Canonical Allele Identifier: CA737855082

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1016486644
• gnomAD v4: 1-6474735-G-C
• MyVariant Identifiers: chr1:g.6534795G>C (hg19) ; chr1:g.6474735G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474735G>C , CM000663.2:g.6474735G>C	GRCh38
NC_000001.10:g.6534795G>C , CM000663.1:g.6534795G>C	GRCh37
NC_000001.9:g.6457382G>C	NCBI36
NG_007978.1:g.50275C>G , LRG_262:g.50275C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.303-148C>G	ENSP00000344570.5:n.303-148C>G
ENST00000377728.8:c.303-148C>G MANE Select	ENSP00000366957.3:n.303-148C>G
ENST00000377740.5:c.303-148C>G	ENSP00000366969.4:n.303-148C>G
ENST00000377748.6:c.477-148C>G	ENSP00000366977.2:n.477-148C>G
ENST00000400913.6:c.303-148C>G	ENSP00000383704.1:n.303-148C>G
ENST00000400915.8:c.414-148C>G	ENSP00000383706.4:n.414-148C>G
ENST00000489097.6:n.631C>G
ENST00000535355.6:c.510-148C>G	ENSP00000441445.1:n.510-148C>G
ENST00000537245.6:c.414-148C>G	ENSP00000439625.2:n.414-148C>G
ENST00000673471.2:c.600-148C>G	ENSP00000500749.1:n.600-148C>G
ENST00000674790.1:c.*515-148C>G	ENSP00000502815.1:n.*515-148C>G
ENST00000675093.1:c.303-148C>G	ENSP00000502687.1:n.303-148C>G
ENST00000675123.1:c.303-148C>G	ENSP00000502132.1:n.303-148C>G
ENST00000675548.1:c.*131-148C>G	ENSP00000502684.1:n.*131-148C>G
ENST00000675694.1:c.303-148C>G	ENSP00000501925.1:n.303-148C>G
ENST00000676255.1:c.226C>G	ENSP00000502459.1:n.226C>G
ENST00000676287.1:c.303-148C>G	ENSP00000502810.1:n.303-148C>G
ENST00000340850.9:c.303-148C>G	ENSP00000344570.5:n.303-148C>G
ENST00000377725.5:c.303-148C>G	ENSP00000366954.1:n.303-148C>G
ENST00000377728.7:c.303-148C>G	ENSP00000366957.3:n.303-148C>G
ENST00000377732.5:c.414-148C>G	ENSP00000366961.1:n.414-148C>G
ENST00000377740.4:c.534-148C>G	ENSP00000366969.3:n.534-148C>G
ENST00000377748.5:c.534-148C>G	ENSP00000366977.1:n.534-148C>G
ENST00000400913.5:c.303-148C>G	ENSP00000383704.1:n.303-148C>G
ENST00000400915.7:c.471-148C>G	ENSP00000383706.3:n.471-148C>G
ENST00000489097.5:n.631C>G
ENST00000535355.5:c.510-148C>G	ENSP00000441445.1:n.510-148C>G
ENST00000537245.5:c.540-148C>G	ENSP00000439625.1:n.540-148C>G
NM_001042663.1:c.471-148C>G	NP_001036128.1:n.471-148C>G
NM_001042664.1:c.303-148C>G	NP_001036129.1:n.303-148C>G
NM_001042665.1:c.303-148C>G	NP_001036130.1:n.303-148C>G
NM_001265592.1:c.540-148C>G	NP_001252521.1:n.540-148C>G
NM_001265593.1:c.510-148C>G	NP_001252522.1:n.510-148C>G
NM_001265594.1:c.303-148C>G	NP_001252523.1:n.303-148C>G
NM_020631.4:c.303-148C>G	NP_065682.2:n.303-148C>G
NM_198681.3:c.534-148C>G	NP_941374.2:n.534-148C>G
NM_001042663.2:c.471-148C>G	NP_001036128.1:n.471-148C>G
NM_001265594.2:c.303-148C>G	NP_001252523.1:n.303-148C>G
NM_020631.5:c.303-148C>G	NP_065682.2:n.303-148C>G
NM_001042663.3:c.414-148C>G	NP_001036128.2:n.414-148C>G
NM_001265592.2:c.414-148C>G	NP_001252521.2:n.414-148C>G
NM_020631.6:c.303-148C>G MANE Select	NP_065682.2:n.303-148C>G
NM_198681.4:c.303-148C>G	NP_941374.3:n.303-148C>G