Canonical Allele Identifier: CA338124373

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 2088683
• ClinVar RCV Id: RCV003011763
• dbSNP Id: rs1644534293
• MyVariant Identifiers: chr1:g.6530578G>C (hg19) ; chr1:g.6470518G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470518G>C , CM000663.2:g.6470518G>C	GRCh38
NC_000001.10:g.6530578G>C , CM000663.1:g.6530578G>C	GRCh37
NC_000001.9:g.6453165G>C	NCBI36
NG_007978.1:g.54492C>G , LRG_262:g.54492C>G
NG_029910.1:g.678C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1668C>G	ENSP00000344570.5:p.Asp556Glu
ENST00000377728.8:c.1668C>G MANE Select	ENSP00000366957.3:p.Asp556Glu
ENST00000377740.5:c.1668C>G	ENSP00000366969.4:p.Asp556Glu
ENST00000377748.6:c.1842C>G	ENSP00000366977.2:p.Asp614Glu
ENST00000400913.6:c.1668C>G	ENSP00000383704.1:p.Asp556Glu
ENST00000400915.8:c.1779C>G	ENSP00000383706.4:p.Asp593Glu
ENST00000489097.6:n.2144C>G
ENST00000535355.6:c.1875C>G	ENSP00000441445.1:p.Asp625Glu
ENST00000537245.6:c.1779C>G	ENSP00000439625.2:p.Asp593Glu
ENST00000673471.2:c.1965C>G	ENSP00000500749.1:p.Asp655Glu
ENST00000674790.1:c.*1880C>G	ENSP00000502815.1:n.*1880C>G
ENST00000674943.1:n.330C>G
ENST00000675123.1:c.1668C>G	ENSP00000502132.1:p.Asp556Glu
ENST00000675548.1:c.*1496C>G	ENSP00000502684.1:n.*1496C>G
ENST00000675694.1:c.1668C>G	ENSP00000501925.1:p.Asp556Glu
ENST00000676401.1:n.215C>G
ENST00000340850.9:c.1668C>G	ENSP00000344570.5:p.Asp556Glu
ENST00000377725.5:c.1668C>G	ENSP00000366954.1:p.Asp556Glu
ENST00000377728.7:c.1668C>G	ENSP00000366957.3:p.Asp556Glu
ENST00000377732.5:c.1779C>G	ENSP00000366961.1:p.Asp593Glu
ENST00000377740.4:c.1899C>G	ENSP00000366969.3:p.Asp633Glu
ENST00000377748.5:c.1899C>G	ENSP00000366977.1:p.Asp633Glu
ENST00000400913.5:c.1668C>G	ENSP00000383704.1:p.Asp556Glu
ENST00000400915.7:c.1836C>G	ENSP00000383706.3:p.Asp612Glu
ENST00000487949.4:n.870C>G
ENST00000489097.5:n.2144C>G
ENST00000535355.5:c.1875C>G	ENSP00000441445.1:p.Asp625Glu
ENST00000537245.5:c.1905C>G	ENSP00000439625.1:p.Asp635Glu
NM_001042663.1:c.1836C>G	NP_001036128.1:p.Asp612Glu
NM_001042664.1:c.1668C>G	NP_001036129.1:p.Asp556Glu
NM_001042665.1:c.1668C>G	NP_001036130.1:p.Asp556Glu
NM_001265592.1:c.1905C>G	NP_001252521.1:p.Asp635Glu
NM_001265593.1:c.1875C>G	NP_001252522.1:p.Asp625Glu
NM_001265594.1:c.1668C>G	NP_001252523.1:p.Asp556Glu
NM_020631.4:c.1668C>G	NP_065682.2:p.Asp556Glu
NM_198681.3:c.1899C>G	NP_941374.2:p.Asp633Glu
NM_001042663.2:c.1836C>G	NP_001036128.1:p.Asp612Glu
NM_001265594.2:c.1668C>G	NP_001252523.1:p.Asp556Glu
NM_020631.5:c.1668C>G	NP_065682.2:p.Asp556Glu
NM_001042663.3:c.1779C>G	NP_001036128.2:p.Asp593Glu
NM_001265592.2:c.1779C>G	NP_001252521.2:p.Asp593Glu
NM_020631.6:c.1668C>G MANE Select	NP_065682.2:p.Asp556Glu
NM_198681.4:c.1668C>G	NP_941374.3:p.Asp556Glu