Canonical Allele Identifier: CA338139577

Gene: PLEKHG5

Linked Data

• MyVariant Identifiers: chr1:g.6534628A>G (hg19) ; chr1:g.6474568A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474568A>G , CM000663.2:g.6474568A>G	GRCh38
NC_000001.10:g.6534628A>G , CM000663.1:g.6534628A>G	GRCh37
NC_000001.9:g.6457215A>G	NCBI36
NG_007978.1:g.50442T>C , LRG_262:g.50442T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.322T>C	ENSP00000344570.5:p.Phe108Leu
ENST00000377728.8:c.322T>C MANE Select	ENSP00000366957.3:p.Phe108Leu
ENST00000377740.5:c.322T>C	ENSP00000366969.4:p.Phe108Leu
ENST00000377748.6:c.496T>C	ENSP00000366977.2:p.Phe166Leu
ENST00000400913.6:c.322T>C	ENSP00000383704.1:p.Phe108Leu
ENST00000400915.8:c.433T>C	ENSP00000383706.4:p.Phe145Leu
ENST00000489097.6:n.798T>C
ENST00000535355.6:c.529T>C	ENSP00000441445.1:p.Phe177Leu
ENST00000537245.6:c.433T>C	ENSP00000439625.2:p.Phe145Leu
ENST00000673471.2:c.619T>C	ENSP00000500749.1:p.Phe207Leu
ENST00000674790.1:c.*534T>C	ENSP00000502815.1:n.*534T>C
ENST00000675123.1:c.322T>C	ENSP00000502132.1:p.Phe108Leu
ENST00000675548.1:c.*150T>C	ENSP00000502684.1:n.*150T>C
ENST00000675694.1:c.322T>C	ENSP00000501925.1:p.Phe108Leu
ENST00000676255.1:c.284T>C	ENSP00000502459.1:n.284T>C
ENST00000340850.9:c.322T>C	ENSP00000344570.5:p.Phe108Leu
ENST00000377725.5:c.322T>C	ENSP00000366954.1:p.Phe108Leu
ENST00000377728.7:c.322T>C	ENSP00000366957.3:p.Phe108Leu
ENST00000377732.5:c.433T>C	ENSP00000366961.1:p.Phe145Leu
ENST00000377740.4:c.553T>C	ENSP00000366969.3:p.Phe185Leu
ENST00000377748.5:c.553T>C	ENSP00000366977.1:p.Phe185Leu
ENST00000400913.5:c.322T>C	ENSP00000383704.1:p.Phe108Leu
ENST00000400915.7:c.490T>C	ENSP00000383706.3:p.Phe164Leu
ENST00000489097.5:n.798T>C
ENST00000535355.5:c.529T>C	ENSP00000441445.1:p.Phe177Leu
ENST00000537245.5:c.559T>C	ENSP00000439625.1:p.Phe187Leu
NM_001042663.1:c.490T>C	NP_001036128.1:p.Phe164Leu
NM_001042664.1:c.322T>C	NP_001036129.1:p.Phe108Leu
NM_001042665.1:c.322T>C	NP_001036130.1:p.Phe108Leu
NM_001265592.1:c.559T>C	NP_001252521.1:p.Phe187Leu
NM_001265593.1:c.529T>C	NP_001252522.1:p.Phe177Leu
NM_001265594.1:c.322T>C	NP_001252523.1:p.Phe108Leu
NM_020631.4:c.322T>C	NP_065682.2:p.Phe108Leu
NM_198681.3:c.553T>C	NP_941374.2:p.Phe185Leu
NM_001042663.2:c.490T>C	NP_001036128.1:p.Phe164Leu
NM_001265594.2:c.322T>C	NP_001252523.1:p.Phe108Leu
NM_020631.5:c.322T>C	NP_065682.2:p.Phe108Leu
NM_001042663.3:c.433T>C	NP_001036128.2:p.Phe145Leu
NM_001265592.2:c.433T>C	NP_001252521.2:p.Phe145Leu
NM_020631.6:c.322T>C MANE Select	NP_065682.2:p.Phe108Leu
NM_198681.4:c.322T>C	NP_941374.3:p.Phe108Leu