Canonical Allele Identifier: CA2397980941

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833577A= , CM000684.2:g.23833577A=	GRCh38
NC_000022.10:g.24175764A= , CM000684.1:g.24175764A=	GRCh37
NC_000022.9:g.22505764A=	NCBI36
NG_009303.1:g.51615A= , LRG_520:g.51615A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.854A=	ENSP00000263121.8:p.Asn285=
ENST00000344921.11:c.1019A=	ENSP00000340883.6:p.Asn340=
ENST00000407422.8:c.965A=	ENSP00000383984.3:p.Asn322=
ENST00000477836.2:n.2143A=
ENST00000644036.2:c.992A= MANE Select	ENSP00000494049.2:p.Asn331=
ENST00000644462.1:c.1710A=	ENSP00000494283.1:n.1710A=
ENST00000645799.1:n.2314A=
ENST00000646723.1:n.3338A=
ENST00000647057.1:c.*486A=	ENSP00000494757.1:n.*486A=
ENST00000263121.11:c.992A=	ENSP00000263121.7:p.Asn331=
ENST00000344921.10:c.1019A=	ENSP00000340883.6:p.Asn340=
ENST00000407082.3:c.854A=	ENSP00000385226.3:p.Asn285=
ENST00000407422.7:c.965A=	ENSP00000383984.3:p.Asn322=
NM_001007468.1:c.965A=	NP_001007469.1:p.Asn322=
NM_003073.3:c.992A= , LRG_520t1:c.992A=	NP_003064.2:p.Asn331=
XM_011530345.1:c.1046A=	XP_011528647.1:p.Asn349=
XM_011530346.1:c.1019A=	XP_011528648.1:p.Asn340=
NM_001007468.2:c.965A=	NP_001007469.1:p.Asn322=
NM_001317946.1:c.1019A=	NP_001304875.1:p.Asn340=
NM_001362877.1:c.1046A=	NP_001349806.1:p.Asn349=
NM_003073.4:c.992A=	NP_003064.2:p.Asn331=
NM_001007468.3:c.965A=	NP_001007469.1:p.Asn322=
NM_001317946.2:c.1019A=	NP_001304875.1:p.Asn340=
NM_001362877.2:c.1046A=	NP_001349806.1:p.Asn349=
NM_003073.5:c.992A= MANE Select	NP_003064.2:p.Asn331=