Canonical Allele Identifier: CA416022719

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 536786
• ClinVar RCV Id: RCV000645446 ; RCV002397248
• dbSNP Id: rs1488054852
• gnomAD v2: 1-6530671-C-G
• gnomAD v3: 1-6470611-C-G
• gnomAD v4: 1-6470611-C-G
• MyVariant Identifiers: chr1:g.6530671C>G (hg19) ; chr1:g.6470611C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470611C>G , CM000663.2:g.6470611C>G	GRCh38
NC_000001.10:g.6530671C>G , CM000663.1:g.6530671C>G	GRCh37
NC_000001.9:g.6453258C>G	NCBI36
NG_007978.1:g.54399G>C , LRG_262:g.54399G>C
NG_029910.1:g.585G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1575G>C	ENSP00000344570.5:p.Val525=
ENST00000377728.8:c.1575G>C MANE Select	ENSP00000366957.3:p.Val525=
ENST00000377740.5:c.1575G>C	ENSP00000366969.4:p.Val525=
ENST00000377748.6:c.1749G>C	ENSP00000366977.2:p.Val583=
ENST00000400913.6:c.1575G>C	ENSP00000383704.1:p.Val525=
ENST00000400915.8:c.1686G>C	ENSP00000383706.4:p.Val562=
ENST00000489097.6:n.2051G>C
ENST00000535355.6:c.1782G>C	ENSP00000441445.1:p.Val594=
ENST00000537245.6:c.1686G>C	ENSP00000439625.2:p.Val562=
ENST00000673471.2:c.1872G>C	ENSP00000500749.1:p.Val624=
ENST00000674790.1:c.*1787G>C	ENSP00000502815.1:n.*1787G>C
ENST00000674943.1:n.237G>C
ENST00000675123.1:c.1575G>C	ENSP00000502132.1:p.Val525=
ENST00000675548.1:c.*1403G>C	ENSP00000502684.1:n.*1403G>C
ENST00000675694.1:c.1575G>C	ENSP00000501925.1:p.Val525=
ENST00000676401.1:n.122G>C
ENST00000340850.9:c.1575G>C	ENSP00000344570.5:p.Val525=
ENST00000377725.5:c.1575G>C	ENSP00000366954.1:p.Val525=
ENST00000377728.7:c.1575G>C	ENSP00000366957.3:p.Val525=
ENST00000377732.5:c.1686G>C	ENSP00000366961.1:p.Val562=
ENST00000377740.4:c.1806G>C	ENSP00000366969.3:p.Val602=
ENST00000377748.5:c.1806G>C	ENSP00000366977.1:p.Val602=
ENST00000400913.5:c.1575G>C	ENSP00000383704.1:p.Val525=
ENST00000400915.7:c.1743G>C	ENSP00000383706.3:p.Val581=
ENST00000487949.4:n.777G>C
ENST00000489097.5:n.2051G>C
ENST00000535355.5:c.1782G>C	ENSP00000441445.1:p.Val594=
ENST00000537245.5:c.1812G>C	ENSP00000439625.1:p.Val604=
NM_001042663.1:c.1743G>C	NP_001036128.1:p.Val581=
NM_001042664.1:c.1575G>C	NP_001036129.1:p.Val525=
NM_001042665.1:c.1575G>C	NP_001036130.1:p.Val525=
NM_001265592.1:c.1812G>C	NP_001252521.1:p.Val604=
NM_001265593.1:c.1782G>C	NP_001252522.1:p.Val594=
NM_001265594.1:c.1575G>C	NP_001252523.1:p.Val525=
NM_020631.4:c.1575G>C	NP_065682.2:p.Val525=
NM_198681.3:c.1806G>C	NP_941374.2:p.Val602=
NM_001042663.2:c.1743G>C	NP_001036128.1:p.Val581=
NM_001265594.2:c.1575G>C	NP_001252523.1:p.Val525=
NM_020631.5:c.1575G>C	NP_065682.2:p.Val525=
NM_001042663.3:c.1686G>C	NP_001036128.2:p.Val562=
NM_001265592.2:c.1686G>C	NP_001252521.2:p.Val562=
NM_020631.6:c.1575G>C MANE Select	NP_065682.2:p.Val525=
NM_198681.4:c.1575G>C	NP_941374.3:p.Val525=