Canonical Allele Identifier: CA2397980942

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833582C= , CM000684.2:g.23833582C=	GRCh38
NC_000022.10:g.24175769C= , CM000684.1:g.24175769C=	GRCh37
NC_000022.9:g.22505769C=	NCBI36
NG_009303.1:g.51620C= , LRG_520:g.51620C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.859C=	ENSP00000263121.8:p.Leu287=
ENST00000344921.11:c.1024C=	ENSP00000340883.6:p.Leu342=
ENST00000407422.8:c.970C=	ENSP00000383984.3:p.Leu324=
ENST00000477836.2:n.2148C=
ENST00000644036.2:c.997C= MANE Select	ENSP00000494049.2:p.Leu333=
ENST00000644462.1:c.1715C=	ENSP00000494283.1:n.1715C=
ENST00000645799.1:n.2319C=
ENST00000646723.1:n.3343C=
ENST00000647057.1:c.*491C=	ENSP00000494757.1:n.*491C=
ENST00000263121.11:c.997C=	ENSP00000263121.7:p.Leu333=
ENST00000344921.10:c.1024C=	ENSP00000340883.6:p.Leu342=
ENST00000407082.3:c.859C=	ENSP00000385226.3:p.Leu287=
ENST00000407422.7:c.970C=	ENSP00000383984.3:p.Leu324=
NM_001007468.1:c.970C=	NP_001007469.1:p.Leu324=
NM_003073.3:c.997C= , LRG_520t1:c.997C=	NP_003064.2:p.Leu333=
XM_011530345.1:c.1051C=	XP_011528647.1:p.Leu351=
XM_011530346.1:c.1024C=	XP_011528648.1:p.Leu342=
NM_001007468.2:c.970C=	NP_001007469.1:p.Leu324=
NM_001317946.1:c.1024C=	NP_001304875.1:p.Leu342=
NM_001362877.1:c.1051C=	NP_001349806.1:p.Leu351=
NM_003073.4:c.997C=	NP_003064.2:p.Leu333=
NM_001007468.3:c.970C=	NP_001007469.1:p.Leu324=
NM_001317946.2:c.1024C=	NP_001304875.1:p.Leu342=
NM_001362877.2:c.1051C=	NP_001349806.1:p.Leu351=
NM_003073.5:c.997C= MANE Select	NP_003064.2:p.Leu333=