Canonical Allele Identifier: CA410912879

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1354063971
• gnomAD v3: 22-23833577-A-C
• gnomAD v4: 22-23833577-A-C
• MyVariant Identifiers: chr22:g.24175764A>C (hg19) ; chr22:g.23833577A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833577A>C , CM000684.2:g.23833577A>C	GRCh38
NC_000022.10:g.24175764A>C , CM000684.1:g.24175764A>C	GRCh37
NC_000022.9:g.22505764A>C	NCBI36
NG_009303.1:g.51615A>C , LRG_520:g.51615A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.854A>C	ENSP00000263121.8:p.Asn285Thr
ENST00000344921.11:c.1019A>C	ENSP00000340883.6:p.Asn340Thr
ENST00000407422.8:c.965A>C	ENSP00000383984.3:p.Asn322Thr
ENST00000477836.2:n.2143A>C
ENST00000644036.2:c.992A>C MANE Select	ENSP00000494049.2:p.Asn331Thr
ENST00000644462.1:c.1710A>C	ENSP00000494283.1:n.1710A>C
ENST00000645799.1:n.2314A>C
ENST00000646723.1:n.3338A>C
ENST00000647057.1:c.*486A>C	ENSP00000494757.1:n.*486A>C
ENST00000263121.11:c.992A>C	ENSP00000263121.7:p.Asn331Thr
ENST00000344921.10:c.1019A>C	ENSP00000340883.6:p.Asn340Thr
ENST00000407082.3:c.854A>C	ENSP00000385226.3:p.Asn285Thr
ENST00000407422.7:c.965A>C	ENSP00000383984.3:p.Asn322Thr
NM_001007468.1:c.965A>C	NP_001007469.1:p.Asn322Thr
NM_003073.3:c.992A>C , LRG_520t1:c.992A>C	NP_003064.2:p.Asn331Thr
XM_011530345.1:c.1046A>C	XP_011528647.1:p.Asn349Thr
XM_011530346.1:c.1019A>C	XP_011528648.1:p.Asn340Thr
NM_001007468.2:c.965A>C	NP_001007469.1:p.Asn322Thr
NM_001317946.1:c.1019A>C	NP_001304875.1:p.Asn340Thr
NM_001362877.1:c.1046A>C	NP_001349806.1:p.Asn349Thr
NM_003073.4:c.992A>C	NP_003064.2:p.Asn331Thr
NM_001007468.3:c.965A>C	NP_001007469.1:p.Asn322Thr
NM_001317946.2:c.1019A>C	NP_001304875.1:p.Asn340Thr
NM_001362877.2:c.1046A>C	NP_001349806.1:p.Asn349Thr
NM_003073.5:c.992A>C MANE Select	NP_003064.2:p.Asn331Thr