	NP_065682.2:p.Ser851Cys
NM_198681.3:c.2783C>G	NP_941374.2:p.Ser928Cys
NM_001042663.2:c.2720C>G	NP_001036128.1:p.Ser907Cys
NM_001265594.2:c.2552C>G	NP_001252523.1:p.Ser851Cys
NM_020631.5:c.2552C>G	NP_065682.2:p.Ser851Cys
NM_001042663.3:c.2663C>G	NP_001036128.2:p.Ser888Cys
NM_001265592.2:c.2663C>G	NP_001252521.2:p.Ser888Cys
NM_020631.6:c.2552C>G MANE Select	NP_065682.2:p.Ser851Cys
NM_198681.4:c.2552C>G	NP_941374.3:p.Ser851Cys