Canonical Allele Identifier: CA410913717

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24175857A>C (hg19) ; chr22:g.23833670A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833670A>C , CM000684.2:g.23833670A>C	GRCh38
NC_000022.10:g.24175857A>C , CM000684.1:g.24175857A>C	GRCh37
NC_000022.9:g.22505857A>C	NCBI36
NG_009303.1:g.51708A>C , LRG_520:g.51708A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.947A>C	ENSP00000263121.8:p.Glu316Ala
ENST00000344921.11:c.1112A>C	ENSP00000340883.6:p.Glu371Ala
ENST00000407422.8:c.1058A>C	ENSP00000383984.3:p.Glu353Ala
ENST00000644036.2:c.1085A>C MANE Select	ENSP00000494049.2:p.Glu362Ala
ENST00000644462.1:c.1803A>C	ENSP00000494283.1:n.1803A>C
ENST00000645799.1:n.2407A>C
ENST00000646723.1:n.3431A>C
ENST00000647057.1:c.*579A>C	ENSP00000494757.1:n.*579A>C
ENST00000263121.11:c.1085A>C	ENSP00000263121.7:p.Glu362Ala
ENST00000344921.10:c.1112A>C	ENSP00000340883.6:p.Glu371Ala
ENST00000407082.3:c.947A>C	ENSP00000385226.3:p.Glu316Ala
ENST00000407422.7:c.1058A>C	ENSP00000383984.3:p.Glu353Ala
NM_001007468.1:c.1058A>C	NP_001007469.1:p.Glu353Ala
NM_003073.3:c.1085A>C , LRG_520t1:c.1085A>C	NP_003064.2:p.Glu362Ala
XM_011530345.1:c.1139A>C	XP_011528647.1:p.Glu380Ala
XM_011530346.1:c.1112A>C	XP_011528648.1:p.Glu371Ala
NM_001007468.2:c.1058A>C	NP_001007469.1:p.Glu353Ala
NM_001317946.1:c.1112A>C	NP_001304875.1:p.Glu371Ala
NM_001362877.1:c.1139A>C	NP_001349806.1:p.Glu380Ala
NM_003073.4:c.1085A>C	NP_003064.2:p.Glu362Ala
NM_001007468.3:c.1058A>C	NP_001007469.1:p.Glu353Ala
NM_001317946.2:c.1112A>C	NP_001304875.1:p.Glu371Ala
NM_001362877.2:c.1139A>C	NP_001349806.1:p.Glu380Ala
NM_003073.5:c.1085A>C MANE Select	NP_003064.2:p.Glu362Ala