Canonical Allele Identifier: CA561817

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 511105
• ClinVar RCV Id: RCV000604487
• dbSNP Id: rs372624847
• ExAC: 1:6534124 G / C
• gnomAD v2: 1-6534124-G-C
• gnomAD v3: 1-6474064-G-C
• gnomAD v4: 1-6474064-G-C
• MyVariant Identifiers: chr1:g.6534124G>C (hg19) ; chr1:g.6474064G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474064G>C , CM000663.2:g.6474064G>C	GRCh38
NC_000001.10:g.6534124G>C , CM000663.1:g.6534124G>C	GRCh37
NC_000001.9:g.6456711G>C	NCBI36
NG_007978.1:g.50946C>G , LRG_262:g.50946C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.540C>G	ENSP00000344570.5:p.Pro180=
ENST00000377728.8:c.540C>G MANE Select	ENSP00000366957.3:p.Pro180=
ENST00000377740.5:c.540C>G	ENSP00000366969.4:p.Pro180=
ENST00000377748.6:c.714C>G	ENSP00000366977.2:p.Pro238=
ENST00000400913.6:c.540C>G	ENSP00000383704.1:p.Pro180=
ENST00000400915.8:c.651C>G	ENSP00000383706.4:p.Pro217=
ENST00000489097.6:n.1016C>G
ENST00000535355.6:c.747C>G	ENSP00000441445.1:p.Pro249=
ENST00000537245.6:c.651C>G	ENSP00000439625.2:p.Pro217=
ENST00000673471.2:c.837C>G	ENSP00000500749.1:p.Pro279=
ENST00000674790.1:c.*752C>G	ENSP00000502815.1:n.*752C>G
ENST00000675123.1:c.540C>G	ENSP00000502132.1:p.Pro180=
ENST00000675548.1:c.*368C>G	ENSP00000502684.1:n.*368C>G
ENST00000675694.1:c.540C>G	ENSP00000501925.1:p.Pro180=
ENST00000340850.9:c.540C>G	ENSP00000344570.5:p.Pro180=
ENST00000377725.5:c.540C>G	ENSP00000366954.1:p.Pro180=
ENST00000377728.7:c.540C>G	ENSP00000366957.3:p.Pro180=
ENST00000377732.5:c.651C>G	ENSP00000366961.1:p.Pro217=
ENST00000377740.4:c.771C>G	ENSP00000366969.3:p.Pro257=
ENST00000377748.5:c.771C>G	ENSP00000366977.1:p.Pro257=
ENST00000400913.5:c.540C>G	ENSP00000383704.1:p.Pro180=
ENST00000400915.7:c.708C>G	ENSP00000383706.3:p.Pro236=
ENST00000489097.5:n.1016C>G
ENST00000535355.5:c.747C>G	ENSP00000441445.1:p.Pro249=
ENST00000537245.5:c.777C>G	ENSP00000439625.1:p.Pro259=
NM_001042663.1:c.708C>G	NP_001036128.1:p.Pro236=
NM_001042664.1:c.540C>G	NP_001036129.1:p.Pro180=
NM_001042665.1:c.540C>G	NP_001036130.1:p.Pro180=
NM_001265592.1:c.777C>G	NP_001252521.1:p.Pro259=
NM_001265593.1:c.747C>G	NP_001252522.1:p.Pro249=
NM_001265594.1:c.540C>G	NP_001252523.1:p.Pro180=
NM_020631.4:c.540C>G	NP_065682.2:p.Pro180=
NM_198681.3:c.771C>G	NP_941374.2:p.Pro257=
NM_001042663.2:c.708C>G	NP_001036128.1:p.Pro236=
NM_001265594.2:c.540C>G	NP_001252523.1:p.Pro180=
NM_020631.5:c.540C>G	NP_065682.2:p.Pro180=
NM_001042663.3:c.651C>G	NP_001036128.2:p.Pro217=
NM_001265592.2:c.651C>G	NP_001252521.2:p.Pro217=
NM_020631.6:c.540C>G MANE Select	NP_065682.2:p.Pro180=
NM_198681.4:c.540C>G	NP_941374.3:p.Pro180=