Canonical Allele Identifier: CA561449

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 849452
• ClinVar RCV Id: RCV001053415 ; RCV002553319
• dbSNP Id: rs752167528
• ExAC: 1:6530642 C / T
• gnomAD v2: 1-6530642-C-T
• gnomAD v3: 1-6470582-C-T
• gnomAD v4: 1-6470582-C-T
• MyVariant Identifiers: chr1:g.6530642C>T (hg19) ; chr1:g.6470582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470582C>T , CM000663.2:g.6470582C>T	GRCh38
NC_000001.10:g.6530642C>T , CM000663.1:g.6530642C>T	GRCh37
NC_000001.9:g.6453229C>T	NCBI36
NG_007978.1:g.54428G>A , LRG_262:g.54428G>A
NG_029910.1:g.614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1604G>A	ENSP00000344570.5:p.Arg535Gln
ENST00000377728.8:c.1604G>A MANE Select	ENSP00000366957.3:p.Arg535Gln
ENST00000377740.5:c.1604G>A	ENSP00000366969.4:p.Arg535Gln
ENST00000377748.6:c.1778G>A	ENSP00000366977.2:p.Arg593Gln
ENST00000400913.6:c.1604G>A	ENSP00000383704.1:p.Arg535Gln
ENST00000400915.8:c.1715G>A	ENSP00000383706.4:p.Arg572Gln
ENST00000489097.6:n.2080G>A
ENST00000535355.6:c.1811G>A	ENSP00000441445.1:p.Arg604Gln
ENST00000537245.6:c.1715G>A	ENSP00000439625.2:p.Arg572Gln
ENST00000673471.2:c.1901G>A	ENSP00000500749.1:p.Arg634Gln
ENST00000674790.1:c.*1816G>A	ENSP00000502815.1:n.*1816G>A
ENST00000674943.1:n.266G>A
ENST00000675123.1:c.1604G>A	ENSP00000502132.1:p.Arg535Gln
ENST00000675548.1:c.*1432G>A	ENSP00000502684.1:n.*1432G>A
ENST00000675694.1:c.1604G>A	ENSP00000501925.1:p.Arg535Gln
ENST00000676401.1:n.151G>A
ENST00000340850.9:c.1604G>A	ENSP00000344570.5:p.Arg535Gln
ENST00000377725.5:c.1604G>A	ENSP00000366954.1:p.Arg535Gln
ENST00000377728.7:c.1604G>A	ENSP00000366957.3:p.Arg535Gln
ENST00000377732.5:c.1715G>A	ENSP00000366961.1:p.Arg572Gln
ENST00000377740.4:c.1835G>A	ENSP00000366969.3:p.Arg612Gln
ENST00000377748.5:c.1835G>A	ENSP00000366977.1:p.Arg612Gln
ENST00000400913.5:c.1604G>A	ENSP00000383704.1:p.Arg535Gln
ENST00000400915.7:c.1772G>A	ENSP00000383706.3:p.Arg591Gln
ENST00000487949.4:n.806G>A
ENST00000489097.5:n.2080G>A
ENST00000535355.5:c.1811G>A	ENSP00000441445.1:p.Arg604Gln
ENST00000537245.5:c.1841G>A	ENSP00000439625.1:p.Arg614Gln
NM_001042663.1:c.1772G>A	NP_001036128.1:p.Arg591Gln
NM_001042664.1:c.1604G>A	NP_001036129.1:p.Arg535Gln
NM_001042665.1:c.1604G>A	NP_001036130.1:p.Arg535Gln
NM_001265592.1:c.1841G>A	NP_001252521.1:p.Arg614Gln
NM_001265593.1:c.1811G>A	NP_001252522.1:p.Arg604Gln
NM_001265594.1:c.1604G>A	NP_001252523.1:p.Arg535Gln
NM_020631.4:c.1604G>A	NP_065682.2:p.Arg535Gln
NM_198681.3:c.1835G>A	NP_941374.2:p.Arg612Gln
NM_001042663.2:c.1772G>A	NP_001036128.1:p.Arg591Gln
NM_001265594.2:c.1604G>A	NP_001252523.1:p.Arg535Gln
NM_020631.5:c.1604G>A	NP_065682.2:p.Arg535Gln
NM_001042663.3:c.1715G>A	NP_001036128.2:p.Arg572Gln
NM_001265592.2:c.1715G>A	NP_001252521.2:p.Arg572Gln
NM_020631.6:c.1604G>A MANE Select	NP_065682.2:p.Arg535Gln
NM_198681.4:c.1604G>A	NP_941374.3:p.Arg535Gln