Canonical Allele Identifier: CA10611550

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 297912
• ClinVar RCV Id: RCV000387093
• dbSNP Id: rs2986754
• gnomAD v2: 1-6526465-C-G
• gnomAD v3: 1-6466405-C-G
• gnomAD v4: 1-6466405-C-G
• MyVariant Identifiers: chr1:g.6526465C>G (hg19) ; chr1:g.6466405C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6466405C>G , CM000663.2:g.6466405C>G	GRCh38
NC_000001.10:g.6526465C>G , CM000663.1:g.6526465C>G	GRCh37
NC_000001.9:g.6449052C>G	NCBI36
NG_007978.1:g.58605G>C , LRG_262:g.58605G>C
NG_029910.1:g.4791G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.9:c.*1158G>C	ENSP00000344570.5:n.*1158G>C
ENST00000377748.5:c.*1158G>C	ENSP00000366977.1:n.*1158G>C
ENST00000400913.5:c.*1158G>C	ENSP00000383704.1:n.*1158G>C
ENST00000489097.5:n.4655G>C
ENST00000535355.5:c.*1158G>C	ENSP00000441445.1:n.*1158G>C
ENST00000537245.5:c.*1158G>C	ENSP00000439625.1:n.*1158G>C
NM_001042663.1:c.*1158G>C	NP_001036128.1:n.*1158G>C
NM_001042664.1:c.*1158G>C	NP_001036129.1:n.*1158G>C
NM_001042665.1:c.*1158G>C	NP_001036130.1:n.*1158G>C
NM_001265592.1:c.*1158G>C	NP_001252521.1:n.*1158G>C
NM_001265593.1:c.*1158G>C	NP_001252522.1:n.*1158G>C
NM_001265594.1:c.*1186G>C	NP_001252523.1:n.*1186G>C
NM_020631.4:c.*1158G>C	NP_065682.2:n.*1158G>C
NM_198681.3:c.*1158G>C	NP_941374.2:n.*1158G>C
NM_001042663.2:c.*1158G>C	NP_001036128.1:n.*1158G>C
NM_001265594.2:c.*1186G>C	NP_001252523.1:n.*1186G>C
NM_020631.5:c.*1158G>C	NP_065682.2:n.*1158G>C