Canonical Allele Identifier: CA561124
Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 235230
dbSNP Id: rs3007419
gnomAD v2: 1-6528302-T-C
gnomAD v3: 1-6468242-T-C
gnomAD v4: 1-6468242-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6468242T>C , CM000663.2:g.6468242T>C GRCh38
NC_000001.10:g.6528302T>C , CM000663.1:g.6528302T>C GRCh37
NC_000001.9:g.6450889T>C NCBI36
NG_007978.1:g.56768A>G , LRG_262:g.56768A>G
NG_029910.1:g.2954A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340850.10:c.2594A>G ENSP00000344570.5:p.Gln865Arg
ENST00000377728.8:c.2594A>G MANE Select ENSP00000366957.3:p.Gln865Arg
ENST00000377740.5:c.2594A>G ENSP00000366969.4:p.Gln865Arg
ENST00000377748.6:c.2768A>G ENSP00000366977.2:p.Gln923Arg
ENST00000400913.6:c.2594A>G ENSP00000383704.1:p.Gln865Arg
ENST00000400915.8:c.2705A>G ENSP00000383706.4:p.Gln902Arg
ENST00000489097.6:n.3070A>G
ENST00000535355.6:c.2801A>G ENSP00000441445.1:p.Gln934Arg
ENST00000537245.6:c.2705A>G ENSP00000439625.2:p.Gln902Arg
ENST00000673471.2:c.2891A>G ENSP00000500749.1:p.Gln964Arg
ENST00000674790.1:c.*2806A>G ENSP00000502815.1:n.*2806A>G
ENST00000675123.1:c.2250-349A>G ENSP00000502132.1:n.2250-349A>G
ENST00000675548.1:c.*2422A>G ENSP00000502684.1:n.*2422A>G
ENST00000675694.1:c.2594A>G ENSP00000501925.1:p.Gln865Arg
ENST00000675976.1:c.467A>G ENSP00000501611.1:p.Gln156Arg
ENST00000340850.9:c.2594A>G ENSP00000344570.5:p.Gln865Arg
ENST00000377725.5:c.2594A>G ENSP00000366954.1:p.Gln865Arg
ENST00000377728.7:c.2594A>G ENSP00000366957.3:p.Gln865Arg
ENST00000377732.5:c.2705A>G ENSP00000366961.1:p.Gln902Arg
ENST00000377740.4:c.2481-349A>G ENSP00000366969.3:n.2481-349A>G
ENST00000377748.5:c.2825A>G ENSP00000366977.1:p.Gln942Arg
ENST00000400913.5:c.2594A>G ENSP00000383704.1:p.Gln865Arg
ENST00000400915.7:c.2762A>G ENSP00000383706.3:p.Gln921Arg
ENST00000487949.4:n.1796A>G
ENST00000489097.5:n.3070A>G
ENST00000535355.5:c.2801A>G ENSP00000441445.1:p.Gln934Arg
ENST00000537245.5:c.2831A>G ENSP00000439625.1:p.Gln944Arg
NM_001042663.1:c.2762A>G NP_001036128.1:p.Gln921Arg
NM_001042664.1:c.2594A>G NP_001036129.1:p.Gln865Arg
NM_001042665.1:c.2594A>G NP_001036130.1:p.Gln865Arg
NM_001265592.1:c.2831A>G NP_001252521.1:p.Gln944Arg
NM_001265593.1:c.2801A>G NP_001252522.1:p.Gln934Arg
NM_001265594.1:c.2594A>G NP_001252523.1:p.Gln865Arg
NM_020631.4:c.2594A>G NP_065682.2:p.Gln865Arg
NM_198681.3:c.2825A>G NP_941374.2:p.Gln942Arg
NM_001042663.2:c.2762A>G NP_001036128.1:p.Gln921Arg
NM_001265594.2:c.2594A>G NP_001252523.1:p.Gln865Arg
NM_020631.5:c.2594A>G NP_065682.2:p.Gln865Arg
NM_001042663.3:c.2705A>G NP_001036128.2:p.Gln902Arg
NM_001265592.2:c.2705A>G NP_001252521.2:p.Gln902Arg
NM_020631.6:c.2594A>G MANE Select NP_065682.2:p.Gln865Arg
NM_198681.4:c.2594A>G NP_941374.3:p.Gln865Arg