Canonical Allele Identifier: CA416022934

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 1558226
• ClinVar RCV Id: RCV002197643
• dbSNP Id: rs1346162495
• gnomAD v2: 1-6531068-G-A
• gnomAD v4: 1-6471008-G-A
• MyVariant Identifiers: chr1:g.6531068G>A (hg19) ; chr1:g.6471008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6471008G>A , CM000663.2:g.6471008G>A	GRCh38
NC_000001.10:g.6531068G>A , CM000663.1:g.6531068G>A	GRCh37
NC_000001.9:g.6453655G>A	NCBI36
NG_007978.1:g.54002C>T , LRG_262:g.54002C>T
NG_029910.1:g.188C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.1374C>T	ENSP00000344570.5:p.Leu458=
ENST00000377728.8:c.1374C>T MANE Select	ENSP00000366957.3:p.Leu458=
ENST00000377740.5:c.1374C>T	ENSP00000366969.4:p.Leu458=
ENST00000377748.6:c.1548C>T	ENSP00000366977.2:p.Leu516=
ENST00000400913.6:c.1374C>T	ENSP00000383704.1:p.Leu458=
ENST00000400915.8:c.1485C>T	ENSP00000383706.4:p.Leu495=
ENST00000489097.6:n.1850C>T
ENST00000535355.6:c.1581C>T	ENSP00000441445.1:p.Leu527=
ENST00000537245.6:c.1485C>T	ENSP00000439625.2:p.Leu495=
ENST00000673471.2:c.1671C>T	ENSP00000500749.1:p.Leu557=
ENST00000674685.1:n.407C>T
ENST00000674790.1:c.*1586C>T	ENSP00000502815.1:n.*1586C>T
ENST00000675123.1:c.1374C>T	ENSP00000502132.1:p.Leu458=
ENST00000675548.1:c.*1202C>T	ENSP00000502684.1:n.*1202C>T
ENST00000675694.1:c.1374C>T	ENSP00000501925.1:p.Leu458=
ENST00000340850.9:c.1374C>T	ENSP00000344570.5:p.Leu458=
ENST00000377725.5:c.1374C>T	ENSP00000366954.1:p.Leu458=
ENST00000377728.7:c.1374C>T	ENSP00000366957.3:p.Leu458=
ENST00000377732.5:c.1485C>T	ENSP00000366961.1:p.Leu495=
ENST00000377740.4:c.1605C>T	ENSP00000366969.3:p.Leu535=
ENST00000377748.5:c.1605C>T	ENSP00000366977.1:p.Leu535=
ENST00000400913.5:c.1374C>T	ENSP00000383704.1:p.Leu458=
ENST00000400915.7:c.1542C>T	ENSP00000383706.3:p.Leu514=
ENST00000487949.4:n.576C>T
ENST00000489097.5:n.1850C>T
ENST00000535355.5:c.1581C>T	ENSP00000441445.1:p.Leu527=
ENST00000537245.5:c.1611C>T	ENSP00000439625.1:p.Leu537=
NM_001042663.1:c.1542C>T	NP_001036128.1:p.Leu514=
NM_001042664.1:c.1374C>T	NP_001036129.1:p.Leu458=
NM_001042665.1:c.1374C>T	NP_001036130.1:p.Leu458=
NM_001265592.1:c.1611C>T	NP_001252521.1:p.Leu537=
NM_001265593.1:c.1581C>T	NP_001252522.1:p.Leu527=
NM_001265594.1:c.1374C>T	NP_001252523.1:p.Leu458=
NM_020631.4:c.1374C>T	NP_065682.2:p.Leu458=
NM_198681.3:c.1605C>T	NP_941374.2:p.Leu535=
NM_001042663.2:c.1542C>T	NP_001036128.1:p.Leu514=
NM_001265594.2:c.1374C>T	NP_001252523.1:p.Leu458=
NM_020631.5:c.1374C>T	NP_065682.2:p.Leu458=
NM_001042663.3:c.1485C>T	NP_001036128.2:p.Leu495=
NM_001265592.2:c.1485C>T	NP_001252521.2:p.Leu495=
NM_020631.6:c.1374C>T MANE Select	NP_065682.2:p.Leu458=
NM_198681.4:c.1374C>T	NP_941374.3:p.Leu458=