Canonical Allele Identifier: CA415833995

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1454080327
• gnomAD v4: 1-6474133-C-T
• MyVariant Identifiers: chr1:g.6534193C>T (hg19) ; chr1:g.6474133C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6474133C>T , CM000663.2:g.6474133C>T	GRCh38
NC_000001.10:g.6534193C>T , CM000663.1:g.6534193C>T	GRCh37
NC_000001.9:g.6456780C>T	NCBI36
NG_007978.1:g.50877G>A , LRG_262:g.50877G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340850.10:c.471G>A	ENSP00000344570.5:p.Val157=
ENST00000377728.8:c.471G>A MANE Select	ENSP00000366957.3:p.Val157=
ENST00000377740.5:c.471G>A	ENSP00000366969.4:p.Val157=
ENST00000377748.6:c.645G>A	ENSP00000366977.2:p.Val215=
ENST00000400913.6:c.471G>A	ENSP00000383704.1:p.Val157=
ENST00000400915.8:c.582G>A	ENSP00000383706.4:p.Val194=
ENST00000489097.6:n.947G>A
ENST00000535355.6:c.678G>A	ENSP00000441445.1:p.Val226=
ENST00000537245.6:c.582G>A	ENSP00000439625.2:p.Val194=
ENST00000673471.2:c.768G>A	ENSP00000500749.1:p.Val256=
ENST00000674790.1:c.*683G>A	ENSP00000502815.1:n.*683G>A
ENST00000675123.1:c.471G>A	ENSP00000502132.1:p.Val157=
ENST00000675548.1:c.*299G>A	ENSP00000502684.1:n.*299G>A
ENST00000675694.1:c.471G>A	ENSP00000501925.1:p.Val157=
ENST00000340850.9:c.471G>A	ENSP00000344570.5:p.Val157=
ENST00000377725.5:c.471G>A	ENSP00000366954.1:p.Val157=
ENST00000377728.7:c.471G>A	ENSP00000366957.3:p.Val157=
ENST00000377732.5:c.582G>A	ENSP00000366961.1:p.Val194=
ENST00000377740.4:c.702G>A	ENSP00000366969.3:p.Val234=
ENST00000377748.5:c.702G>A	ENSP00000366977.1:p.Val234=
ENST00000400913.5:c.471G>A	ENSP00000383704.1:p.Val157=
ENST00000400915.7:c.639G>A	ENSP00000383706.3:p.Val213=
ENST00000489097.5:n.947G>A
ENST00000535355.5:c.678G>A	ENSP00000441445.1:p.Val226=
ENST00000537245.5:c.708G>A	ENSP00000439625.1:p.Val236=
NM_001042663.1:c.639G>A	NP_001036128.1:p.Val213=
NM_001042664.1:c.471G>A	NP_001036129.1:p.Val157=
NM_001042665.1:c.471G>A	NP_001036130.1:p.Val157=
NM_001265592.1:c.708G>A	NP_001252521.1:p.Val236=
NM_001265593.1:c.678G>A	NP_001252522.1:p.Val226=
NM_001265594.1:c.471G>A	NP_001252523.1:p.Val157=
NM_020631.4:c.471G>A	NP_065682.2:p.Val157=
NM_198681.3:c.702G>A	NP_941374.2:p.Val234=
NM_001042663.2:c.639G>A	NP_001036128.1:p.Val213=
NM_001265594.2:c.471G>A	NP_001252523.1:p.Val157=
NM_020631.5:c.471G>A	NP_065682.2:p.Val157=
NM_001042663.3:c.582G>A	NP_001036128.2:p.Val194=
NM_001265592.2:c.582G>A	NP_001252521.2:p.Val194=
NM_020631.6:c.471G>A MANE Select	NP_065682.2:p.Val157=
NM_198681.4:c.471G>A	NP_941374.3:p.Val157=