Canonical Allele Identifier: CA7229349

Gene: PLEKHG3 SPTB

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64749447G>A , CM000676.2:g.64749447G>A	GRCh38
NC_000014.8:g.65216165G>A , CM000676.1:g.65216165G>A	GRCh37
NC_000014.7:g.64285918G>A	NCBI36
NG_016202.1:g.78702C>T
NG_016202.2:g.135446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634379.2:c.*5744G>A (PLEKHG3)	ENSP00000489373.2:n.*5744G>A
ENST00000247226.13:c.*5744G>A (PLEKHG3) MANE Select	ENSP00000247226.8:n.*5744G>A
ENST00000342835.9:n.583C>T (SPTB)
ENST00000644917.1:c.6846C>T (SPTB) MANE Select	ENSP00000495909.1:p.Gly2282=
ENST00000247226.12:c.*5744G>A (PLEKHG3)	ENSP00000247226.8:n.*5744G>A
ENST00000342835.8:n.583C>T (SPTB)
ENST00000389722.7:c.6846C>T (SPTB)	ENSP00000374372.3:p.Gly2282=
ENST00000553938.5:c.2946C>T (SPTB)	ENSP00000451324.1:p.Gly982=
ENST00000556227.1:n.4249C>T (SPTB)
ENST00000556626.5:c.6846C>T (SPTB)	ENSP00000451752.1:p.Gly2282=
NM_001024858.2:c.6846C>T (SPTB)	NP_001020029.1:p.Gly2282=
XM_005268023.3:c.6846C>T (SPTB)	XP_005268080.1:p.Gly2282=
NM_001024858.3:c.6846C>T (SPTB)	NP_001020029.1:p.Gly2282=
NM_001355436.2:c.6846C>T (SPTB) MANE Select	NP_001342365.1:p.Gly2282=
XM_017021612.2:c.6846C>T (SPTB)	XP_016877101.1:p.Gly2282=
XM_024449699.1:c.6846C>T (SPTB)	XP_024305467.1:p.Gly2282=
XR_002957542.1:n.9280G>A (PLEKHG3)
NM_001308147.2:c.*5744G>A (PLEKHG3) MANE Select	NP_001295076.1:n.*5744G>A
NM_001024858.4:c.6846C>T (SPTB)	NP_001020029.1:p.Gly2282=