Canonical Allele Identifier: CA17241775

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1033703090
• gnomAD v4: 1-6473040-G-T
• MyVariant Identifiers: chr1:g.6533100G>T (hg19) ; chr1:g.6473040G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6473040G>T , CM000663.2:g.6473040G>T	GRCh38
NC_000001.10:g.6533100G>T , CM000663.1:g.6533100G>T	GRCh37
NC_000001.9:g.6455687G>T	NCBI36
NG_007978.1:g.51970C>A , LRG_262:g.51970C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.930C>A	ENSP00000344570.5:p.Asp310Glu
ENST00000377728.8:c.930C>A MANE Select	ENSP00000366957.3:p.Asp310Glu
ENST00000377740.5:c.930C>A	ENSP00000366969.4:p.Asp310Glu
ENST00000377748.6:c.1104C>A	ENSP00000366977.2:p.Asp368Glu
ENST00000400913.6:c.930C>A	ENSP00000383704.1:p.Asp310Glu
ENST00000400915.8:c.1041C>A	ENSP00000383706.4:p.Asp347Glu
ENST00000489097.6:n.1406C>A
ENST00000535355.6:c.1137C>A	ENSP00000441445.1:p.Asp379Glu
ENST00000537245.6:c.1041C>A	ENSP00000439625.2:p.Asp347Glu
ENST00000673471.2:c.1227C>A	ENSP00000500749.1:p.Asp409Glu
ENST00000674790.1:c.*1142C>A	ENSP00000502815.1:n.*1142C>A
ENST00000675123.1:c.930C>A	ENSP00000502132.1:p.Asp310Glu
ENST00000675548.1:c.*758C>A	ENSP00000502684.1:n.*758C>A
ENST00000675694.1:c.930C>A	ENSP00000501925.1:p.Asp310Glu
ENST00000340850.9:c.930C>A	ENSP00000344570.5:p.Asp310Glu
ENST00000377725.5:c.930C>A	ENSP00000366954.1:p.Asp310Glu
ENST00000377728.7:c.930C>A	ENSP00000366957.3:p.Asp310Glu
ENST00000377732.5:c.1041C>A	ENSP00000366961.1:p.Asp347Glu
ENST00000377740.4:c.1161C>A	ENSP00000366969.3:p.Asp387Glu
ENST00000377748.5:c.1161C>A	ENSP00000366977.1:p.Asp387Glu
ENST00000400913.5:c.930C>A	ENSP00000383704.1:p.Asp310Glu
ENST00000400915.7:c.1098C>A	ENSP00000383706.3:p.Asp366Glu
ENST00000489097.5:n.1406C>A
ENST00000535355.5:c.1137C>A	ENSP00000441445.1:p.Asp379Glu
ENST00000537245.5:c.1167C>A	ENSP00000439625.1:p.Asp389Glu
NM_001042663.1:c.1098C>A	NP_001036128.1:p.Asp366Glu
NM_001042664.1:c.930C>A	NP_001036129.1:p.Asp310Glu
NM_001042665.1:c.930C>A	NP_001036130.1:p.Asp310Glu
NM_001265592.1:c.1167C>A	NP_001252521.1:p.Asp389Glu
NM_001265593.1:c.1137C>A	NP_001252522.1:p.Asp379Glu
NM_001265594.1:c.930C>A	NP_001252523.1:p.Asp310Glu
NM_020631.4:c.930C>A	NP_065682.2:p.Asp310Glu
NM_198681.3:c.1161C>A	NP_941374.2:p.Asp387Glu
NM_001042663.2:c.1098C>A	NP_001036128.1:p.Asp366Glu
NM_001265594.2:c.930C>A	NP_001252523.1:p.Asp310Glu
NM_020631.5:c.930C>A	NP_065682.2:p.Asp310Glu
NM_001042663.3:c.1041C>A	NP_001036128.2:p.Asp347Glu
NM_001265592.2:c.1041C>A	NP_001252521.2:p.Asp347Glu
NM_020631.6:c.930C>A MANE Select	NP_065682.2:p.Asp310Glu
NM_198681.4:c.930C>A	NP_941374.3:p.Asp310Glu