Canonical Allele Identifier: CA520765940

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1225849474
• gnomAD v2: 1-6532714-G-A
• MyVariant Identifiers: chr1:g.6532714G>A (hg19) ; chr1:g.6472654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6472654G>A , CM000663.2:g.6472654G>A	GRCh38
NC_000001.10:g.6532714G>A , CM000663.1:g.6532714G>A	GRCh37
NC_000001.9:g.6455301G>A	NCBI36
NG_007978.1:g.52356C>T , LRG_262:g.52356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.985-32C>T	ENSP00000344570.5:n.985-32C>T
ENST00000377728.8:c.985-32C>T MANE Select	ENSP00000366957.3:n.985-32C>T
ENST00000377740.5:c.985-32C>T	ENSP00000366969.4:n.985-32C>T
ENST00000377748.6:c.1159-32C>T	ENSP00000366977.2:n.1159-32C>T
ENST00000400913.6:c.985-32C>T	ENSP00000383704.1:n.985-32C>T
ENST00000400915.8:c.1096-32C>T	ENSP00000383706.4:n.1096-32C>T
ENST00000489097.6:n.1461-32C>T
ENST00000535355.6:c.1192-32C>T	ENSP00000441445.1:n.1192-32C>T
ENST00000537245.6:c.1096-32C>T	ENSP00000439625.2:n.1096-32C>T
ENST00000673471.2:c.1282-32C>T	ENSP00000500749.1:n.1282-32C>T
ENST00000674790.1:c.*1197-32C>T	ENSP00000502815.1:n.*1197-32C>T
ENST00000675123.1:c.985-32C>T	ENSP00000502132.1:n.985-32C>T
ENST00000675548.1:c.*813-32C>T	ENSP00000502684.1:n.*813-32C>T
ENST00000675694.1:c.985-32C>T	ENSP00000501925.1:n.985-32C>T
ENST00000340850.9:c.985-32C>T	ENSP00000344570.5:n.985-32C>T
ENST00000377725.5:c.985-32C>T	ENSP00000366954.1:n.985-32C>T
ENST00000377728.7:c.985-32C>T	ENSP00000366957.3:n.985-32C>T
ENST00000377732.5:c.1096-32C>T	ENSP00000366961.1:n.1096-32C>T
ENST00000377740.4:c.1216-32C>T	ENSP00000366969.3:n.1216-32C>T
ENST00000377748.5:c.1216-32C>T	ENSP00000366977.1:n.1216-32C>T
ENST00000400913.5:c.985-32C>T	ENSP00000383704.1:n.985-32C>T
ENST00000400915.7:c.1153-32C>T	ENSP00000383706.3:n.1153-32C>T
ENST00000489097.5:n.1461-32C>T
ENST00000535355.5:c.1192-32C>T	ENSP00000441445.1:n.1192-32C>T
ENST00000537245.5:c.1222-32C>T	ENSP00000439625.1:n.1222-32C>T
NM_001042663.1:c.1153-32C>T	NP_001036128.1:n.1153-32C>T
NM_001042664.1:c.985-32C>T	NP_001036129.1:n.985-32C>T
NM_001042665.1:c.985-32C>T	NP_001036130.1:n.985-32C>T
NM_001265592.1:c.1222-32C>T	NP_001252521.1:n.1222-32C>T
NM_001265593.1:c.1192-32C>T	NP_001252522.1:n.1192-32C>T
NM_001265594.1:c.985-32C>T	NP_001252523.1:n.985-32C>T
NM_020631.4:c.985-32C>T	NP_065682.2:n.985-32C>T
NM_198681.3:c.1216-32C>T	NP_941374.2:n.1216-32C>T
NM_001042663.2:c.1153-32C>T	NP_001036128.1:n.1153-32C>T
NM_001265594.2:c.985-32C>T	NP_001252523.1:n.985-32C>T
NM_020631.5:c.985-32C>T	NP_065682.2:n.985-32C>T
NM_001042663.3:c.1096-32C>T	NP_001036128.2:n.1096-32C>T
NM_001265592.2:c.1096-32C>T	NP_001252521.2:n.1096-32C>T
NM_020631.6:c.985-32C>T MANE Select	NP_065682.2:n.985-32C>T
NM_198681.4:c.985-32C>T	NP_941374.3:n.985-32C>T