Canonical Allele Identifier: CA338142537

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6477636-T-C
• MyVariant Identifiers: chr1:g.6537696T>C (hg19) ; chr1:g.6477636T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6477636T>C , CM000663.2:g.6477636T>C	GRCh38
NC_000001.10:g.6537696T>C , CM000663.1:g.6537696T>C	GRCh37
NC_000001.9:g.6460283T>C	NCBI36
NG_007978.1:g.47374A>G , LRG_262:g.47374A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.-65A>G	ENSP00000344570.5:n.-65A>G
ENST00000377728.8:c.-65A>G MANE Select	ENSP00000366957.3:n.-65A>G
ENST00000377740.5:c.-65A>G	ENSP00000366969.4:n.-65A>G
ENST00000377748.6:c.47A>G	ENSP00000366977.2:p.Gln16Arg
ENST00000400913.6:c.-65A>G	ENSP00000383704.1:n.-65A>G
ENST00000400915.8:c.47A>G	ENSP00000383706.4:p.Gln16Arg
ENST00000535355.6:c.143A>G	ENSP00000441445.1:p.Gln48Arg
ENST00000537245.6:c.47A>G	ENSP00000439625.2:p.Gln16Arg
ENST00000673471.2:c.233A>G	ENSP00000500749.1:p.Gln78Arg
ENST00000674790.1:c.*148A>G	ENSP00000502815.1:n.*148A>G
ENST00000674803.1:n.166A>G
ENST00000675093.1:c.-65A>G	ENSP00000502687.1:n.-65A>G
ENST00000675123.1:c.-65A>G	ENSP00000502132.1:n.-65A>G
ENST00000675548.1:c.121A>G	ENSP00000502684.1:p.Ser41Gly
ENST00000675655.1:n.142A>G
ENST00000675694.1:c.-65A>G	ENSP00000501925.1:n.-65A>G
ENST00000676287.1:c.-65A>G	ENSP00000502810.1:n.-65A>G
ENST00000676362.1:n.159A>G
ENST00000340850.9:c.-65A>G	ENSP00000344570.5:n.-65A>G
ENST00000377725.5:c.-65A>G	ENSP00000366954.1:n.-65A>G
ENST00000377728.7:c.-65A>G	ENSP00000366957.3:n.-65A>G
ENST00000377732.5:c.47A>G	ENSP00000366961.1:p.Gln16Arg
ENST00000377740.4:c.167A>G	ENSP00000366969.3:p.Gln56Arg
ENST00000377748.5:c.167A>G	ENSP00000366977.1:p.Gln56Arg
ENST00000400913.5:c.-65A>G	ENSP00000383704.1:n.-65A>G
ENST00000400915.7:c.104A>G	ENSP00000383706.3:p.Gln35Arg
ENST00000535355.5:c.143A>G	ENSP00000441445.1:p.Gln48Arg
ENST00000537245.5:c.173A>G	ENSP00000439625.1:p.Gln58Arg
NM_001042663.1:c.104A>G	NP_001036128.1:p.Gln35Arg
NM_001042664.1:c.-65A>G	NP_001036129.1:n.-65A>G
NM_001042665.1:c.-65A>G	NP_001036130.1:n.-65A>G
NM_001265592.1:c.173A>G	NP_001252521.1:p.Gln58Arg
NM_001265593.1:c.143A>G	NP_001252522.1:p.Gln48Arg
NM_001265594.1:c.-65A>G	NP_001252523.1:n.-65A>G
NM_020631.4:c.-65A>G	NP_065682.2:n.-65A>G
NM_198681.3:c.167A>G	NP_941374.2:p.Gln56Arg
NM_001042663.2:c.104A>G	NP_001036128.1:p.Gln35Arg
NM_001265594.2:c.-65A>G	NP_001252523.1:n.-65A>G
NM_020631.5:c.-65A>G	NP_065682.2:n.-65A>G
NM_001042663.3:c.47A>G	NP_001036128.2:p.Gln16Arg
NM_001265592.2:c.47A>G	NP_001252521.2:p.Gln16Arg
NM_020631.6:c.-65A>G MANE Select	NP_065682.2:n.-65A>G
NM_198681.4:c.-65A>G	NP_941374.3:n.-65A>G