Canonical Allele Identifier: CA10583893

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 239481
• ClinVar RCV Id: RCV000231611 ; RCV000656363 ; RCV000626834 ; RCV003298297
• dbSNP Id: rs878854600
• gnomAD v4: 22-23834262-C-T
• MyVariant Identifiers: chr22:g.24176449C>T (hg19) ; chr22:g.23834262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834262C>T , CM000684.2:g.23834262C>T	GRCh38
NC_000022.10:g.24176449C>T , CM000684.1:g.24176449C>T	GRCh37
NC_000022.9:g.22506449C>T	NCBI36
NG_009303.1:g.52300C>T , LRG_520:g.52300C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*82C>T	ENSP00000263121.8:n.*82C>T
ENST00000344921.11:c.*82C>T	ENSP00000340883.6:n.*82C>T
ENST00000407422.8:c.*82C>T	ENSP00000383984.3:n.*82C>T
ENST00000644036.2:c.*82C>T MANE Select	ENSP00000494049.2:n.*82C>T
ENST00000644462.1:c.1958C>T	ENSP00000494283.1:n.1958C>T
ENST00000645799.1:n.2562C>T
ENST00000646723.1:n.3586C>T
ENST00000647057.1:c.*734C>T	ENSP00000494757.1:n.*734C>T
ENST00000263121.11:c.*82C>T	ENSP00000263121.7:n.*82C>T
ENST00000344921.10:c.*82C>T	ENSP00000340883.6:n.*82C>T
ENST00000407422.7:c.*82C>T	ENSP00000383984.3:n.*82C>T
NM_001007468.1:c.*82C>T	NP_001007469.1:n.*82C>T
NM_003073.3:c.*82C>T , LRG_520t1:c.*82C>T	NP_003064.2:n.*82C>T
XM_011530345.1:c.*82C>T	XP_011528647.1:n.*82C>T
XM_011530346.1:c.*82C>T	XP_011528648.1:n.*82C>T
NM_001007468.2:c.*82C>T	NP_001007469.1:n.*82C>T
NM_001317946.1:c.*82C>T	NP_001304875.1:n.*82C>T
NM_001362877.1:c.*82C>T	NP_001349806.1:n.*82C>T
NM_003073.4:c.*82C>T	NP_003064.2:n.*82C>T
NM_001007468.3:c.*82C>T	NP_001007469.1:n.*82C>T
NM_001317946.2:c.*82C>T	NP_001304875.1:n.*82C>T
NM_001362877.2:c.*82C>T	NP_001349806.1:n.*82C>T
NM_003073.5:c.*82C>T MANE Select	NP_003064.2:n.*82C>T