Canonical Allele Identifier: CA338138684

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 941048
• ClinVar RCV Id: RCV001210755 ; RCV003373033
• dbSNP Id: rs59117380
• gnomAD v2: 1-6534155-G-T
• gnomAD v4: 1-6474095-G-T
• MyVariant Identifiers: chr1:g.6534155G>T (hg19) ; chr1:g.6474095G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474095G>T , CM000663.2:g.6474095G>T	GRCh38
NC_000001.10:g.6534155G>T , CM000663.1:g.6534155G>T	GRCh37
NC_000001.9:g.6456742G>T	NCBI36
NG_007978.1:g.50915C>A , LRG_262:g.50915C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.509C>A	ENSP00000344570.5:p.Pro170Gln
ENST00000377728.8:c.509C>A MANE Select	ENSP00000366957.3:p.Pro170Gln
ENST00000377740.5:c.509C>A	ENSP00000366969.4:p.Pro170Gln
ENST00000377748.6:c.683C>A	ENSP00000366977.2:p.Pro228Gln
ENST00000400913.6:c.509C>A	ENSP00000383704.1:p.Pro170Gln
ENST00000400915.8:c.620C>A	ENSP00000383706.4:p.Pro207Gln
ENST00000489097.6:n.985C>A
ENST00000535355.6:c.716C>A	ENSP00000441445.1:p.Pro239Gln
ENST00000537245.6:c.620C>A	ENSP00000439625.2:p.Pro207Gln
ENST00000673471.2:c.806C>A	ENSP00000500749.1:p.Pro269Gln
ENST00000674790.1:c.*721C>A	ENSP00000502815.1:n.*721C>A
ENST00000675123.1:c.509C>A	ENSP00000502132.1:p.Pro170Gln
ENST00000675548.1:c.*337C>A	ENSP00000502684.1:n.*337C>A
ENST00000675694.1:c.509C>A	ENSP00000501925.1:p.Pro170Gln
ENST00000340850.9:c.509C>A	ENSP00000344570.5:p.Pro170Gln
ENST00000377725.5:c.509C>A	ENSP00000366954.1:p.Pro170Gln
ENST00000377728.7:c.509C>A	ENSP00000366957.3:p.Pro170Gln
ENST00000377732.5:c.620C>A	ENSP00000366961.1:p.Pro207Gln
ENST00000377740.4:c.740C>A	ENSP00000366969.3:p.Pro247Gln
ENST00000377748.5:c.740C>A	ENSP00000366977.1:p.Pro247Gln
ENST00000400913.5:c.509C>A	ENSP00000383704.1:p.Pro170Gln
ENST00000400915.7:c.677C>A	ENSP00000383706.3:p.Pro226Gln
ENST00000489097.5:n.985C>A
ENST00000535355.5:c.716C>A	ENSP00000441445.1:p.Pro239Gln
ENST00000537245.5:c.746C>A	ENSP00000439625.1:p.Pro249Gln
NM_001042663.1:c.677C>A	NP_001036128.1:p.Pro226Gln
NM_001042664.1:c.509C>A	NP_001036129.1:p.Pro170Gln
NM_001042665.1:c.509C>A	NP_001036130.1:p.Pro170Gln
NM_001265592.1:c.746C>A	NP_001252521.1:p.Pro249Gln
NM_001265593.1:c.716C>A	NP_001252522.1:p.Pro239Gln
NM_001265594.1:c.509C>A	NP_001252523.1:p.Pro170Gln
NM_020631.4:c.509C>A	NP_065682.2:p.Pro170Gln
NM_198681.3:c.740C>A	NP_941374.2:p.Pro247Gln
NM_001042663.2:c.677C>A	NP_001036128.1:p.Pro226Gln
NM_001265594.2:c.509C>A	NP_001252523.1:p.Pro170Gln
NM_020631.5:c.509C>A	NP_065682.2:p.Pro170Gln
NM_001042663.3:c.620C>A	NP_001036128.2:p.Pro207Gln
NM_001265592.2:c.620C>A	NP_001252521.2:p.Pro207Gln
NM_020631.6:c.509C>A MANE Select	NP_065682.2:p.Pro170Gln
NM_198681.4:c.509C>A	NP_941374.3:p.Pro170Gln