Canonical Allele Identifier: CA638690138

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1481293622
• gnomAD v2: 22-24176388-T-C
• gnomAD v4: 22-23834201-T-C
• MyVariant Identifiers: chr22:g.24176388T>C (hg19) ; chr22:g.23834201T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834201T>C , CM000684.2:g.23834201T>C	GRCh38
NC_000022.10:g.24176388T>C , CM000684.1:g.24176388T>C	GRCh37
NC_000022.9:g.22506388T>C	NCBI36
NG_009303.1:g.52239T>C , LRG_520:g.52239T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*21T>C	ENSP00000263121.8:n.*21T>C
ENST00000344921.11:c.*21T>C	ENSP00000340883.6:n.*21T>C
ENST00000407422.8:c.*21T>C	ENSP00000383984.3:n.*21T>C
ENST00000644036.2:c.*21T>C MANE Select	ENSP00000494049.2:n.*21T>C
ENST00000644462.1:c.1897T>C	ENSP00000494283.1:n.1897T>C
ENST00000645799.1:n.2501T>C
ENST00000646723.1:n.3525T>C
ENST00000647057.1:c.*673T>C	ENSP00000494757.1:n.*673T>C
ENST00000263121.11:c.*21T>C	ENSP00000263121.7:n.*21T>C
ENST00000344921.10:c.*21T>C	ENSP00000340883.6:n.*21T>C
ENST00000407422.7:c.*21T>C	ENSP00000383984.3:n.*21T>C
NM_001007468.1:c.*21T>C	NP_001007469.1:n.*21T>C
NM_003073.3:c.*21T>C , LRG_520t1:c.*21T>C	NP_003064.2:n.*21T>C
XM_011530345.1:c.*21T>C	XP_011528647.1:n.*21T>C
XM_011530346.1:c.*21T>C	XP_011528648.1:n.*21T>C
NM_001007468.2:c.*21T>C	NP_001007469.1:n.*21T>C
NM_001317946.1:c.*21T>C	NP_001304875.1:n.*21T>C
NM_001362877.1:c.*21T>C	NP_001349806.1:n.*21T>C
NM_003073.4:c.*21T>C	NP_003064.2:n.*21T>C
NM_001007468.3:c.*21T>C	NP_001007469.1:n.*21T>C
NM_001317946.2:c.*21T>C	NP_001304875.1:n.*21T>C
NM_001362877.2:c.*21T>C	NP_001349806.1:n.*21T>C
NM_003073.5:c.*21T>C MANE Select	NP_003064.2:n.*21T>C