Canonical Allele Identifier: CA561516

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 536779
• ClinVar RCV Id: RCV000645428 ; RCV002528915
• dbSNP Id: rs757292650
• ExAC: 1:6530941 C / G
• gnomAD v2: 1-6530941-C-G
• gnomAD v4: 1-6470881-C-G
• MyVariant Identifiers: chr1:g.6530941C>G (hg19) ; chr1:g.6470881C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470881C>G , CM000663.2:g.6470881C>G	GRCh38
NC_000001.10:g.6530941C>G , CM000663.1:g.6530941C>G	GRCh37
NC_000001.9:g.6453528C>G	NCBI36
NG_007978.1:g.54129G>C , LRG_262:g.54129G>C
NG_029910.1:g.315G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1396G>C	ENSP00000344570.5:p.Ala466Pro
ENST00000377728.8:c.1396G>C MANE Select	ENSP00000366957.3:p.Ala466Pro
ENST00000377740.5:c.1396G>C	ENSP00000366969.4:p.Ala466Pro
ENST00000377748.6:c.1570G>C	ENSP00000366977.2:p.Ala524Pro
ENST00000400913.6:c.1396G>C	ENSP00000383704.1:p.Ala466Pro
ENST00000400915.8:c.1507G>C	ENSP00000383706.4:p.Ala503Pro
ENST00000489097.6:n.1872G>C
ENST00000535355.6:c.1603G>C	ENSP00000441445.1:p.Ala535Pro
ENST00000537245.6:c.1507G>C	ENSP00000439625.2:p.Ala503Pro
ENST00000673471.2:c.1693G>C	ENSP00000500749.1:p.Ala565Pro
ENST00000674685.1:n.429G>C
ENST00000674790.1:c.*1608G>C	ENSP00000502815.1:n.*1608G>C
ENST00000674943.1:n.58G>C
ENST00000675123.1:c.1396G>C	ENSP00000502132.1:p.Ala466Pro
ENST00000675548.1:c.*1224G>C	ENSP00000502684.1:n.*1224G>C
ENST00000675694.1:c.1396G>C	ENSP00000501925.1:p.Ala466Pro
ENST00000340850.9:c.1396G>C	ENSP00000344570.5:p.Ala466Pro
ENST00000377725.5:c.1396G>C	ENSP00000366954.1:p.Ala466Pro
ENST00000377728.7:c.1396G>C	ENSP00000366957.3:p.Ala466Pro
ENST00000377732.5:c.1507G>C	ENSP00000366961.1:p.Ala503Pro
ENST00000377740.4:c.1627G>C	ENSP00000366969.3:p.Ala543Pro
ENST00000377748.5:c.1627G>C	ENSP00000366977.1:p.Ala543Pro
ENST00000400913.5:c.1396G>C	ENSP00000383704.1:p.Ala466Pro
ENST00000400915.7:c.1564G>C	ENSP00000383706.3:p.Ala522Pro
ENST00000487949.4:n.598G>C
ENST00000489097.5:n.1872G>C
ENST00000535355.5:c.1603G>C	ENSP00000441445.1:p.Ala535Pro
ENST00000537245.5:c.1633G>C	ENSP00000439625.1:p.Ala545Pro
NM_001042663.1:c.1564G>C	NP_001036128.1:p.Ala522Pro
NM_001042664.1:c.1396G>C	NP_001036129.1:p.Ala466Pro
NM_001042665.1:c.1396G>C	NP_001036130.1:p.Ala466Pro
NM_001265592.1:c.1633G>C	NP_001252521.1:p.Ala545Pro
NM_001265593.1:c.1603G>C	NP_001252522.1:p.Ala535Pro
NM_001265594.1:c.1396G>C	NP_001252523.1:p.Ala466Pro
NM_020631.4:c.1396G>C	NP_065682.2:p.Ala466Pro
NM_198681.3:c.1627G>C	NP_941374.2:p.Ala543Pro
NM_001042663.2:c.1564G>C	NP_001036128.1:p.Ala522Pro
NM_001265594.2:c.1396G>C	NP_001252523.1:p.Ala466Pro
NM_020631.5:c.1396G>C	NP_065682.2:p.Ala466Pro
NM_001042663.3:c.1507G>C	NP_001036128.2:p.Ala503Pro
NM_001265592.2:c.1507G>C	NP_001252521.2:p.Ala503Pro
NM_020631.6:c.1396G>C MANE Select	NP_065682.2:p.Ala466Pro
NM_198681.4:c.1396G>C	NP_941374.3:p.Ala466Pro