Canonical Allele Identifier: CA338114302

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 857657
• ClinVar RCV Id: RCV001063378
• dbSNP Id: rs1320979244
• gnomAD v4: 1-6467957-A-C
• MyVariant Identifiers: chr1:g.6528017A>C (hg19) ; chr1:g.6467957A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6467957A>C , CM000663.2:g.6467957A>C	GRCh38
NC_000001.10:g.6528017A>C , CM000663.1:g.6528017A>C	GRCh37
NC_000001.9:g.6450604A>C	NCBI36
NG_007978.1:g.57053T>G , LRG_262:g.57053T>G
NG_029910.1:g.3239T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2879T>G	ENSP00000344570.5:p.Leu960Arg
ENST00000377728.8:c.2879T>G MANE Select	ENSP00000366957.3:p.Leu960Arg
ENST00000377740.5:c.2879T>G	ENSP00000366969.4:p.Leu960Arg
ENST00000377748.6:c.3053T>G	ENSP00000366977.2:p.Leu1018Arg
ENST00000400913.6:c.2879T>G	ENSP00000383704.1:p.Leu960Arg
ENST00000400915.8:c.2990T>G	ENSP00000383706.4:p.Leu997Arg
ENST00000489097.6:n.3355T>G
ENST00000535355.6:c.3086T>G	ENSP00000441445.1:p.Leu1029Arg
ENST00000537245.6:c.2990T>G	ENSP00000439625.2:p.Leu997Arg
ENST00000673471.2:c.3176T>G	ENSP00000500749.1:p.Leu1059Arg
ENST00000674790.1:c.*3091T>G	ENSP00000502815.1:n.*3091T>G
ENST00000675123.1:c.2250-64T>G	ENSP00000502132.1:n.2250-64T>G
ENST00000675548.1:c.*2707T>G	ENSP00000502684.1:n.*2707T>G
ENST00000675694.1:c.2879T>G	ENSP00000501925.1:p.Leu960Arg
ENST00000675976.1:c.752T>G	ENSP00000501611.1:p.Leu251Arg
ENST00000340850.9:c.2879T>G	ENSP00000344570.5:p.Leu960Arg
ENST00000377725.5:c.2738-59T>G	ENSP00000366954.1:n.2738-59T>G
ENST00000377728.7:c.2879T>G	ENSP00000366957.3:p.Leu960Arg
ENST00000377732.5:c.2990T>G	ENSP00000366961.1:p.Leu997Arg
ENST00000377740.4:c.2481-64T>G	ENSP00000366969.3:n.2481-64T>G
ENST00000377748.5:c.3110T>G	ENSP00000366977.1:p.Leu1037Arg
ENST00000400913.5:c.2879T>G	ENSP00000383704.1:p.Leu960Arg
ENST00000400915.7:c.3047T>G	ENSP00000383706.3:p.Leu1016Arg
ENST00000487949.4:n.2081T>G
ENST00000489097.5:n.3355T>G
ENST00000535355.5:c.3086T>G	ENSP00000441445.1:p.Leu1029Arg
ENST00000537245.5:c.3116T>G	ENSP00000439625.1:p.Leu1039Arg
NM_001042663.1:c.3047T>G	NP_001036128.1:p.Leu1016Arg
NM_001042664.1:c.2879T>G	NP_001036129.1:p.Leu960Arg
NM_001042665.1:c.2879T>G	NP_001036130.1:p.Leu960Arg
NM_001265592.1:c.3116T>G	NP_001252521.1:p.Leu1039Arg
NM_001265593.1:c.3086T>G	NP_001252522.1:p.Leu1029Arg
NM_001265594.1:c.2738-59T>G	NP_001252523.1:n.2738-59T>G
NM_020631.4:c.2879T>G	NP_065682.2:p.Leu960Arg
NM_198681.3:c.3110T>G	NP_941374.2:p.Leu1037Arg
NM_001042663.2:c.3047T>G	NP_001036128.1:p.Leu1016Arg
NM_001265594.2:c.2738-59T>G	NP_001252523.1:n.2738-59T>G
NM_020631.5:c.2879T>G	NP_065682.2:p.Leu960Arg
NM_001042663.3:c.2990T>G	NP_001036128.2:p.Leu997Arg
NM_001265592.2:c.2990T>G	NP_001252521.2:p.Leu997Arg
NM_020631.6:c.2879T>G MANE Select	NP_065682.2:p.Leu960Arg
NM_198681.4:c.2879T>G	NP_941374.3:p.Leu960Arg