Canonical Allele Identifier: CA7229332

Gene: PLEKHG3 SPTB

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64749402C>T , CM000676.2:g.64749402C>T	GRCh38
NC_000014.8:g.65216120C>T , CM000676.1:g.65216120C>T	GRCh37
NC_000014.7:g.64285873C>T	NCBI36
NG_016202.1:g.78747G>A
NG_016202.2:g.135491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634379.2:c.*5699C>T (PLEKHG3)	ENSP00000489373.2:n.*5699C>T
ENST00000247226.13:c.*5699C>T (PLEKHG3) MANE Select	ENSP00000247226.8:n.*5699C>T
ENST00000342835.9:n.628G>A (SPTB)
ENST00000644917.1:c.6891G>A (SPTB) MANE Select	ENSP00000495909.1:p.Ala2297=
ENST00000247226.12:c.*5699C>T (PLEKHG3)	ENSP00000247226.8:n.*5699C>T
ENST00000342835.8:n.628G>A (SPTB)
ENST00000389722.7:c.6891G>A (SPTB)	ENSP00000374372.3:p.Ala2297=
ENST00000553938.5:c.2991G>A (SPTB)	ENSP00000451324.1:p.Ala997=
ENST00000556227.1:n.4294G>A (SPTB)
ENST00000556626.5:c.6891G>A (SPTB)	ENSP00000451752.1:p.Ala2297=
NM_001024858.2:c.6891G>A (SPTB)	NP_001020029.1:p.Ala2297=
XM_005268023.3:c.6891G>A (SPTB)	XP_005268080.1:p.Ala2297=
NM_001024858.3:c.6891G>A (SPTB)	NP_001020029.1:p.Ala2297=
NM_001355436.2:c.6891G>A (SPTB) MANE Select	NP_001342365.1:p.Ala2297=
XM_017021612.2:c.6891G>A (SPTB)	XP_016877101.1:p.Ala2297=
XM_024449699.1:c.6891G>A (SPTB)	XP_024305467.1:p.Ala2297=
XR_002957542.1:n.9235C>T (PLEKHG3)
NM_001308147.2:c.*5699C>T (PLEKHG3) MANE Select	NP_001295076.1:n.*5699C>T
NM_001024858.4:c.6891G>A (SPTB)	NP_001020029.1:p.Ala2297=