Canonical Allele Identifier: CA16603736

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 387281
• ClinVar RCV Id: RCV000440457
• dbSNP Id: rs201647966
• gnomAD v2: 1-6528615-T-C
• gnomAD v3: 1-6468555-T-C
• gnomAD v4: 1-6468555-T-C
• MyVariant Identifiers: chr1:g.6528615T>C (hg19) ; chr1:g.6468555T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6468555T>C , CM000663.2:g.6468555T>C	GRCh38
NC_000001.10:g.6528615T>C , CM000663.1:g.6528615T>C	GRCh37
NC_000001.9:g.6451202T>C	NCBI36
NG_007978.1:g.56455A>G , LRG_262:g.56455A>G
NG_029910.1:g.2641A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2281A>G	ENSP00000344570.5:p.Met761Val
ENST00000377728.8:c.2281A>G MANE Select	ENSP00000366957.3:p.Met761Val
ENST00000377740.5:c.2281A>G	ENSP00000366969.4:p.Met761Val
ENST00000377748.6:c.2455A>G	ENSP00000366977.2:p.Met819Val
ENST00000400913.6:c.2281A>G	ENSP00000383704.1:p.Met761Val
ENST00000400915.8:c.2392A>G	ENSP00000383706.4:p.Met798Val
ENST00000489097.6:n.2757A>G
ENST00000535355.6:c.2488A>G	ENSP00000441445.1:p.Met830Val
ENST00000537245.6:c.2392A>G	ENSP00000439625.2:p.Met798Val
ENST00000673471.2:c.2578A>G	ENSP00000500749.1:p.Met860Val
ENST00000674790.1:c.*2493A>G	ENSP00000502815.1:n.*2493A>G
ENST00000675123.1:c.2249+487A>G	ENSP00000502132.1:n.2249+487A>G
ENST00000675548.1:c.*2109A>G	ENSP00000502684.1:n.*2109A>G
ENST00000675694.1:c.2281A>G	ENSP00000501925.1:p.Met761Val
ENST00000675976.1:c.154A>G	ENSP00000501611.1:p.Met52Val
ENST00000340850.9:c.2281A>G	ENSP00000344570.5:p.Met761Val
ENST00000377725.5:c.2281A>G	ENSP00000366954.1:p.Met761Val
ENST00000377728.7:c.2281A>G	ENSP00000366957.3:p.Met761Val
ENST00000377732.5:c.2392A>G	ENSP00000366961.1:p.Met798Val
ENST00000377740.4:c.2480+487A>G	ENSP00000366969.3:n.2480+487A>G
ENST00000377748.5:c.2512A>G	ENSP00000366977.1:p.Met838Val
ENST00000400913.5:c.2281A>G	ENSP00000383704.1:p.Met761Val
ENST00000400915.7:c.2449A>G	ENSP00000383706.3:p.Met817Val
ENST00000487949.4:n.1483A>G
ENST00000489097.5:n.2757A>G
ENST00000535355.5:c.2488A>G	ENSP00000441445.1:p.Met830Val
ENST00000537245.5:c.2518A>G	ENSP00000439625.1:p.Met840Val
NM_001042663.1:c.2449A>G	NP_001036128.1:p.Met817Val
NM_001042664.1:c.2281A>G	NP_001036129.1:p.Met761Val
NM_001042665.1:c.2281A>G	NP_001036130.1:p.Met761Val
NM_001265592.1:c.2518A>G	NP_001252521.1:p.Met840Val
NM_001265593.1:c.2488A>G	NP_001252522.1:p.Met830Val
NM_001265594.1:c.2281A>G	NP_001252523.1:p.Met761Val
NM_020631.4:c.2281A>G	NP_065682.2:p.Met761Val
NM_198681.3:c.2512A>G	NP_941374.2:p.Met838Val
NM_001042663.2:c.2449A>G	NP_001036128.1:p.Met817Val
NM_001265594.2:c.2281A>G	NP_001252523.1:p.Met761Val
NM_020631.5:c.2281A>G	NP_065682.2:p.Met761Val
NM_001042663.3:c.2392A>G	NP_001036128.2:p.Met798Val
NM_001265592.2:c.2392A>G	NP_001252521.2:p.Met798Val
NM_020631.6:c.2281A>G MANE Select	NP_065682.2:p.Met761Val
NM_198681.4:c.2281A>G	NP_941374.3:p.Met761Val