Canonical Allele Identifier: CA415833304
Gene: PLEKHG5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6533061G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6473001G>T , CM000663.2:g.6473001G>T GRCh38
NC_000001.10:g.6533061G>T , CM000663.1:g.6533061G>T GRCh37
NC_000001.9:g.6455648G>T NCBI36
NG_007978.1:g.52009C>A , LRG_262:g.52009C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340850.10:c.969C>A ENSP00000344570.5:p.Leu323=
ENST00000377728.8:c.969C>A MANE Select ENSP00000366957.3:p.Leu323=
ENST00000377740.5:c.969C>A ENSP00000366969.4:p.Leu323=
ENST00000377748.6:c.1143C>A ENSP00000366977.2:p.Leu381=
ENST00000400913.6:c.969C>A ENSP00000383704.1:p.Leu323=
ENST00000400915.8:c.1080C>A ENSP00000383706.4:p.Leu360=
ENST00000489097.6:n.1445C>A
ENST00000535355.6:c.1176C>A ENSP00000441445.1:p.Leu392=
ENST00000537245.6:c.1080C>A ENSP00000439625.2:p.Leu360=
ENST00000673471.2:c.1266C>A ENSP00000500749.1:p.Leu422=
ENST00000674790.1:c.*1181C>A ENSP00000502815.1:n.*1181C>A
ENST00000675123.1:c.969C>A ENSP00000502132.1:p.Leu323=
ENST00000675548.1:c.*797C>A ENSP00000502684.1:n.*797C>A
ENST00000675694.1:c.969C>A ENSP00000501925.1:p.Leu323=
ENST00000340850.9:c.969C>A ENSP00000344570.5:p.Leu323=
ENST00000377725.5:c.969C>A ENSP00000366954.1:p.Leu323=
ENST00000377728.7:c.969C>A ENSP00000366957.3:p.Leu323=
ENST00000377732.5:c.1080C>A ENSP00000366961.1:p.Leu360=
ENST00000377740.4:c.1200C>A ENSP00000366969.3:p.Leu400=
ENST00000377748.5:c.1200C>A ENSP00000366977.1:p.Leu400=
ENST00000400913.5:c.969C>A ENSP00000383704.1:p.Leu323=
ENST00000400915.7:c.1137C>A ENSP00000383706.3:p.Leu379=
ENST00000489097.5:n.1445C>A
ENST00000535355.5:c.1176C>A ENSP00000441445.1:p.Leu392=
ENST00000537245.5:c.1206C>A ENSP00000439625.1:p.Leu402=
NM_001042663.1:c.1137C>A NP_001036128.1:p.Leu379=
NM_001042664.1:c.969C>A NP_001036129.1:p.Leu323=
NM_001042665.1:c.969C>A NP_001036130.1:p.Leu323=
NM_001265592.1:c.1206C>A NP_001252521.1:p.Leu402=
NM_001265593.1:c.1176C>A NP_001252522.1:p.Leu392=
NM_001265594.1:c.969C>A NP_001252523.1:p.Leu323=
NM_020631.4:c.969C>A NP_065682.2:p.Leu323=
NM_198681.3:c.1200C>A NP_941374.2:p.Leu400=
NM_001042663.2:c.1137C>A NP_001036128.1:p.Leu379=
NM_001265594.2:c.969C>A NP_001252523.1:p.Leu323=
NM_020631.5:c.969C>A NP_065682.2:p.Leu323=
NM_001042663.3:c.1080C>A NP_001036128.2:p.Leu360=
NM_001265592.2:c.1080C>A NP_001252521.2:p.Leu360=
NM_020631.6:c.969C>A MANE Select NP_065682.2:p.Leu323=
NM_198681.4:c.969C>A NP_941374.3:p.Leu323=