Canonical Allele Identifier: CA415834092
Gene: PLEKHG5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6534512T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474452T>C , CM000663.2:g.6474452T>C GRCh38
NC_000001.10:g.6534512T>C , CM000663.1:g.6534512T>C GRCh37
NC_000001.9:g.6457099T>C NCBI36
NG_007978.1:g.50558A>G , LRG_262:g.50558A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.438A>G ENSP00000344570.5:p.Lys146=
ENST00000377728.8:c.438A>G MANE Select ENSP00000366957.3:p.Lys146=
ENST00000377740.5:c.438A>G ENSP00000366969.4:p.Lys146=
ENST00000377748.6:c.612A>G ENSP00000366977.2:p.Lys204=
ENST00000400913.6:c.438A>G ENSP00000383704.1:p.Lys146=
ENST00000400915.8:c.549A>G ENSP00000383706.4:p.Lys183=
ENST00000489097.6:n.914A>G
ENST00000535355.6:c.645A>G ENSP00000441445.1:p.Lys215=
ENST00000537245.6:c.549A>G ENSP00000439625.2:p.Lys183=
ENST00000673471.2:c.735A>G ENSP00000500749.1:p.Lys245=
ENST00000674790.1:c.*650A>G ENSP00000502815.1:n.*650A>G
ENST00000675123.1:c.438A>G ENSP00000502132.1:p.Lys146=
ENST00000675548.1:c.*266A>G ENSP00000502684.1:n.*266A>G
ENST00000675694.1:c.438A>G ENSP00000501925.1:p.Lys146=
ENST00000676255.1:c.400A>G ENSP00000502459.1:n.400A>G
ENST00000340850.9:c.438A>G ENSP00000344570.5:p.Lys146=
ENST00000377725.5:c.438A>G ENSP00000366954.1:p.Lys146=
ENST00000377728.7:c.438A>G ENSP00000366957.3:p.Lys146=
ENST00000377732.5:c.549A>G ENSP00000366961.1:p.Lys183=
ENST00000377740.4:c.669A>G ENSP00000366969.3:p.Lys223=
ENST00000377748.5:c.669A>G ENSP00000366977.1:p.Lys223=
ENST00000400913.5:c.438A>G ENSP00000383704.1:p.Lys146=
ENST00000400915.7:c.606A>G ENSP00000383706.3:p.Lys202=
ENST00000489097.5:n.914A>G
ENST00000535355.5:c.645A>G ENSP00000441445.1:p.Lys215=
ENST00000537245.5:c.675A>G ENSP00000439625.1:p.Lys225=
NM_001042663.1:c.606A>G NP_001036128.1:p.Lys202=
NM_001042664.1:c.438A>G NP_001036129.1:p.Lys146=
NM_001042665.1:c.438A>G NP_001036130.1:p.Lys146=
NM_001265592.1:c.675A>G NP_001252521.1:p.Lys225=
NM_001265593.1:c.645A>G NP_001252522.1:p.Lys215=
NM_001265594.1:c.438A>G NP_001252523.1:p.Lys146=
NM_020631.4:c.438A>G NP_065682.2:p.Lys146=
NM_198681.3:c.669A>G NP_941374.2:p.Lys223=
NM_001042663.2:c.606A>G NP_001036128.1:p.Lys202=
NM_001265594.2:c.438A>G NP_001252523.1:p.Lys146=
NM_020631.5:c.438A>G NP_065682.2:p.Lys146=
NM_001042663.3:c.549A>G NP_001036128.2:p.Lys183=
NM_001265592.2:c.549A>G NP_001252521.2:p.Lys183=
NM_020631.6:c.438A>G MANE Select NP_065682.2:p.Lys146=
NM_198681.4:c.438A>G NP_941374.3:p.Lys146=