Canonical Allele Identifier: CA338142105

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 2089338
• ClinVar RCV Id: RCV003005500
• gnomAD v4: 1-6477571-T-C
• MyVariant Identifiers: chr1:g.6537631T>C (hg19) ; chr1:g.6477571T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6477571T>C , CM000663.2:g.6477571T>C	GRCh38
NC_000001.10:g.6537631T>C , CM000663.1:g.6537631T>C	GRCh37
NC_000001.9:g.6460218T>C	NCBI36
NG_007978.1:g.47439A>G , LRG_262:g.47439A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1A>G	ENSP00000344570.5:p.Met1Val
ENST00000377728.8:c.1A>G MANE Select	ENSP00000366957.3:p.Met1Val
ENST00000377740.5:c.1A>G	ENSP00000366969.4:p.Met1Val
ENST00000377748.6:c.112A>G	ENSP00000366977.2:p.Met38Val
ENST00000400913.6:c.1A>G	ENSP00000383704.1:p.Met1Val
ENST00000400915.8:c.112A>G	ENSP00000383706.4:p.Met38Val
ENST00000489097.6:n.18A>G
ENST00000535355.6:c.208A>G	ENSP00000441445.1:p.Met70Val
ENST00000537245.6:c.112A>G	ENSP00000439625.2:p.Met38Val
ENST00000673471.2:c.298A>G	ENSP00000500749.1:p.Met100Val
ENST00000674790.1:c.*213A>G	ENSP00000502815.1:n.*213A>G
ENST00000674803.1:n.231A>G
ENST00000675093.1:c.1A>G	ENSP00000502687.1:p.Met1Val
ENST00000675123.1:c.1A>G	ENSP00000502132.1:p.Met1Val
ENST00000675548.1:c.186A>G	ENSP00000502684.1:p.Pro62=
ENST00000675655.1:n.207A>G
ENST00000675694.1:c.1A>G	ENSP00000501925.1:p.Met1Val
ENST00000676287.1:c.1A>G	ENSP00000502810.1:p.Met1Val
ENST00000676362.1:n.224A>G
ENST00000340850.9:c.1A>G	ENSP00000344570.5:p.Met1Val
ENST00000377725.5:c.1A>G	ENSP00000366954.1:p.Met1Val
ENST00000377728.7:c.1A>G	ENSP00000366957.3:p.Met1Val
ENST00000377732.5:c.112A>G	ENSP00000366961.1:p.Met38Val
ENST00000377740.4:c.232A>G	ENSP00000366969.3:p.Met78Val
ENST00000377748.5:c.232A>G	ENSP00000366977.1:p.Met78Val
ENST00000400913.5:c.1A>G	ENSP00000383704.1:p.Met1Val
ENST00000400915.7:c.169A>G	ENSP00000383706.3:p.Met57Val
ENST00000489097.5:n.18A>G
ENST00000535355.5:c.208A>G	ENSP00000441445.1:p.Met70Val
ENST00000537245.5:c.238A>G	ENSP00000439625.1:p.Met80Val
NM_001042663.1:c.169A>G	NP_001036128.1:p.Met57Val
NM_001042664.1:c.1A>G	NP_001036129.1:p.Met1Val
NM_001042665.1:c.1A>G	NP_001036130.1:p.Met1Val
NM_001265592.1:c.238A>G	NP_001252521.1:p.Met80Val
NM_001265593.1:c.208A>G	NP_001252522.1:p.Met70Val
NM_001265594.1:c.1A>G	NP_001252523.1:p.Met1Val
NM_020631.4:c.1A>G	NP_065682.2:p.Met1Val
NM_198681.3:c.232A>G	NP_941374.2:p.Met78Val
NM_001042663.2:c.169A>G	NP_001036128.1:p.Met57Val
NM_001265594.2:c.1A>G	NP_001252523.1:p.Met1Val
NM_020631.5:c.1A>G	NP_065682.2:p.Met1Val
NM_001042663.3:c.112A>G	NP_001036128.2:p.Met38Val
NM_001265592.2:c.112A>G	NP_001252521.2:p.Met38Val
NM_020631.6:c.1A>G MANE Select	NP_065682.2:p.Met1Val
NM_198681.4:c.1A>G	NP_941374.3:p.Met1Val