Canonical Allele Identifier: CA561139

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 297940
• ClinVar RCV Id: RCV001753757 ; RCV000348442 ; RCV000538204 ; RCV002429249
• dbSNP Id: rs761000380
• ExAC: 1:6528353 C / T
• gnomAD v2: 1-6528353-C-T
• gnomAD v3: 1-6468293-C-T
• gnomAD v4: 1-6468293-C-T
• COSMIC: COSM5592611 ; COSM5592612 ; COSM5592613
• MyVariant Identifiers: chr1:g.6528353C>T (hg19) ; chr1:g.6468293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468293C>T , CM000663.2:g.6468293C>T	GRCh38
NC_000001.10:g.6528353C>T , CM000663.1:g.6528353C>T	GRCh37
NC_000001.9:g.6450940C>T	NCBI36
NG_007978.1:g.56717G>A , LRG_262:g.56717G>A
NG_029910.1:g.2903G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2543G>A	ENSP00000344570.5:p.Arg848Gln
ENST00000377728.8:c.2543G>A MANE Select	ENSP00000366957.3:p.Arg848Gln
ENST00000377740.5:c.2543G>A	ENSP00000366969.4:p.Arg848Gln
ENST00000377748.6:c.2717G>A	ENSP00000366977.2:p.Arg906Gln
ENST00000400913.6:c.2543G>A	ENSP00000383704.1:p.Arg848Gln
ENST00000400915.8:c.2654G>A	ENSP00000383706.4:p.Arg885Gln
ENST00000489097.6:n.3019G>A
ENST00000535355.6:c.2750G>A	ENSP00000441445.1:p.Arg917Gln
ENST00000537245.6:c.2654G>A	ENSP00000439625.2:p.Arg885Gln
ENST00000673471.2:c.2840G>A	ENSP00000500749.1:p.Arg947Gln
ENST00000674790.1:c.*2755G>A	ENSP00000502815.1:n.*2755G>A
ENST00000675123.1:c.2250-400G>A	ENSP00000502132.1:n.2250-400G>A
ENST00000675548.1:c.*2371G>A	ENSP00000502684.1:n.*2371G>A
ENST00000675694.1:c.2543G>A	ENSP00000501925.1:p.Arg848Gln
ENST00000675976.1:c.416G>A	ENSP00000501611.1:p.Arg139Gln
ENST00000340850.9:c.2543G>A	ENSP00000344570.5:p.Arg848Gln
ENST00000377725.5:c.2543G>A	ENSP00000366954.1:p.Arg848Gln
ENST00000377728.7:c.2543G>A	ENSP00000366957.3:p.Arg848Gln
ENST00000377732.5:c.2654G>A	ENSP00000366961.1:p.Arg885Gln
ENST00000377740.4:c.2481-400G>A	ENSP00000366969.3:n.2481-400G>A
ENST00000377748.5:c.2774G>A	ENSP00000366977.1:p.Arg925Gln
ENST00000400913.5:c.2543G>A	ENSP00000383704.1:p.Arg848Gln
ENST00000400915.7:c.2711G>A	ENSP00000383706.3:p.Arg904Gln
ENST00000487949.4:n.1745G>A
ENST00000489097.5:n.3019G>A
ENST00000535355.5:c.2750G>A	ENSP00000441445.1:p.Arg917Gln
ENST00000537245.5:c.2780G>A	ENSP00000439625.1:p.Arg927Gln
NM_001042663.1:c.2711G>A	NP_001036128.1:p.Arg904Gln
NM_001042664.1:c.2543G>A	NP_001036129.1:p.Arg848Gln
NM_001042665.1:c.2543G>A	NP_001036130.1:p.Arg848Gln
NM_001265592.1:c.2780G>A	NP_001252521.1:p.Arg927Gln
NM_001265593.1:c.2750G>A	NP_001252522.1:p.Arg917Gln
NM_001265594.1:c.2543G>A	NP_001252523.1:p.Arg848Gln
NM_020631.4:c.2543G>A	NP_065682.2:p.Arg848Gln
NM_198681.3:c.2774G>A	NP_941374.2:p.Arg925Gln
NM_001042663.2:c.2711G>A	NP_001036128.1:p.Arg904Gln
NM_001265594.2:c.2543G>A	NP_001252523.1:p.Arg848Gln
NM_020631.5:c.2543G>A	NP_065682.2:p.Arg848Gln
NM_001042663.3:c.2654G>A	NP_001036128.2:p.Arg885Gln
NM_001265592.2:c.2654G>A	NP_001252521.2:p.Arg885Gln
NM_020631.6:c.2543G>A MANE Select	NP_065682.2:p.Arg848Gln
NM_198681.4:c.2543G>A	NP_941374.3:p.Arg848Gln