Canonical Allele Identifier: CA2397981097

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834155T= , CM000684.2:g.23834155T=	GRCh38
NC_000022.10:g.24176342T= , CM000684.1:g.24176342T=	GRCh37
NC_000022.9:g.22506342T=	NCBI36
NG_009303.1:g.52193T= , LRG_520:g.52193T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.995T=	ENSP00000263121.8:p.Leu332=
ENST00000344921.11:c.1160T=	ENSP00000340883.6:p.Leu387=
ENST00000407422.8:c.1106T=	ENSP00000383984.3:p.Leu369=
ENST00000644036.2:c.1133T= MANE Select	ENSP00000494049.2:p.Leu378=
ENST00000644462.1:c.1851T=	ENSP00000494283.1:n.1851T=
ENST00000645799.1:n.2455T=
ENST00000646723.1:n.3479T=
ENST00000647057.1:c.*627T=	ENSP00000494757.1:n.*627T=
ENST00000263121.11:c.1133T=	ENSP00000263121.7:p.Leu378=
ENST00000344921.10:c.1160T=	ENSP00000340883.6:p.Leu387=
ENST00000407082.3:c.995T=	ENSP00000385226.3:p.Leu332=
ENST00000407422.7:c.1106T=	ENSP00000383984.3:p.Leu369=
NM_001007468.1:c.1106T=	NP_001007469.1:p.Leu369=
NM_003073.3:c.1133T= , LRG_520t1:c.1133T=	NP_003064.2:p.Leu378=
XM_011530345.1:c.1187T=	XP_011528647.1:p.Leu396=
XM_011530346.1:c.1160T=	XP_011528648.1:p.Leu387=
NM_001007468.2:c.1106T=	NP_001007469.1:p.Leu369=
NM_001317946.1:c.1160T=	NP_001304875.1:p.Leu387=
NM_001362877.1:c.1187T=	NP_001349806.1:p.Leu396=
NM_003073.4:c.1133T=	NP_003064.2:p.Leu378=
NM_001007468.3:c.1106T=	NP_001007469.1:p.Leu369=
NM_001317946.2:c.1160T=	NP_001304875.1:p.Leu387=
NM_001362877.2:c.1187T=	NP_001349806.1:p.Leu396=
NM_003073.5:c.1133T= MANE Select	NP_003064.2:p.Leu378=