Canonical Allele Identifier: CA520766460

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1466569592
• gnomAD v2: 1-6537473-G-C
• gnomAD v3: 1-6477413-G-C
• gnomAD v4: 1-6477413-G-C
• MyVariant Identifiers: chr1:g.6537473G>C (hg19) ; chr1:g.6477413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6477413G>C , CM000663.2:g.6477413G>C	GRCh38
NC_000001.10:g.6537473G>C , CM000663.1:g.6537473G>C	GRCh37
NC_000001.9:g.6460060G>C	NCBI36
NG_007978.1:g.47597C>G , LRG_262:g.47597C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.43+116C>G	ENSP00000344570.5:n.43+116C>G
ENST00000377728.8:c.43+116C>G MANE Select	ENSP00000366957.3:n.43+116C>G
ENST00000377740.5:c.43+116C>G	ENSP00000366969.4:n.43+116C>G
ENST00000377748.6:c.154+116C>G	ENSP00000366977.2:n.154+116C>G
ENST00000400913.6:c.43+116C>G	ENSP00000383704.1:n.43+116C>G
ENST00000400915.8:c.154+116C>G	ENSP00000383706.4:n.154+116C>G
ENST00000489097.6:n.60+116C>G
ENST00000535355.6:c.250+116C>G	ENSP00000441445.1:n.250+116C>G
ENST00000537245.6:c.154+116C>G	ENSP00000439625.2:n.154+116C>G
ENST00000673471.2:c.340+116C>G	ENSP00000500749.1:n.340+116C>G
ENST00000674790.1:c.*255+116C>G	ENSP00000502815.1:n.*255+116C>G
ENST00000674803.1:n.273+116C>G
ENST00000675093.1:c.43+116C>G	ENSP00000502687.1:n.43+116C>G
ENST00000675123.1:c.43+116C>G	ENSP00000502132.1:n.43+116C>G
ENST00000675548.1:c.228+116C>G	ENSP00000502684.1:n.228+116C>G
ENST00000675655.1:n.249+116C>G
ENST00000675694.1:c.43+116C>G	ENSP00000501925.1:n.43+116C>G
ENST00000676287.1:c.43+116C>G	ENSP00000502810.1:n.43+116C>G
ENST00000676362.1:n.266+116C>G
ENST00000340850.9:c.43+116C>G	ENSP00000344570.5:n.43+116C>G
ENST00000377725.5:c.43+116C>G	ENSP00000366954.1:n.43+116C>G
ENST00000377728.7:c.43+116C>G	ENSP00000366957.3:n.43+116C>G
ENST00000377732.5:c.154+116C>G	ENSP00000366961.1:n.154+116C>G
ENST00000377740.4:c.274+116C>G	ENSP00000366969.3:n.274+116C>G
ENST00000377748.5:c.274+116C>G	ENSP00000366977.1:n.274+116C>G
ENST00000400913.5:c.43+116C>G	ENSP00000383704.1:n.43+116C>G
ENST00000400915.7:c.211+116C>G	ENSP00000383706.3:n.211+116C>G
ENST00000489097.5:n.60+116C>G
ENST00000535355.5:c.250+116C>G	ENSP00000441445.1:n.250+116C>G
ENST00000537245.5:c.280+116C>G	ENSP00000439625.1:n.280+116C>G
NM_001042663.1:c.211+116C>G	NP_001036128.1:n.211+116C>G
NM_001042664.1:c.43+116C>G	NP_001036129.1:n.43+116C>G
NM_001042665.1:c.43+116C>G	NP_001036130.1:n.43+116C>G
NM_001265592.1:c.280+116C>G	NP_001252521.1:n.280+116C>G
NM_001265593.1:c.250+116C>G	NP_001252522.1:n.250+116C>G
NM_001265594.1:c.43+116C>G	NP_001252523.1:n.43+116C>G
NM_020631.4:c.43+116C>G	NP_065682.2:n.43+116C>G
NM_198681.3:c.274+116C>G	NP_941374.2:n.274+116C>G
NM_001042663.2:c.211+116C>G	NP_001036128.1:n.211+116C>G
NM_001265594.2:c.43+116C>G	NP_001252523.1:n.43+116C>G
NM_020631.5:c.43+116C>G	NP_065682.2:n.43+116C>G
NM_001042663.3:c.154+116C>G	NP_001036128.2:n.154+116C>G
NM_001265592.2:c.154+116C>G	NP_001252521.2:n.154+116C>G
NM_020631.6:c.43+116C>G MANE Select	NP_065682.2:n.43+116C>G
NM_198681.4:c.43+116C>G	NP_941374.3:n.43+116C>G