Canonical Allele Identifier: CA410934287

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23800945G>T , CM000684.2:g.23800945G>T	GRCh38
NC_000022.10:g.24143132G>T , CM000684.1:g.24143132G>T	GRCh37
NC_000022.9:g.22473132G>T	NCBI36
NG_009303.1:g.18983G>T , LRG_520:g.18983G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003073.5:c.364G>T MANE Select	NP_003064.2:p.Glu122Ter
ENST00000644036.2:c.364G>T MANE Select	ENSP00000494049.2:p.Glu122Ter
NM_001007468.1:c.337G>T	NP_001007469.1:p.Glu113Ter
NM_001007468.2:c.337G>T	NP_001007469.1:p.Glu113Ter
NM_001007468.3:c.337G>T	NP_001007469.1:p.Glu113Ter
NM_001317946.1:c.337G>T	NP_001304875.1:p.Glu113Ter
NM_001317946.2:c.337G>T	NP_001304875.1:p.Glu113Ter
NM_001362877.1:c.364G>T	NP_001349806.1:p.Glu122Ter
NM_001362877.2:c.364G>T	NP_001349806.1:p.Glu122Ter
NM_003073.3:c.364G>T , LRG_520t1:c.364G>T	NP_003064.2:p.Glu122Ter
NM_003073.4:c.364G>T	NP_003064.2:p.Glu122Ter
ENST00000263121.11:c.364G>T	ENSP00000263121.7:p.Glu122Ter
ENST00000263121.12:c.363-2350G>T	ENSP00000263121.8:n.363-2350G>T
ENST00000344921.10:c.337G>T	ENSP00000340883.6:p.Glu113Ter
ENST00000344921.11:c.337G>T	ENSP00000340883.6:p.Glu113Ter
ENST00000407082.3:c.363-2350G>T	ENSP00000385226.3:n.363-2350G>T
ENST00000407082.4:c.336-2350G>T	ENSP00000385226.4:n.336-2350G>T
ENST00000407422.7:c.337G>T	ENSP00000383984.3:p.Glu113Ter
ENST00000407422.8:c.337G>T	ENSP00000383984.3:p.Glu113Ter
ENST00000417137.5:c.364G>T	ENSP00000388489.1:p.Glu122Ter
ENST00000417137.6:c.364G>T	ENSP00000388489.2:p.Glu122Ter
ENST00000491967.1:n.90G>T
ENST00000491967.2:n.527G>T
ENST00000634926.1:c.216G>T
ENST00000635578.1:c.189G>T
ENST00000643421.1:n.332G>T
ENST00000644462.1:c.199G>T	ENSP00000494283.1:p.Glu67Ter
ENST00000644619.1:c.364G>T	ENSP00000494695.1:p.Glu122Ter
ENST00000646421.1:n.2220G>T
ENST00000646723.1:n.352G>T
ENST00000646911.1:n.276G>T
ENST00000647057.1:c.95G>T	ENSP00000494757.1:p.Gly32Val
XM_011530345.1:c.364G>T	XP_011528647.1:p.Glu122Ter
XM_011530346.1:c.337G>T	XP_011528648.1:p.Glu113Ter