Canonical Allele Identifier: CA415834115

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6474488-C-T
• MyVariant Identifiers: chr1:g.6534548C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474488C>T , CM000663.2:g.6474488C>T	GRCh38
NC_000001.10:g.6534548C>T , CM000663.1:g.6534548C>T	GRCh37
NC_000001.9:g.6457135C>T	NCBI36
NG_007978.1:g.50522G>A , LRG_262:g.50522G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.402G>A	ENSP00000344570.5:p.Glu134=
ENST00000377728.8:c.402G>A MANE Select	ENSP00000366957.3:p.Glu134=
ENST00000377740.5:c.402G>A	ENSP00000366969.4:p.Glu134=
ENST00000377748.6:c.576G>A	ENSP00000366977.2:p.Glu192=
ENST00000400913.6:c.402G>A	ENSP00000383704.1:p.Glu134=
ENST00000400915.8:c.513G>A	ENSP00000383706.4:p.Glu171=
ENST00000489097.6:n.878G>A
ENST00000535355.6:c.609G>A	ENSP00000441445.1:p.Glu203=
ENST00000537245.6:c.513G>A	ENSP00000439625.2:p.Glu171=
ENST00000673471.2:c.699G>A	ENSP00000500749.1:p.Glu233=
ENST00000674790.1:c.*614G>A	ENSP00000502815.1:n.*614G>A
ENST00000675123.1:c.402G>A	ENSP00000502132.1:p.Glu134=
ENST00000675548.1:c.*230G>A	ENSP00000502684.1:n.*230G>A
ENST00000675694.1:c.402G>A	ENSP00000501925.1:p.Glu134=
ENST00000676255.1:c.364G>A	ENSP00000502459.1:n.364G>A
ENST00000340850.9:c.402G>A	ENSP00000344570.5:p.Glu134=
ENST00000377725.5:c.402G>A	ENSP00000366954.1:p.Glu134=
ENST00000377728.7:c.402G>A	ENSP00000366957.3:p.Glu134=
ENST00000377732.5:c.513G>A	ENSP00000366961.1:p.Glu171=
ENST00000377740.4:c.633G>A	ENSP00000366969.3:p.Glu211=
ENST00000377748.5:c.633G>A	ENSP00000366977.1:p.Glu211=
ENST00000400913.5:c.402G>A	ENSP00000383704.1:p.Glu134=
ENST00000400915.7:c.570G>A	ENSP00000383706.3:p.Glu190=
ENST00000489097.5:n.878G>A
ENST00000535355.5:c.609G>A	ENSP00000441445.1:p.Glu203=
ENST00000537245.5:c.639G>A	ENSP00000439625.1:p.Glu213=
NM_001042663.1:c.570G>A	NP_001036128.1:p.Glu190=
NM_001042664.1:c.402G>A	NP_001036129.1:p.Glu134=
NM_001042665.1:c.402G>A	NP_001036130.1:p.Glu134=
NM_001265592.1:c.639G>A	NP_001252521.1:p.Glu213=
NM_001265593.1:c.609G>A	NP_001252522.1:p.Glu203=
NM_001265594.1:c.402G>A	NP_001252523.1:p.Glu134=
NM_020631.4:c.402G>A	NP_065682.2:p.Glu134=
NM_198681.3:c.633G>A	NP_941374.2:p.Glu211=
NM_001042663.2:c.570G>A	NP_001036128.1:p.Glu190=
NM_001265594.2:c.402G>A	NP_001252523.1:p.Glu134=
NM_020631.5:c.402G>A	NP_065682.2:p.Glu134=
NM_001042663.3:c.513G>A	NP_001036128.2:p.Glu171=
NM_001265592.2:c.513G>A	NP_001252521.2:p.Glu171=
NM_020631.6:c.402G>A MANE Select	NP_065682.2:p.Glu134=
NM_198681.4:c.402G>A	NP_941374.3:p.Glu134=