Canonical Allele Identifier: CA561491
Gene: PLEKHG5 HGNC NCBI

Linked Data

dbSNP Id: rs750409908
gnomAD v2: 1-6530797-T-C
gnomAD v3: 1-6470737-T-C
gnomAD v4: 1-6470737-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6470737T>C , CM000663.2:g.6470737T>C GRCh38
NC_000001.10:g.6530797T>C , CM000663.1:g.6530797T>C GRCh37
NC_000001.9:g.6453384T>C NCBI36
NG_007978.1:g.54273A>G , LRG_262:g.54273A>G
NG_029910.1:g.459A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.1540A>G ENSP00000344570.5:p.Met514Val
ENST00000377728.8:c.1540A>G MANE Select ENSP00000366957.3:p.Met514Val
ENST00000377740.5:c.1540A>G ENSP00000366969.4:p.Met514Val
ENST00000377748.6:c.1714A>G ENSP00000366977.2:p.Met572Val
ENST00000400913.6:c.1540A>G ENSP00000383704.1:p.Met514Val
ENST00000400915.8:c.1651A>G ENSP00000383706.4:p.Met551Val
ENST00000489097.6:n.2016A>G
ENST00000535355.6:c.1747A>G ENSP00000441445.1:p.Met583Val
ENST00000537245.6:c.1651A>G ENSP00000439625.2:p.Met551Val
ENST00000673471.2:c.1837A>G ENSP00000500749.1:p.Met613Val
ENST00000674685.1:n.573A>G
ENST00000674790.1:c.*1752A>G ENSP00000502815.1:n.*1752A>G
ENST00000674943.1:n.202A>G
ENST00000675123.1:c.1540A>G ENSP00000502132.1:p.Met514Val
ENST00000675548.1:c.*1368A>G ENSP00000502684.1:n.*1368A>G
ENST00000675694.1:c.1540A>G ENSP00000501925.1:p.Met514Val
ENST00000340850.9:c.1540A>G ENSP00000344570.5:p.Met514Val
ENST00000377725.5:c.1540A>G ENSP00000366954.1:p.Met514Val
ENST00000377728.7:c.1540A>G ENSP00000366957.3:p.Met514Val
ENST00000377732.5:c.1651A>G ENSP00000366961.1:p.Met551Val
ENST00000377740.4:c.1771A>G ENSP00000366969.3:p.Met591Val
ENST00000377748.5:c.1771A>G ENSP00000366977.1:p.Met591Val
ENST00000400913.5:c.1540A>G ENSP00000383704.1:p.Met514Val
ENST00000400915.7:c.1708A>G ENSP00000383706.3:p.Met570Val
ENST00000487949.4:n.742A>G
ENST00000489097.5:n.2016A>G
ENST00000535355.5:c.1747A>G ENSP00000441445.1:p.Met583Val
ENST00000537245.5:c.1777A>G ENSP00000439625.1:p.Met593Val
NM_001042663.1:c.1708A>G NP_001036128.1:p.Met570Val
NM_001042664.1:c.1540A>G NP_001036129.1:p.Met514Val
NM_001042665.1:c.1540A>G NP_001036130.1:p.Met514Val
NM_001265592.1:c.1777A>G NP_001252521.1:p.Met593Val
NM_001265593.1:c.1747A>G NP_001252522.1:p.Met583Val
NM_001265594.1:c.1540A>G NP_001252523.1:p.Met514Val
NM_020631.4:c.1540A>G NP_065682.2:p.Met514Val
NM_198681.3:c.1771A>G NP_941374.2:p.Met591Val
NM_001042663.2:c.1708A>G NP_001036128.1:p.Met570Val
NM_001265594.2:c.1540A>G NP_001252523.1:p.Met514Val
NM_020631.5:c.1540A>G NP_065682.2:p.Met514Val
NM_001042663.3:c.1651A>G NP_001036128.2:p.Met551Val
NM_001265592.2:c.1651A>G NP_001252521.2:p.Met551Val
NM_020631.6:c.1540A>G MANE Select NP_065682.2:p.Met514Val
NM_198681.4:c.1540A>G NP_941374.3:p.Met514Val