Canonical Allele Identifier: CA415834182
Gene: PLEKHG5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6534638C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474578C>A , CM000663.2:g.6474578C>A GRCh38
NC_000001.10:g.6534638C>A , CM000663.1:g.6534638C>A GRCh37
NC_000001.9:g.6457225C>A NCBI36
NG_007978.1:g.50432G>T , LRG_262:g.50432G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.312G>T ENSP00000344570.5:p.Leu104=
ENST00000377728.8:c.312G>T MANE Select ENSP00000366957.3:p.Leu104=
ENST00000377740.5:c.312G>T ENSP00000366969.4:p.Leu104=
ENST00000377748.6:c.486G>T ENSP00000366977.2:p.Leu162=
ENST00000400913.6:c.312G>T ENSP00000383704.1:p.Leu104=
ENST00000400915.8:c.423G>T ENSP00000383706.4:p.Leu141=
ENST00000489097.6:n.788G>T
ENST00000535355.6:c.519G>T ENSP00000441445.1:p.Leu173=
ENST00000537245.6:c.423G>T ENSP00000439625.2:p.Leu141=
ENST00000673471.2:c.609G>T ENSP00000500749.1:p.Leu203=
ENST00000674790.1:c.*524G>T ENSP00000502815.1:n.*524G>T
ENST00000675093.1:c.312G>T ENSP00000502687.1:p.Leu104=
ENST00000675123.1:c.312G>T ENSP00000502132.1:p.Leu104=
ENST00000675548.1:c.*140G>T ENSP00000502684.1:n.*140G>T
ENST00000675694.1:c.312G>T ENSP00000501925.1:p.Leu104=
ENST00000676255.1:c.274G>T ENSP00000502459.1:n.274G>T
ENST00000676287.1:c.312G>T ENSP00000502810.1:p.Leu104=
ENST00000340850.9:c.312G>T ENSP00000344570.5:p.Leu104=
ENST00000377725.5:c.312G>T ENSP00000366954.1:p.Leu104=
ENST00000377728.7:c.312G>T ENSP00000366957.3:p.Leu104=
ENST00000377732.5:c.423G>T ENSP00000366961.1:p.Leu141=
ENST00000377740.4:c.543G>T ENSP00000366969.3:p.Leu181=
ENST00000377748.5:c.543G>T ENSP00000366977.1:p.Leu181=
ENST00000400913.5:c.312G>T ENSP00000383704.1:p.Leu104=
ENST00000400915.7:c.480G>T ENSP00000383706.3:p.Leu160=
ENST00000489097.5:n.788G>T
ENST00000535355.5:c.519G>T ENSP00000441445.1:p.Leu173=
ENST00000537245.5:c.549G>T ENSP00000439625.1:p.Leu183=
NM_001042663.1:c.480G>T NP_001036128.1:p.Leu160=
NM_001042664.1:c.312G>T NP_001036129.1:p.Leu104=
NM_001042665.1:c.312G>T NP_001036130.1:p.Leu104=
NM_001265592.1:c.549G>T NP_001252521.1:p.Leu183=
NM_001265593.1:c.519G>T NP_001252522.1:p.Leu173=
NM_001265594.1:c.312G>T NP_001252523.1:p.Leu104=
NM_020631.4:c.312G>T NP_065682.2:p.Leu104=
NM_198681.3:c.543G>T NP_941374.2:p.Leu181=
NM_001042663.2:c.480G>T NP_001036128.1:p.Leu160=
NM_001265594.2:c.312G>T NP_001252523.1:p.Leu104=
NM_020631.5:c.312G>T NP_065682.2:p.Leu104=
NM_001042663.3:c.423G>T NP_001036128.2:p.Leu141=
NM_001265592.2:c.423G>T NP_001252521.2:p.Leu141=
NM_020631.6:c.312G>T MANE Select NP_065682.2:p.Leu104=
NM_198681.4:c.312G>T NP_941374.3:p.Leu104=