Canonical Allele Identifier: CA415831924
Gene: PLEKHG5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6529161T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6469101T>G , CM000663.2:g.6469101T>G GRCh38
NC_000001.10:g.6529161T>G , CM000663.1:g.6529161T>G GRCh37
NC_000001.9:g.6451748T>G NCBI36
NG_007978.1:g.55909A>C , LRG_262:g.55909A>C
NG_029910.1:g.2095A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.2190A>C ENSP00000344570.5:p.Ser730=
ENST00000377728.8:c.2190A>C MANE Select ENSP00000366957.3:p.Ser730=
ENST00000377740.5:c.2190A>C ENSP00000366969.4:p.Ser730=
ENST00000377748.6:c.2364A>C ENSP00000366977.2:p.Ser788=
ENST00000400913.6:c.2190A>C ENSP00000383704.1:p.Ser730=
ENST00000400915.8:c.2301A>C ENSP00000383706.4:p.Ser767=
ENST00000489097.6:n.2666A>C
ENST00000535355.6:c.2397A>C ENSP00000441445.1:p.Ser799=
ENST00000537245.6:c.2301A>C ENSP00000439625.2:p.Ser767=
ENST00000673471.2:c.2487A>C ENSP00000500749.1:p.Ser829=
ENST00000674790.1:c.*2402A>C ENSP00000502815.1:n.*2402A>C
ENST00000675123.1:c.2190A>C ENSP00000502132.1:p.Ser730=
ENST00000675139.1:n.261A>C
ENST00000675548.1:c.*2018A>C ENSP00000502684.1:n.*2018A>C
ENST00000675694.1:c.2190A>C ENSP00000501925.1:p.Ser730=
ENST00000675976.1:c.63A>C ENSP00000501611.1:p.Ser21=
ENST00000340850.9:c.2190A>C ENSP00000344570.5:p.Ser730=
ENST00000377725.5:c.2190A>C ENSP00000366954.1:p.Ser730=
ENST00000377728.7:c.2190A>C ENSP00000366957.3:p.Ser730=
ENST00000377732.5:c.2301A>C ENSP00000366961.1:p.Ser767=
ENST00000377740.4:c.2421A>C ENSP00000366969.3:p.Ser807=
ENST00000377748.5:c.2421A>C ENSP00000366977.1:p.Ser807=
ENST00000400913.5:c.2190A>C ENSP00000383704.1:p.Ser730=
ENST00000400915.7:c.2358A>C ENSP00000383706.3:p.Ser786=
ENST00000487949.4:n.1392A>C
ENST00000489097.5:n.2666A>C
ENST00000535355.5:c.2397A>C ENSP00000441445.1:p.Ser799=
ENST00000537245.5:c.2427A>C ENSP00000439625.1:p.Ser809=
NM_001042663.1:c.2358A>C NP_001036128.1:p.Ser786=
NM_001042664.1:c.2190A>C NP_001036129.1:p.Ser730=
NM_001042665.1:c.2190A>C NP_001036130.1:p.Ser730=
NM_001265592.1:c.2427A>C NP_001252521.1:p.Ser809=
NM_001265593.1:c.2397A>C NP_001252522.1:p.Ser799=
NM_001265594.1:c.2190A>C NP_001252523.1:p.Ser730=
NM_020631.4:c.2190A>C NP_065682.2:p.Ser730=
NM_198681.3:c.2421A>C NP_941374.2:p.Ser807=
NM_001042663.2:c.2358A>C NP_001036128.1:p.Ser786=
NM_001265594.2:c.2190A>C NP_001252523.1:p.Ser730=
NM_020631.5:c.2190A>C NP_065682.2:p.Ser730=
NM_001042663.3:c.2301A>C NP_001036128.2:p.Ser767=
NM_001265592.2:c.2301A>C NP_001252521.2:p.Ser767=
NM_020631.6:c.2190A>C MANE Select NP_065682.2:p.Ser730=
NM_198681.4:c.2190A>C NP_941374.3:p.Ser730=