Canonical Allele Identifier: CA338139633

Gene: PLEKHG5

Linked Data

• MyVariant Identifiers: chr1:g.6534639A>T (hg19) ; chr1:g.6474579A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474579A>T , CM000663.2:g.6474579A>T	GRCh38
NC_000001.10:g.6534639A>T , CM000663.1:g.6534639A>T	GRCh37
NC_000001.9:g.6457226A>T	NCBI36
NG_007978.1:g.50431T>A , LRG_262:g.50431T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.311T>A	ENSP00000344570.5:p.Leu104Gln
ENST00000377728.8:c.311T>A MANE Select	ENSP00000366957.3:p.Leu104Gln
ENST00000377740.5:c.311T>A	ENSP00000366969.4:p.Leu104Gln
ENST00000377748.6:c.485T>A	ENSP00000366977.2:p.Leu162Gln
ENST00000400913.6:c.311T>A	ENSP00000383704.1:p.Leu104Gln
ENST00000400915.8:c.422T>A	ENSP00000383706.4:p.Leu141Gln
ENST00000489097.6:n.787T>A
ENST00000535355.6:c.518T>A	ENSP00000441445.1:p.Leu173Gln
ENST00000537245.6:c.422T>A	ENSP00000439625.2:p.Leu141Gln
ENST00000673471.2:c.608T>A	ENSP00000500749.1:p.Leu203Gln
ENST00000674790.1:c.*523T>A	ENSP00000502815.1:n.*523T>A
ENST00000675093.1:c.311T>A	ENSP00000502687.1:p.Leu104Gln
ENST00000675123.1:c.311T>A	ENSP00000502132.1:p.Leu104Gln
ENST00000675548.1:c.*139T>A	ENSP00000502684.1:n.*139T>A
ENST00000675694.1:c.311T>A	ENSP00000501925.1:p.Leu104Gln
ENST00000676255.1:c.273T>A	ENSP00000502459.1:n.273T>A
ENST00000676287.1:c.311T>A	ENSP00000502810.1:p.Leu104Gln
ENST00000340850.9:c.311T>A	ENSP00000344570.5:p.Leu104Gln
ENST00000377725.5:c.311T>A	ENSP00000366954.1:p.Leu104Gln
ENST00000377728.7:c.311T>A	ENSP00000366957.3:p.Leu104Gln
ENST00000377732.5:c.422T>A	ENSP00000366961.1:p.Leu141Gln
ENST00000377740.4:c.542T>A	ENSP00000366969.3:p.Leu181Gln
ENST00000377748.5:c.542T>A	ENSP00000366977.1:p.Leu181Gln
ENST00000400913.5:c.311T>A	ENSP00000383704.1:p.Leu104Gln
ENST00000400915.7:c.479T>A	ENSP00000383706.3:p.Leu160Gln
ENST00000489097.5:n.787T>A
ENST00000535355.5:c.518T>A	ENSP00000441445.1:p.Leu173Gln
ENST00000537245.5:c.548T>A	ENSP00000439625.1:p.Leu183Gln
NM_001042663.1:c.479T>A	NP_001036128.1:p.Leu160Gln
NM_001042664.1:c.311T>A	NP_001036129.1:p.Leu104Gln
NM_001042665.1:c.311T>A	NP_001036130.1:p.Leu104Gln
NM_001265592.1:c.548T>A	NP_001252521.1:p.Leu183Gln
NM_001265593.1:c.518T>A	NP_001252522.1:p.Leu173Gln
NM_001265594.1:c.311T>A	NP_001252523.1:p.Leu104Gln
NM_020631.4:c.311T>A	NP_065682.2:p.Leu104Gln
NM_198681.3:c.542T>A	NP_941374.2:p.Leu181Gln
NM_001042663.2:c.479T>A	NP_001036128.1:p.Leu160Gln
NM_001265594.2:c.311T>A	NP_001252523.1:p.Leu104Gln
NM_020631.5:c.311T>A	NP_065682.2:p.Leu104Gln
NM_001042663.3:c.422T>A	NP_001036128.2:p.Leu141Gln
NM_001265592.2:c.422T>A	NP_001252521.2:p.Leu141Gln
NM_020631.6:c.311T>A MANE Select	NP_065682.2:p.Leu104Gln
NM_198681.4:c.311T>A	NP_941374.3:p.Leu104Gln