Canonical Allele Identifier: CA338127123

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 2947561
• ClinVar RCV Id: RCV003804191
• dbSNP Id: rs1644551777
• gnomAD v4: 1-6470865-T-C
• MyVariant Identifiers: chr1:g.6530925T>C (hg19) ; chr1:g.6470865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470865T>C , CM000663.2:g.6470865T>C	GRCh38
NC_000001.10:g.6530925T>C , CM000663.1:g.6530925T>C	GRCh37
NC_000001.9:g.6453512T>C	NCBI36
NG_007978.1:g.54145A>G , LRG_262:g.54145A>G
NG_029910.1:g.331A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1412A>G	ENSP00000344570.5:p.Gln471Arg
ENST00000377728.8:c.1412A>G MANE Select	ENSP00000366957.3:p.Gln471Arg
ENST00000377740.5:c.1412A>G	ENSP00000366969.4:p.Gln471Arg
ENST00000377748.6:c.1586A>G	ENSP00000366977.2:p.Gln529Arg
ENST00000400913.6:c.1412A>G	ENSP00000383704.1:p.Gln471Arg
ENST00000400915.8:c.1523A>G	ENSP00000383706.4:p.Gln508Arg
ENST00000489097.6:n.1888A>G
ENST00000535355.6:c.1619A>G	ENSP00000441445.1:p.Gln540Arg
ENST00000537245.6:c.1523A>G	ENSP00000439625.2:p.Gln508Arg
ENST00000673471.2:c.1709A>G	ENSP00000500749.1:p.Gln570Arg
ENST00000674685.1:n.445A>G
ENST00000674790.1:c.*1624A>G	ENSP00000502815.1:n.*1624A>G
ENST00000674943.1:n.74A>G
ENST00000675123.1:c.1412A>G	ENSP00000502132.1:p.Gln471Arg
ENST00000675548.1:c.*1240A>G	ENSP00000502684.1:n.*1240A>G
ENST00000675694.1:c.1412A>G	ENSP00000501925.1:p.Gln471Arg
ENST00000340850.9:c.1412A>G	ENSP00000344570.5:p.Gln471Arg
ENST00000377725.5:c.1412A>G	ENSP00000366954.1:p.Gln471Arg
ENST00000377728.7:c.1412A>G	ENSP00000366957.3:p.Gln471Arg
ENST00000377732.5:c.1523A>G	ENSP00000366961.1:p.Gln508Arg
ENST00000377740.4:c.1643A>G	ENSP00000366969.3:p.Gln548Arg
ENST00000377748.5:c.1643A>G	ENSP00000366977.1:p.Gln548Arg
ENST00000400913.5:c.1412A>G	ENSP00000383704.1:p.Gln471Arg
ENST00000400915.7:c.1580A>G	ENSP00000383706.3:p.Gln527Arg
ENST00000487949.4:n.614A>G
ENST00000489097.5:n.1888A>G
ENST00000535355.5:c.1619A>G	ENSP00000441445.1:p.Gln540Arg
ENST00000537245.5:c.1649A>G	ENSP00000439625.1:p.Gln550Arg
NM_001042663.1:c.1580A>G	NP_001036128.1:p.Gln527Arg
NM_001042664.1:c.1412A>G	NP_001036129.1:p.Gln471Arg
NM_001042665.1:c.1412A>G	NP_001036130.1:p.Gln471Arg
NM_001265592.1:c.1649A>G	NP_001252521.1:p.Gln550Arg
NM_001265593.1:c.1619A>G	NP_001252522.1:p.Gln540Arg
NM_001265594.1:c.1412A>G	NP_001252523.1:p.Gln471Arg
NM_020631.4:c.1412A>G	NP_065682.2:p.Gln471Arg
NM_198681.3:c.1643A>G	NP_941374.2:p.Gln548Arg
NM_001042663.2:c.1580A>G	NP_001036128.1:p.Gln527Arg
NM_001265594.2:c.1412A>G	NP_001252523.1:p.Gln471Arg
NM_020631.5:c.1412A>G	NP_065682.2:p.Gln471Arg
NM_001042663.3:c.1523A>G	NP_001036128.2:p.Gln508Arg
NM_001265592.2:c.1523A>G	NP_001252521.2:p.Gln508Arg
NM_020631.6:c.1412A>G MANE Select	NP_065682.2:p.Gln471Arg
NM_198681.4:c.1412A>G	NP_941374.3:p.Gln471Arg