Canonical Allele Identifier: CA562000

Gene: PLEKHG5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6475997G>A , CM000663.2:g.6475997G>A	GRCh38
NC_000001.10:g.6536057G>A , CM000663.1:g.6536057G>A	GRCh37
NC_000001.9:g.6458644G>A	NCBI36
NG_007978.1:g.49013C>T , LRG_262:g.49013C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020631.6:c.83C>T MANE Select	NP_065682.2:p.Pro28Leu
ENST00000377728.8:c.83C>T MANE Select	ENSP00000366957.3:p.Pro28Leu
NM_001042663.1:c.251C>T	NP_001036128.1:p.Pro84Leu
NM_001042663.2:c.251C>T	NP_001036128.1:p.Pro84Leu
NM_001042663.3:c.194C>T	NP_001036128.2:p.Pro65Leu
NM_001042664.1:c.83C>T	NP_001036129.1:p.Pro28Leu
NM_001042665.1:c.83C>T	NP_001036130.1:p.Pro28Leu
NM_001265592.1:c.320C>T	NP_001252521.1:p.Pro107Leu
NM_001265592.2:c.194C>T	NP_001252521.2:p.Pro65Leu
NM_001265593.1:c.290C>T	NP_001252522.1:p.Pro97Leu
NM_001265594.1:c.83C>T	NP_001252523.1:p.Pro28Leu
NM_001265594.2:c.83C>T	NP_001252523.1:p.Pro28Leu
NM_020631.4:c.83C>T	NP_065682.2:p.Pro28Leu
NM_020631.5:c.83C>T	NP_065682.2:p.Pro28Leu
NM_198681.3:c.314C>T	NP_941374.2:p.Pro105Leu
NM_198681.4:c.83C>T	NP_941374.3:p.Pro28Leu
ENST00000340850.10:c.83C>T	ENSP00000344570.5:p.Pro28Leu
ENST00000340850.9:c.83C>T	ENSP00000344570.5:p.Pro28Leu
ENST00000377725.5:c.83C>T	ENSP00000366954.1:p.Pro28Leu
ENST00000377728.7:c.83C>T	ENSP00000366957.3:p.Pro28Leu
ENST00000377732.5:c.194C>T	ENSP00000366961.1:p.Pro65Leu
ENST00000377740.4:c.314C>T	ENSP00000366969.3:p.Pro105Leu
ENST00000377740.5:c.83C>T	ENSP00000366969.4:p.Pro28Leu
ENST00000377748.5:c.314C>T	ENSP00000366977.1:p.Pro105Leu
ENST00000377748.6:c.257C>T	ENSP00000366977.2:p.Pro86Leu
ENST00000400913.5:c.83C>T	ENSP00000383704.1:p.Pro28Leu
ENST00000400913.6:c.83C>T	ENSP00000383704.1:p.Pro28Leu
ENST00000400915.7:c.251C>T	ENSP00000383706.3:p.Pro84Leu
ENST00000400915.8:c.194C>T	ENSP00000383706.4:p.Pro65Leu
ENST00000489097.5:n.100C>T
ENST00000489097.6:n.100C>T
ENST00000535355.5:c.290C>T	ENSP00000441445.1:p.Pro97Leu
ENST00000535355.6:c.290C>T	ENSP00000441445.1:p.Pro97Leu
ENST00000537245.5:c.320C>T	ENSP00000439625.1:p.Pro107Leu
ENST00000537245.6:c.194C>T	ENSP00000439625.2:p.Pro65Leu
ENST00000673471.2:c.380C>T	ENSP00000500749.1:p.Pro127Leu
ENST00000674790.1:c.*295C>T	ENSP00000502815.1:n.*295C>T
ENST00000674803.1:n.313C>T
ENST00000675093.1:c.83C>T	ENSP00000502687.1:p.Pro28Leu
ENST00000675123.1:c.83C>T	ENSP00000502132.1:p.Pro28Leu
ENST00000675548.1:c.268C>T	ENSP00000502684.1:p.Arg90Cys
ENST00000675655.1:n.289C>T
ENST00000675694.1:c.83C>T	ENSP00000501925.1:p.Pro28Leu
ENST00000676287.1:c.83C>T	ENSP00000502810.1:p.Pro28Leu
ENST00000676362.1:n.306C>T