Canonical Allele Identifier: CA338138714

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1353620
• ClinVar RCV Id: RCV001863508
• dbSNP Id: rs1346810555
• MyVariant Identifiers: chr1:g.6534161C>G (hg19) ; chr1:g.6474101C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474101C>G , CM000663.2:g.6474101C>G	GRCh38
NC_000001.10:g.6534161C>G , CM000663.1:g.6534161C>G	GRCh37
NC_000001.9:g.6456748C>G	NCBI36
NG_007978.1:g.50909G>C , LRG_262:g.50909G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.503G>C	ENSP00000344570.5:p.Ser168Thr
ENST00000377728.8:c.503G>C MANE Select	ENSP00000366957.3:p.Ser168Thr
ENST00000377740.5:c.503G>C	ENSP00000366969.4:p.Ser168Thr
ENST00000377748.6:c.677G>C	ENSP00000366977.2:p.Ser226Thr
ENST00000400913.6:c.503G>C	ENSP00000383704.1:p.Ser168Thr
ENST00000400915.8:c.614G>C	ENSP00000383706.4:p.Ser205Thr
ENST00000489097.6:n.979G>C
ENST00000535355.6:c.710G>C	ENSP00000441445.1:p.Ser237Thr
ENST00000537245.6:c.614G>C	ENSP00000439625.2:p.Ser205Thr
ENST00000673471.2:c.800G>C	ENSP00000500749.1:p.Ser267Thr
ENST00000674790.1:c.*715G>C	ENSP00000502815.1:n.*715G>C
ENST00000675123.1:c.503G>C	ENSP00000502132.1:p.Ser168Thr
ENST00000675548.1:c.*331G>C	ENSP00000502684.1:n.*331G>C
ENST00000675694.1:c.503G>C	ENSP00000501925.1:p.Ser168Thr
ENST00000340850.9:c.503G>C	ENSP00000344570.5:p.Ser168Thr
ENST00000377725.5:c.503G>C	ENSP00000366954.1:p.Ser168Thr
ENST00000377728.7:c.503G>C	ENSP00000366957.3:p.Ser168Thr
ENST00000377732.5:c.614G>C	ENSP00000366961.1:p.Ser205Thr
ENST00000377740.4:c.734G>C	ENSP00000366969.3:p.Ser245Thr
ENST00000377748.5:c.734G>C	ENSP00000366977.1:p.Ser245Thr
ENST00000400913.5:c.503G>C	ENSP00000383704.1:p.Ser168Thr
ENST00000400915.7:c.671G>C	ENSP00000383706.3:p.Ser224Thr
ENST00000489097.5:n.979G>C
ENST00000535355.5:c.710G>C	ENSP00000441445.1:p.Ser237Thr
ENST00000537245.5:c.740G>C	ENSP00000439625.1:p.Ser247Thr
NM_001042663.1:c.671G>C	NP_001036128.1:p.Ser224Thr
NM_001042664.1:c.503G>C	NP_001036129.1:p.Ser168Thr
NM_001042665.1:c.503G>C	NP_001036130.1:p.Ser168Thr
NM_001265592.1:c.740G>C	NP_001252521.1:p.Ser247Thr
NM_001265593.1:c.710G>C	NP_001252522.1:p.Ser237Thr
NM_001265594.1:c.503G>C	NP_001252523.1:p.Ser168Thr
NM_020631.4:c.503G>C	NP_065682.2:p.Ser168Thr
NM_198681.3:c.734G>C	NP_941374.2:p.Ser245Thr
NM_001042663.2:c.671G>C	NP_001036128.1:p.Ser224Thr
NM_001265594.2:c.503G>C	NP_001252523.1:p.Ser168Thr
NM_020631.5:c.503G>C	NP_065682.2:p.Ser168Thr
NM_001042663.3:c.614G>C	NP_001036128.2:p.Ser205Thr
NM_001265592.2:c.614G>C	NP_001252521.2:p.Ser205Thr
NM_020631.6:c.503G>C MANE Select	NP_065682.2:p.Ser168Thr
NM_198681.4:c.503G>C	NP_941374.3:p.Ser168Thr