Canonical Allele Identifier: CA17243754

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1411968
• ClinVar RCV Id: RCV001923010
• dbSNP Id: rs986133840
• gnomAD v4: 1-6474483-T-C
• MyVariant Identifiers: chr1:g.6534543T>C (hg19) ; chr1:g.6474483T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474483T>C , CM000663.2:g.6474483T>C	GRCh38
NC_000001.10:g.6534543T>C , CM000663.1:g.6534543T>C	GRCh37
NC_000001.9:g.6457130T>C	NCBI36
NG_007978.1:g.50527A>G , LRG_262:g.50527A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.407A>G	ENSP00000344570.5:p.Tyr136Cys
ENST00000377728.8:c.407A>G MANE Select	ENSP00000366957.3:p.Tyr136Cys
ENST00000377740.5:c.407A>G	ENSP00000366969.4:p.Tyr136Cys
ENST00000377748.6:c.581A>G	ENSP00000366977.2:p.Tyr194Cys
ENST00000400913.6:c.407A>G	ENSP00000383704.1:p.Tyr136Cys
ENST00000400915.8:c.518A>G	ENSP00000383706.4:p.Tyr173Cys
ENST00000489097.6:n.883A>G
ENST00000535355.6:c.614A>G	ENSP00000441445.1:p.Tyr205Cys
ENST00000537245.6:c.518A>G	ENSP00000439625.2:p.Tyr173Cys
ENST00000673471.2:c.704A>G	ENSP00000500749.1:p.Tyr235Cys
ENST00000674790.1:c.*619A>G	ENSP00000502815.1:n.*619A>G
ENST00000675123.1:c.407A>G	ENSP00000502132.1:p.Tyr136Cys
ENST00000675548.1:c.*235A>G	ENSP00000502684.1:n.*235A>G
ENST00000675694.1:c.407A>G	ENSP00000501925.1:p.Tyr136Cys
ENST00000676255.1:c.369A>G	ENSP00000502459.1:n.369A>G
ENST00000340850.9:c.407A>G	ENSP00000344570.5:p.Tyr136Cys
ENST00000377725.5:c.407A>G	ENSP00000366954.1:p.Tyr136Cys
ENST00000377728.7:c.407A>G	ENSP00000366957.3:p.Tyr136Cys
ENST00000377732.5:c.518A>G	ENSP00000366961.1:p.Tyr173Cys
ENST00000377740.4:c.638A>G	ENSP00000366969.3:p.Tyr213Cys
ENST00000377748.5:c.638A>G	ENSP00000366977.1:p.Tyr213Cys
ENST00000400913.5:c.407A>G	ENSP00000383704.1:p.Tyr136Cys
ENST00000400915.7:c.575A>G	ENSP00000383706.3:p.Tyr192Cys
ENST00000489097.5:n.883A>G
ENST00000535355.5:c.614A>G	ENSP00000441445.1:p.Tyr205Cys
ENST00000537245.5:c.644A>G	ENSP00000439625.1:p.Tyr215Cys
NM_001042663.1:c.575A>G	NP_001036128.1:p.Tyr192Cys
NM_001042664.1:c.407A>G	NP_001036129.1:p.Tyr136Cys
NM_001042665.1:c.407A>G	NP_001036130.1:p.Tyr136Cys
NM_001265592.1:c.644A>G	NP_001252521.1:p.Tyr215Cys
NM_001265593.1:c.614A>G	NP_001252522.1:p.Tyr205Cys
NM_001265594.1:c.407A>G	NP_001252523.1:p.Tyr136Cys
NM_020631.4:c.407A>G	NP_065682.2:p.Tyr136Cys
NM_198681.3:c.638A>G	NP_941374.2:p.Tyr213Cys
NM_001042663.2:c.575A>G	NP_001036128.1:p.Tyr192Cys
NM_001265594.2:c.407A>G	NP_001252523.1:p.Tyr136Cys
NM_020631.5:c.407A>G	NP_065682.2:p.Tyr136Cys
NM_001042663.3:c.518A>G	NP_001036128.2:p.Tyr173Cys
NM_001265592.2:c.518A>G	NP_001252521.2:p.Tyr173Cys
NM_020631.6:c.407A>G MANE Select	NP_065682.2:p.Tyr136Cys
NM_198681.4:c.407A>G	NP_941374.3:p.Tyr136Cys