Canonical Allele Identifier: CA338138699

Gene: PLEKHG5

Linked Data

• MyVariant Identifiers: chr1:g.6534158A>G (hg19) ; chr1:g.6474098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474098A>G , CM000663.2:g.6474098A>G	GRCh38
NC_000001.10:g.6534158A>G , CM000663.1:g.6534158A>G	GRCh37
NC_000001.9:g.6456745A>G	NCBI36
NG_007978.1:g.50912T>C , LRG_262:g.50912T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.506T>C	ENSP00000344570.5:p.Leu169Ser
ENST00000377728.8:c.506T>C MANE Select	ENSP00000366957.3:p.Leu169Ser
ENST00000377740.5:c.506T>C	ENSP00000366969.4:p.Leu169Ser
ENST00000377748.6:c.680T>C	ENSP00000366977.2:p.Leu227Ser
ENST00000400913.6:c.506T>C	ENSP00000383704.1:p.Leu169Ser
ENST00000400915.8:c.617T>C	ENSP00000383706.4:p.Leu206Ser
ENST00000489097.6:n.982T>C
ENST00000535355.6:c.713T>C	ENSP00000441445.1:p.Leu238Ser
ENST00000537245.6:c.617T>C	ENSP00000439625.2:p.Leu206Ser
ENST00000673471.2:c.803T>C	ENSP00000500749.1:p.Leu268Ser
ENST00000674790.1:c.*718T>C	ENSP00000502815.1:n.*718T>C
ENST00000675123.1:c.506T>C	ENSP00000502132.1:p.Leu169Ser
ENST00000675548.1:c.*334T>C	ENSP00000502684.1:n.*334T>C
ENST00000675694.1:c.506T>C	ENSP00000501925.1:p.Leu169Ser
ENST00000340850.9:c.506T>C	ENSP00000344570.5:p.Leu169Ser
ENST00000377725.5:c.506T>C	ENSP00000366954.1:p.Leu169Ser
ENST00000377728.7:c.506T>C	ENSP00000366957.3:p.Leu169Ser
ENST00000377732.5:c.617T>C	ENSP00000366961.1:p.Leu206Ser
ENST00000377740.4:c.737T>C	ENSP00000366969.3:p.Leu246Ser
ENST00000377748.5:c.737T>C	ENSP00000366977.1:p.Leu246Ser
ENST00000400913.5:c.506T>C	ENSP00000383704.1:p.Leu169Ser
ENST00000400915.7:c.674T>C	ENSP00000383706.3:p.Leu225Ser
ENST00000489097.5:n.982T>C
ENST00000535355.5:c.713T>C	ENSP00000441445.1:p.Leu238Ser
ENST00000537245.5:c.743T>C	ENSP00000439625.1:p.Leu248Ser
NM_001042663.1:c.674T>C	NP_001036128.1:p.Leu225Ser
NM_001042664.1:c.506T>C	NP_001036129.1:p.Leu169Ser
NM_001042665.1:c.506T>C	NP_001036130.1:p.Leu169Ser
NM_001265592.1:c.743T>C	NP_001252521.1:p.Leu248Ser
NM_001265593.1:c.713T>C	NP_001252522.1:p.Leu238Ser
NM_001265594.1:c.506T>C	NP_001252523.1:p.Leu169Ser
NM_020631.4:c.506T>C	NP_065682.2:p.Leu169Ser
NM_198681.3:c.737T>C	NP_941374.2:p.Leu246Ser
NM_001042663.2:c.674T>C	NP_001036128.1:p.Leu225Ser
NM_001265594.2:c.506T>C	NP_001252523.1:p.Leu169Ser
NM_020631.5:c.506T>C	NP_065682.2:p.Leu169Ser
NM_001042663.3:c.617T>C	NP_001036128.2:p.Leu206Ser
NM_001265592.2:c.617T>C	NP_001252521.2:p.Leu206Ser
NM_020631.6:c.506T>C MANE Select	NP_065682.2:p.Leu169Ser
NM_198681.4:c.506T>C	NP_941374.3:p.Leu169Ser