Canonical Allele Identifier: CA561438
Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2922005
ClinVar RCV Id: RCV003783027
dbSNP Id: rs775517465
gnomAD v2: 1-6530602-G-A
gnomAD v4: 1-6470542-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6470542G>A , CM000663.2:g.6470542G>A GRCh38
NC_000001.10:g.6530602G>A , CM000663.1:g.6530602G>A GRCh37
NC_000001.9:g.6453189G>A NCBI36
NG_007978.1:g.54468C>T , LRG_262:g.54468C>T
NG_029910.1:g.654C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.1644C>T ENSP00000344570.5:p.Tyr548=
ENST00000377728.8:c.1644C>T MANE Select ENSP00000366957.3:p.Tyr548=
ENST00000377740.5:c.1644C>T ENSP00000366969.4:p.Tyr548=
ENST00000377748.6:c.1818C>T ENSP00000366977.2:p.Tyr606=
ENST00000400913.6:c.1644C>T ENSP00000383704.1:p.Tyr548=
ENST00000400915.8:c.1755C>T ENSP00000383706.4:p.Tyr585=
ENST00000489097.6:n.2120C>T
ENST00000535355.6:c.1851C>T ENSP00000441445.1:p.Tyr617=
ENST00000537245.6:c.1755C>T ENSP00000439625.2:p.Tyr585=
ENST00000673471.2:c.1941C>T ENSP00000500749.1:p.Tyr647=
ENST00000674790.1:c.*1856C>T ENSP00000502815.1:n.*1856C>T
ENST00000674943.1:n.306C>T
ENST00000675123.1:c.1644C>T ENSP00000502132.1:p.Tyr548=
ENST00000675548.1:c.*1472C>T ENSP00000502684.1:n.*1472C>T
ENST00000675694.1:c.1644C>T ENSP00000501925.1:p.Tyr548=
ENST00000676401.1:n.191C>T
ENST00000340850.9:c.1644C>T ENSP00000344570.5:p.Tyr548=
ENST00000377725.5:c.1644C>T ENSP00000366954.1:p.Tyr548=
ENST00000377728.7:c.1644C>T ENSP00000366957.3:p.Tyr548=
ENST00000377732.5:c.1755C>T ENSP00000366961.1:p.Tyr585=
ENST00000377740.4:c.1875C>T ENSP00000366969.3:p.Tyr625=
ENST00000377748.5:c.1875C>T ENSP00000366977.1:p.Tyr625=
ENST00000400913.5:c.1644C>T ENSP00000383704.1:p.Tyr548=
ENST00000400915.7:c.1812C>T ENSP00000383706.3:p.Tyr604=
ENST00000487949.4:n.846C>T
ENST00000489097.5:n.2120C>T
ENST00000535355.5:c.1851C>T ENSP00000441445.1:p.Tyr617=
ENST00000537245.5:c.1881C>T ENSP00000439625.1:p.Tyr627=
NM_001042663.1:c.1812C>T NP_001036128.1:p.Tyr604=
NM_001042664.1:c.1644C>T NP_001036129.1:p.Tyr548=
NM_001042665.1:c.1644C>T NP_001036130.1:p.Tyr548=
NM_001265592.1:c.1881C>T NP_001252521.1:p.Tyr627=
NM_001265593.1:c.1851C>T NP_001252522.1:p.Tyr617=
NM_001265594.1:c.1644C>T NP_001252523.1:p.Tyr548=
NM_020631.4:c.1644C>T NP_065682.2:p.Tyr548=
NM_198681.3:c.1875C>T NP_941374.2:p.Tyr625=
NM_001042663.2:c.1812C>T NP_001036128.1:p.Tyr604=
NM_001265594.2:c.1644C>T NP_001252523.1:p.Tyr548=
NM_020631.5:c.1644C>T NP_065682.2:p.Tyr548=
NM_001042663.3:c.1755C>T NP_001036128.2:p.Tyr585=
NM_001265592.2:c.1755C>T NP_001252521.2:p.Tyr585=
NM_020631.6:c.1644C>T MANE Select NP_065682.2:p.Tyr548=
NM_198681.4:c.1644C>T NP_941374.3:p.Tyr548=