Canonical Allele Identifier: CA338128542

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1768565
• ClinVar RCV Id: RCV002387473
• MyVariant Identifiers: chr1:g.6531158G>C (hg19) ; chr1:g.6471098G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6471098G>C , CM000663.2:g.6471098G>C	GRCh38
NC_000001.10:g.6531158G>C , CM000663.1:g.6531158G>C	GRCh37
NC_000001.9:g.6453745G>C	NCBI36
NG_007978.1:g.53912C>G , LRG_262:g.53912C>G
NG_029910.1:g.98C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1284C>G	ENSP00000344570.5:p.Phe428Leu
ENST00000377728.8:c.1284C>G MANE Select	ENSP00000366957.3:p.Phe428Leu
ENST00000377740.5:c.1284C>G	ENSP00000366969.4:p.Phe428Leu
ENST00000377748.6:c.1458C>G	ENSP00000366977.2:p.Phe486Leu
ENST00000400913.6:c.1284C>G	ENSP00000383704.1:p.Phe428Leu
ENST00000400915.8:c.1395C>G	ENSP00000383706.4:p.Phe465Leu
ENST00000489097.6:n.1760C>G
ENST00000535355.6:c.1491C>G	ENSP00000441445.1:p.Phe497Leu
ENST00000537245.6:c.1395C>G	ENSP00000439625.2:p.Phe465Leu
ENST00000673471.2:c.1581C>G	ENSP00000500749.1:p.Phe527Leu
ENST00000674685.1:n.317C>G
ENST00000674790.1:c.*1496C>G	ENSP00000502815.1:n.*1496C>G
ENST00000675123.1:c.1284C>G	ENSP00000502132.1:p.Phe428Leu
ENST00000675548.1:c.*1112C>G	ENSP00000502684.1:n.*1112C>G
ENST00000675694.1:c.1284C>G	ENSP00000501925.1:p.Phe428Leu
ENST00000340850.9:c.1284C>G	ENSP00000344570.5:p.Phe428Leu
ENST00000377725.5:c.1284C>G	ENSP00000366954.1:p.Phe428Leu
ENST00000377728.7:c.1284C>G	ENSP00000366957.3:p.Phe428Leu
ENST00000377732.5:c.1395C>G	ENSP00000366961.1:p.Phe465Leu
ENST00000377740.4:c.1515C>G	ENSP00000366969.3:p.Phe505Leu
ENST00000377748.5:c.1515C>G	ENSP00000366977.1:p.Phe505Leu
ENST00000400913.5:c.1284C>G	ENSP00000383704.1:p.Phe428Leu
ENST00000400915.7:c.1452C>G	ENSP00000383706.3:p.Phe484Leu
ENST00000487949.4:n.486C>G
ENST00000489097.5:n.1760C>G
ENST00000535355.5:c.1491C>G	ENSP00000441445.1:p.Phe497Leu
ENST00000537245.5:c.1521C>G	ENSP00000439625.1:p.Phe507Leu
NM_001042663.1:c.1452C>G	NP_001036128.1:p.Phe484Leu
NM_001042664.1:c.1284C>G	NP_001036129.1:p.Phe428Leu
NM_001042665.1:c.1284C>G	NP_001036130.1:p.Phe428Leu
NM_001265592.1:c.1521C>G	NP_001252521.1:p.Phe507Leu
NM_001265593.1:c.1491C>G	NP_001252522.1:p.Phe497Leu
NM_001265594.1:c.1284C>G	NP_001252523.1:p.Phe428Leu
NM_020631.4:c.1284C>G	NP_065682.2:p.Phe428Leu
NM_198681.3:c.1515C>G	NP_941374.2:p.Phe505Leu
NM_001042663.2:c.1452C>G	NP_001036128.1:p.Phe484Leu
NM_001265594.2:c.1284C>G	NP_001252523.1:p.Phe428Leu
NM_020631.5:c.1284C>G	NP_065682.2:p.Phe428Leu
NM_001042663.3:c.1395C>G	NP_001036128.2:p.Phe465Leu
NM_001265592.2:c.1395C>G	NP_001252521.2:p.Phe465Leu
NM_020631.6:c.1284C>G MANE Select	NP_065682.2:p.Phe428Leu
NM_198681.4:c.1284C>G	NP_941374.3:p.Phe428Leu