Canonical Allele Identifier: CA3244240246

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23825380A= , CM000684.2:g.23825380A=	GRCh38
NC_000022.10:g.24167567A= , CM000684.1:g.24167567A=	GRCh37
NC_000022.9:g.22497567A=	NCBI36
NG_009303.1:g.43418A= , LRG_520:g.43418A=

Transcript Alleles

HGVS	Amino-acid Change
NM_003073.5:c.951A= MANE Select	NP_003064.2:p.Gly317=
ENST00000644036.2:c.951A= MANE Select	ENSP00000494049.2:p.Gly317=
NM_001007468.1:c.924A=	NP_001007469.1:p.Gly308=
NM_001007468.2:c.924A=	NP_001007469.1:p.Gly308=
NM_001007468.3:c.924A=	NP_001007469.1:p.Gly308=
NM_001317946.1:c.978A=	NP_001304875.1:p.Gly326=
NM_001317946.2:c.978A=	NP_001304875.1:p.Gly326=
NM_001362877.1:c.1005A=	NP_001349806.1:p.Gly335=
NM_001362877.2:c.1005A=	NP_001349806.1:p.Gly335=
NM_003073.3:c.951A= , LRG_520t1:c.951A=	NP_003064.2:p.Gly317=
NM_003073.4:c.951A=	NP_003064.2:p.Gly317=
ENST00000263121.11:c.951A=	ENSP00000263121.7:p.Gly317=
ENST00000263121.12:c.813A=	ENSP00000263121.8:p.Gly271=
ENST00000344921.10:c.978A=	ENSP00000340883.6:p.Gly326=
ENST00000344921.11:c.978A=	ENSP00000340883.6:p.Gly326=
ENST00000407082.3:c.813A=	ENSP00000385226.3:p.Gly271=
ENST00000407422.7:c.924A=	ENSP00000383984.3:p.Gly308=
ENST00000407422.8:c.924A=	ENSP00000383984.3:p.Gly308=
ENST00000477836.2:n.2102A=
ENST00000644462.1:c.1669A=	ENSP00000494283.1:n.1669A=
ENST00000645799.1:n.2273A=
ENST00000646723.1:n.3297A=
ENST00000646911.1:n.863A=
ENST00000647057.1:c.*445A=	ENSP00000494757.1:n.*445A=
XM_011530345.1:c.1005A=	XP_011528647.1:p.Gly335=
XM_011530346.1:c.978A=	XP_011528648.1:p.Gly326=