Canonical Allele Identifier: CA410912861

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2146041643
• MyVariant Identifiers: chr22:g.24175762G>C (hg19) ; chr22:g.23833575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833575G>C , CM000684.2:g.23833575G>C	GRCh38
NC_000022.10:g.24175762G>C , CM000684.1:g.24175762G>C	GRCh37
NC_000022.9:g.22505762G>C	NCBI36
NG_009303.1:g.51613G>C , LRG_520:g.51613G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.852G>C	ENSP00000263121.8:p.Glu284Asp
ENST00000344921.11:c.1017G>C	ENSP00000340883.6:p.Glu339Asp
ENST00000407422.8:c.963G>C	ENSP00000383984.3:p.Glu321Asp
ENST00000477836.2:n.2141G>C
ENST00000644036.2:c.990G>C MANE Select	ENSP00000494049.2:p.Glu330Asp
ENST00000644462.1:c.1708G>C	ENSP00000494283.1:n.1708G>C
ENST00000645799.1:n.2312G>C
ENST00000646723.1:n.3336G>C
ENST00000647057.1:c.*484G>C	ENSP00000494757.1:n.*484G>C
ENST00000263121.11:c.990G>C	ENSP00000263121.7:p.Glu330Asp
ENST00000344921.10:c.1017G>C	ENSP00000340883.6:p.Glu339Asp
ENST00000407082.3:c.852G>C	ENSP00000385226.3:p.Glu284Asp
ENST00000407422.7:c.963G>C	ENSP00000383984.3:p.Glu321Asp
NM_001007468.1:c.963G>C	NP_001007469.1:p.Glu321Asp
NM_003073.3:c.990G>C , LRG_520t1:c.990G>C	NP_003064.2:p.Glu330Asp
XM_011530345.1:c.1044G>C	XP_011528647.1:p.Glu348Asp
XM_011530346.1:c.1017G>C	XP_011528648.1:p.Glu339Asp
NM_001007468.2:c.963G>C	NP_001007469.1:p.Glu321Asp
NM_001317946.1:c.1017G>C	NP_001304875.1:p.Glu339Asp
NM_001362877.1:c.1044G>C	NP_001349806.1:p.Glu348Asp
NM_003073.4:c.990G>C	NP_003064.2:p.Glu330Asp
NM_001007468.3:c.963G>C	NP_001007469.1:p.Glu321Asp
NM_001317946.2:c.1017G>C	NP_001304875.1:p.Glu339Asp
NM_001362877.2:c.1044G>C	NP_001349806.1:p.Glu348Asp
NM_003073.5:c.990G>C MANE Select	NP_003064.2:p.Glu330Asp