Canonical Allele Identifier: CA415834096
Gene: PLEKHG5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6534518A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474458A>C , CM000663.2:g.6474458A>C GRCh38
NC_000001.10:g.6534518A>C , CM000663.1:g.6534518A>C GRCh37
NC_000001.9:g.6457105A>C NCBI36
NG_007978.1:g.50552T>G , LRG_262:g.50552T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.432T>G ENSP00000344570.5:p.Arg144=
ENST00000377728.8:c.432T>G MANE Select ENSP00000366957.3:p.Arg144=
ENST00000377740.5:c.432T>G ENSP00000366969.4:p.Arg144=
ENST00000377748.6:c.606T>G ENSP00000366977.2:p.Arg202=
ENST00000400913.6:c.432T>G ENSP00000383704.1:p.Arg144=
ENST00000400915.8:c.543T>G ENSP00000383706.4:p.Arg181=
ENST00000489097.6:n.908T>G
ENST00000535355.6:c.639T>G ENSP00000441445.1:p.Arg213=
ENST00000537245.6:c.543T>G ENSP00000439625.2:p.Arg181=
ENST00000673471.2:c.729T>G ENSP00000500749.1:p.Arg243=
ENST00000674790.1:c.*644T>G ENSP00000502815.1:n.*644T>G
ENST00000675123.1:c.432T>G ENSP00000502132.1:p.Arg144=
ENST00000675548.1:c.*260T>G ENSP00000502684.1:n.*260T>G
ENST00000675694.1:c.432T>G ENSP00000501925.1:p.Arg144=
ENST00000676255.1:c.394T>G ENSP00000502459.1:n.394T>G
ENST00000340850.9:c.432T>G ENSP00000344570.5:p.Arg144=
ENST00000377725.5:c.432T>G ENSP00000366954.1:p.Arg144=
ENST00000377728.7:c.432T>G ENSP00000366957.3:p.Arg144=
ENST00000377732.5:c.543T>G ENSP00000366961.1:p.Arg181=
ENST00000377740.4:c.663T>G ENSP00000366969.3:p.Arg221=
ENST00000377748.5:c.663T>G ENSP00000366977.1:p.Arg221=
ENST00000400913.5:c.432T>G ENSP00000383704.1:p.Arg144=
ENST00000400915.7:c.600T>G ENSP00000383706.3:p.Arg200=
ENST00000489097.5:n.908T>G
ENST00000535355.5:c.639T>G ENSP00000441445.1:p.Arg213=
ENST00000537245.5:c.669T>G ENSP00000439625.1:p.Arg223=
NM_001042663.1:c.600T>G NP_001036128.1:p.Arg200=
NM_001042664.1:c.432T>G NP_001036129.1:p.Arg144=
NM_001042665.1:c.432T>G NP_001036130.1:p.Arg144=
NM_001265592.1:c.669T>G NP_001252521.1:p.Arg223=
NM_001265593.1:c.639T>G NP_001252522.1:p.Arg213=
NM_001265594.1:c.432T>G NP_001252523.1:p.Arg144=
NM_020631.4:c.432T>G NP_065682.2:p.Arg144=
NM_198681.3:c.663T>G NP_941374.2:p.Arg221=
NM_001042663.2:c.600T>G NP_001036128.1:p.Arg200=
NM_001265594.2:c.432T>G NP_001252523.1:p.Arg144=
NM_020631.5:c.432T>G NP_065682.2:p.Arg144=
NM_001042663.3:c.543T>G NP_001036128.2:p.Arg181=
NM_001265592.2:c.543T>G NP_001252521.2:p.Arg181=
NM_020631.6:c.432T>G MANE Select NP_065682.2:p.Arg144=
NM_198681.4:c.432T>G NP_941374.3:p.Arg144=