Canonical Allele Identifier: CA2397961366

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793686C= , CM000684.2:g.23793686C=	GRCh38
NC_000022.10:g.24135873C= , CM000684.1:g.24135873C=	GRCh37
NC_000022.9:g.22465873C=	NCBI36
NG_009303.1:g.11724C= , LRG_520:g.11724C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.360C=	ENSP00000263121.8:p.Leu120=
ENST00000344921.11:c.333C=	ENSP00000340883.6:p.Leu111=
ENST00000407082.4:c.333C=	ENSP00000385226.4:p.Leu111=
ENST00000407422.8:c.333C=	ENSP00000383984.3:p.Leu111=
ENST00000417137.6:c.360C=	ENSP00000388489.2:p.Leu120=
ENST00000491967.2:n.523C=
ENST00000643421.1:n.328C=
ENST00000644036.2:c.360C= MANE Select	ENSP00000494049.2:p.Leu120=
ENST00000644462.1:c.195C=	ENSP00000494283.1:p.Leu65=
ENST00000644619.1:c.360C=	ENSP00000494695.1:p.Leu120=
ENST00000646421.1:n.2216C=
ENST00000646723.1:n.348C=
ENST00000646911.1:n.272C=
ENST00000647057.1:c.93+6424C=	ENSP00000494757.1:n.93+6424C=
ENST00000263121.11:c.360C=	ENSP00000263121.7:p.Leu120=
ENST00000344921.10:c.333C=	ENSP00000340883.6:p.Leu111=
ENST00000407082.3:c.360C=	ENSP00000385226.3:p.Leu120=
ENST00000407422.7:c.333C=	ENSP00000383984.3:p.Leu111=
ENST00000417137.5:c.360C=	ENSP00000388489.1:p.Leu120=
ENST00000491967.1:n.86C=
ENST00000634926.1:c.212C=
ENST00000635578.1:c.185C=
NM_001007468.1:c.333C=	NP_001007469.1:p.Leu111=
NM_003073.3:c.360C= , LRG_520t1:c.360C=	NP_003064.2:p.Leu120=
XM_011530345.1:c.360C=	XP_011528647.1:p.Leu120=
XM_011530346.1:c.333C=	XP_011528648.1:p.Leu111=
NM_001007468.2:c.333C=	NP_001007469.1:p.Leu111=
NM_001317946.1:c.333C=	NP_001304875.1:p.Leu111=
NM_001362877.1:c.360C=	NP_001349806.1:p.Leu120=
NM_003073.4:c.360C=	NP_003064.2:p.Leu120=
NM_001007468.3:c.333C=	NP_001007469.1:p.Leu111=
NM_001317946.2:c.333C=	NP_001304875.1:p.Leu111=
NM_001362877.2:c.360C=	NP_001349806.1:p.Leu120=
NM_003073.5:c.360C= MANE Select	NP_003064.2:p.Leu120=