Canonical Allele Identifier: CA2397981089

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834143G= , CM000684.2:g.23834143G=	GRCh38
NC_000022.10:g.24176330G= , CM000684.1:g.24176330G=	GRCh37
NC_000022.9:g.22506330G=	NCBI36
NG_009303.1:g.52181G= , LRG_520:g.52181G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.983G=	ENSP00000263121.8:p.Arg328=
ENST00000344921.11:c.1148G=	ENSP00000340883.6:p.Arg383=
ENST00000407422.8:c.1094G=	ENSP00000383984.3:p.Arg365=
ENST00000644036.2:c.1121G= MANE Select	ENSP00000494049.2:p.Arg374=
ENST00000644462.1:c.1839G=	ENSP00000494283.1:n.1839G=
ENST00000645799.1:n.2443G=
ENST00000646723.1:n.3467G=
ENST00000647057.1:c.*615G=	ENSP00000494757.1:n.*615G=
ENST00000263121.11:c.1121G=	ENSP00000263121.7:p.Arg374=
ENST00000344921.10:c.1148G=	ENSP00000340883.6:p.Arg383=
ENST00000407082.3:c.983G=	ENSP00000385226.3:p.Arg328=
ENST00000407422.7:c.1094G=	ENSP00000383984.3:p.Arg365=
NM_001007468.1:c.1094G=	NP_001007469.1:p.Arg365=
NM_003073.3:c.1121G= , LRG_520t1:c.1121G=	NP_003064.2:p.Arg374=
XM_011530345.1:c.1175G=	XP_011528647.1:p.Arg392=
XM_011530346.1:c.1148G=	XP_011528648.1:p.Arg383=
NM_001007468.2:c.1094G=	NP_001007469.1:p.Arg365=
NM_001317946.1:c.1148G=	NP_001304875.1:p.Arg383=
NM_001362877.1:c.1175G=	NP_001349806.1:p.Arg392=
NM_003073.4:c.1121G=	NP_003064.2:p.Arg374=
NM_001007468.3:c.1094G=	NP_001007469.1:p.Arg365=
NM_001317946.2:c.1148G=	NP_001304875.1:p.Arg383=
NM_001362877.2:c.1175G=	NP_001349806.1:p.Arg392=
NM_003073.5:c.1121G= MANE Select	NP_003064.2:p.Arg374=