Canonical Allele Identifier: CA561871

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 859470
• ClinVar RCV Id: RCV001065589 ; RCV003160541
• dbSNP Id: rs768676402
• ExAC: 1:6534550 C / T
• gnomAD v2: 1-6534550-C-T
• gnomAD v3: 1-6474490-C-T
• gnomAD v4: 1-6474490-C-T
• MyVariant Identifiers: chr1:g.6534550C>T (hg19) ; chr1:g.6474490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474490C>T , CM000663.2:g.6474490C>T	GRCh38
NC_000001.10:g.6534550C>T , CM000663.1:g.6534550C>T	GRCh37
NC_000001.9:g.6457137C>T	NCBI36
NG_007978.1:g.50520G>A , LRG_262:g.50520G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.400G>A	ENSP00000344570.5:p.Glu134Lys
ENST00000377728.8:c.400G>A MANE Select	ENSP00000366957.3:p.Glu134Lys
ENST00000377740.5:c.400G>A	ENSP00000366969.4:p.Glu134Lys
ENST00000377748.6:c.574G>A	ENSP00000366977.2:p.Glu192Lys
ENST00000400913.6:c.400G>A	ENSP00000383704.1:p.Glu134Lys
ENST00000400915.8:c.511G>A	ENSP00000383706.4:p.Glu171Lys
ENST00000489097.6:n.876G>A
ENST00000535355.6:c.607G>A	ENSP00000441445.1:p.Glu203Lys
ENST00000537245.6:c.511G>A	ENSP00000439625.2:p.Glu171Lys
ENST00000673471.2:c.697G>A	ENSP00000500749.1:p.Glu233Lys
ENST00000674790.1:c.*612G>A	ENSP00000502815.1:n.*612G>A
ENST00000675123.1:c.400G>A	ENSP00000502132.1:p.Glu134Lys
ENST00000675548.1:c.*228G>A	ENSP00000502684.1:n.*228G>A
ENST00000675694.1:c.400G>A	ENSP00000501925.1:p.Glu134Lys
ENST00000676255.1:c.362G>A	ENSP00000502459.1:n.362G>A
ENST00000340850.9:c.400G>A	ENSP00000344570.5:p.Glu134Lys
ENST00000377725.5:c.400G>A	ENSP00000366954.1:p.Glu134Lys
ENST00000377728.7:c.400G>A	ENSP00000366957.3:p.Glu134Lys
ENST00000377732.5:c.511G>A	ENSP00000366961.1:p.Glu171Lys
ENST00000377740.4:c.631G>A	ENSP00000366969.3:p.Glu211Lys
ENST00000377748.5:c.631G>A	ENSP00000366977.1:p.Glu211Lys
ENST00000400913.5:c.400G>A	ENSP00000383704.1:p.Glu134Lys
ENST00000400915.7:c.568G>A	ENSP00000383706.3:p.Glu190Lys
ENST00000489097.5:n.876G>A
ENST00000535355.5:c.607G>A	ENSP00000441445.1:p.Glu203Lys
ENST00000537245.5:c.637G>A	ENSP00000439625.1:p.Glu213Lys
NM_001042663.1:c.568G>A	NP_001036128.1:p.Glu190Lys
NM_001042664.1:c.400G>A	NP_001036129.1:p.Glu134Lys
NM_001042665.1:c.400G>A	NP_001036130.1:p.Glu134Lys
NM_001265592.1:c.637G>A	NP_001252521.1:p.Glu213Lys
NM_001265593.1:c.607G>A	NP_001252522.1:p.Glu203Lys
NM_001265594.1:c.400G>A	NP_001252523.1:p.Glu134Lys
NM_020631.4:c.400G>A	NP_065682.2:p.Glu134Lys
NM_198681.3:c.631G>A	NP_941374.2:p.Glu211Lys
NM_001042663.2:c.568G>A	NP_001036128.1:p.Glu190Lys
NM_001265594.2:c.400G>A	NP_001252523.1:p.Glu134Lys
NM_020631.5:c.400G>A	NP_065682.2:p.Glu134Lys
NM_001042663.3:c.511G>A	NP_001036128.2:p.Glu171Lys
NM_001265592.2:c.511G>A	NP_001252521.2:p.Glu171Lys
NM_020631.6:c.400G>A MANE Select	NP_065682.2:p.Glu134Lys
NM_198681.4:c.400G>A	NP_941374.3:p.Glu134Lys