Canonical Allele Identifier: CA338131938

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6471761A>T , CM000663.2:g.6471761A>T	GRCh38
NC_000001.10:g.6531821A>T , CM000663.1:g.6531821A>T	GRCh37
NC_000001.9:g.6454408A>T	NCBI36
NG_007978.1:g.53249T>A , LRG_262:g.53249T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020631.6:c.1128T>A MANE Select	NP_065682.2:p.Cys376Ter
ENST00000377728.8:c.1128T>A MANE Select	ENSP00000366957.3:p.Cys376Ter
NM_001042663.1:c.1296T>A	NP_001036128.1:p.Cys432Ter
NM_001042663.2:c.1296T>A	NP_001036128.1:p.Cys432Ter
NM_001042663.3:c.1239T>A	NP_001036128.2:p.Cys413Ter
NM_001042664.1:c.1128T>A	NP_001036129.1:p.Cys376Ter
NM_001042665.1:c.1128T>A	NP_001036130.1:p.Cys376Ter
NM_001265592.1:c.1365T>A	NP_001252521.1:p.Cys455Ter
NM_001265592.2:c.1239T>A	NP_001252521.2:p.Cys413Ter
NM_001265593.1:c.1335T>A	NP_001252522.1:p.Cys445Ter
NM_001265594.1:c.1128T>A	NP_001252523.1:p.Cys376Ter
NM_001265594.2:c.1128T>A	NP_001252523.1:p.Cys376Ter
NM_020631.4:c.1128T>A	NP_065682.2:p.Cys376Ter
NM_020631.5:c.1128T>A	NP_065682.2:p.Cys376Ter
NM_198681.3:c.1359T>A	NP_941374.2:p.Cys453Ter
NM_198681.4:c.1128T>A	NP_941374.3:p.Cys376Ter
ENST00000340850.10:c.1128T>A	ENSP00000344570.5:p.Cys376Ter
ENST00000340850.9:c.1128T>A	ENSP00000344570.5:p.Cys376Ter
ENST00000377725.5:c.1128T>A	ENSP00000366954.1:p.Cys376Ter
ENST00000377728.7:c.1128T>A	ENSP00000366957.3:p.Cys376Ter
ENST00000377732.5:c.1239T>A	ENSP00000366961.1:p.Cys413Ter
ENST00000377740.4:c.1359T>A	ENSP00000366969.3:p.Cys453Ter
ENST00000377740.5:c.1128T>A	ENSP00000366969.4:p.Cys376Ter
ENST00000377748.5:c.1359T>A	ENSP00000366977.1:p.Cys453Ter
ENST00000377748.6:c.1302T>A	ENSP00000366977.2:p.Cys434Ter
ENST00000400913.5:c.1128T>A	ENSP00000383704.1:p.Cys376Ter
ENST00000400913.6:c.1128T>A	ENSP00000383704.1:p.Cys376Ter
ENST00000400915.7:c.1296T>A	ENSP00000383706.3:p.Cys432Ter
ENST00000400915.8:c.1239T>A	ENSP00000383706.4:p.Cys413Ter
ENST00000489097.5:n.1604T>A
ENST00000489097.6:n.1604T>A
ENST00000535355.5:c.1335T>A	ENSP00000441445.1:p.Cys445Ter
ENST00000535355.6:c.1335T>A	ENSP00000441445.1:p.Cys445Ter
ENST00000537245.5:c.1365T>A	ENSP00000439625.1:p.Cys455Ter
ENST00000537245.6:c.1239T>A	ENSP00000439625.2:p.Cys413Ter
ENST00000673471.2:c.1425T>A	ENSP00000500749.1:p.Cys475Ter
ENST00000674685.1:n.161T>A
ENST00000674790.1:c.*1340T>A	ENSP00000502815.1:n.*1340T>A
ENST00000675123.1:c.1128T>A	ENSP00000502132.1:p.Cys376Ter
ENST00000675548.1:c.*956T>A	ENSP00000502684.1:n.*956T>A
ENST00000675694.1:c.1128T>A	ENSP00000501925.1:p.Cys376Ter