Canonical Allele Identifier: CA338133178

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 493018
• ClinVar RCV Id: RCV000585110 ; RCV002530829 ; RCV002248805 ; RCV002289881
• dbSNP Id: rs1553174566
• MyVariant Identifiers: chr1:g.6532684T>C (hg19) ; chr1:g.6472624T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6472624T>C , CM000663.2:g.6472624T>C	GRCh38
NC_000001.10:g.6532684T>C , CM000663.1:g.6532684T>C	GRCh37
NC_000001.9:g.6455271T>C	NCBI36
NG_007978.1:g.52386A>G , LRG_262:g.52386A>G

Transcript Alleles

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