Canonical Allele Identifier: CA338125834

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1644539429
• gnomAD v3: 1-6470615-T-C
• gnomAD v4: 1-6470615-T-C
• MyVariant Identifiers: chr1:g.6530675T>C (hg19) ; chr1:g.6470615T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470615T>C , CM000663.2:g.6470615T>C	GRCh38
NC_000001.10:g.6530675T>C , CM000663.1:g.6530675T>C	GRCh37
NC_000001.9:g.6453262T>C	NCBI36
NG_007978.1:g.54395A>G , LRG_262:g.54395A>G
NG_029910.1:g.581A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1571A>G	ENSP00000344570.5:p.His524Arg
ENST00000377728.8:c.1571A>G MANE Select	ENSP00000366957.3:p.His524Arg
ENST00000377740.5:c.1571A>G	ENSP00000366969.4:p.His524Arg
ENST00000377748.6:c.1745A>G	ENSP00000366977.2:p.His582Arg
ENST00000400913.6:c.1571A>G	ENSP00000383704.1:p.His524Arg
ENST00000400915.8:c.1682A>G	ENSP00000383706.4:p.His561Arg
ENST00000489097.6:n.2047A>G
ENST00000535355.6:c.1778A>G	ENSP00000441445.1:p.His593Arg
ENST00000537245.6:c.1682A>G	ENSP00000439625.2:p.His561Arg
ENST00000673471.2:c.1868A>G	ENSP00000500749.1:p.His623Arg
ENST00000674790.1:c.*1783A>G	ENSP00000502815.1:n.*1783A>G
ENST00000674943.1:n.233A>G
ENST00000675123.1:c.1571A>G	ENSP00000502132.1:p.His524Arg
ENST00000675548.1:c.*1399A>G	ENSP00000502684.1:n.*1399A>G
ENST00000675694.1:c.1571A>G	ENSP00000501925.1:p.His524Arg
ENST00000676401.1:n.118A>G
ENST00000340850.9:c.1571A>G	ENSP00000344570.5:p.His524Arg
ENST00000377725.5:c.1571A>G	ENSP00000366954.1:p.His524Arg
ENST00000377728.7:c.1571A>G	ENSP00000366957.3:p.His524Arg
ENST00000377732.5:c.1682A>G	ENSP00000366961.1:p.His561Arg
ENST00000377740.4:c.1802A>G	ENSP00000366969.3:p.His601Arg
ENST00000377748.5:c.1802A>G	ENSP00000366977.1:p.His601Arg
ENST00000400913.5:c.1571A>G	ENSP00000383704.1:p.His524Arg
ENST00000400915.7:c.1739A>G	ENSP00000383706.3:p.His580Arg
ENST00000487949.4:n.773A>G
ENST00000489097.5:n.2047A>G
ENST00000535355.5:c.1778A>G	ENSP00000441445.1:p.His593Arg
ENST00000537245.5:c.1808A>G	ENSP00000439625.1:p.His603Arg
NM_001042663.1:c.1739A>G	NP_001036128.1:p.His580Arg
NM_001042664.1:c.1571A>G	NP_001036129.1:p.His524Arg
NM_001042665.1:c.1571A>G	NP_001036130.1:p.His524Arg
NM_001265592.1:c.1808A>G	NP_001252521.1:p.His603Arg
NM_001265593.1:c.1778A>G	NP_001252522.1:p.His593Arg
NM_001265594.1:c.1571A>G	NP_001252523.1:p.His524Arg
NM_020631.4:c.1571A>G	NP_065682.2:p.His524Arg
NM_198681.3:c.1802A>G	NP_941374.2:p.His601Arg
NM_001042663.2:c.1739A>G	NP_001036128.1:p.His580Arg
NM_001265594.2:c.1571A>G	NP_001252523.1:p.His524Arg
NM_020631.5:c.1571A>G	NP_065682.2:p.His524Arg
NM_001042663.3:c.1682A>G	NP_001036128.2:p.His561Arg
NM_001265592.2:c.1682A>G	NP_001252521.2:p.His561Arg
NM_020631.6:c.1571A>G MANE Select	NP_065682.2:p.His524Arg
NM_198681.4:c.1571A>G	NP_941374.3:p.His524Arg