Canonical Allele Identifier: CA10588715

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 265393
• ClinVar RCV Id: RCV000255465 ; RCV001782753
• dbSNP Id: rs886039520
• COSMIC: COSM4728320 ; COSM4728321
• MyVariant Identifiers: chr22:g.24175868C>T (hg19) ; chr22:g.23833681C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833681C>T , CM000684.2:g.23833681C>T	GRCh38
NC_000022.10:g.24175868C>T , CM000684.1:g.24175868C>T	GRCh37
NC_000022.9:g.22505868C>T	NCBI36
NG_009303.1:g.51719C>T , LRG_520:g.51719C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.958C>T	ENSP00000263121.8:p.Arg320Cys
ENST00000344921.11:c.1123C>T	ENSP00000340883.6:p.Arg375Cys
ENST00000407422.8:c.1069C>T	ENSP00000383984.3:p.Arg357Cys
ENST00000644036.2:c.1096C>T MANE Select	ENSP00000494049.2:p.Arg366Cys
ENST00000644462.1:c.1814C>T	ENSP00000494283.1:n.1814C>T
ENST00000645799.1:n.2418C>T
ENST00000646723.1:n.3442C>T
ENST00000647057.1:c.*590C>T	ENSP00000494757.1:n.*590C>T
ENST00000263121.11:c.1096C>T	ENSP00000263121.7:p.Arg366Cys
ENST00000344921.10:c.1123C>T	ENSP00000340883.6:p.Arg375Cys
ENST00000407082.3:c.958C>T	ENSP00000385226.3:p.Arg320Cys
ENST00000407422.7:c.1069C>T	ENSP00000383984.3:p.Arg357Cys
NM_001007468.1:c.1069C>T	NP_001007469.1:p.Arg357Cys
NM_003073.3:c.1096C>T , LRG_520t1:c.1096C>T	NP_003064.2:p.Arg366Cys
XM_011530345.1:c.1150C>T	XP_011528647.1:p.Arg384Cys
XM_011530346.1:c.1123C>T	XP_011528648.1:p.Arg375Cys
NM_001007468.2:c.1069C>T	NP_001007469.1:p.Arg357Cys
NM_001317946.1:c.1123C>T	NP_001304875.1:p.Arg375Cys
NM_001362877.1:c.1150C>T	NP_001349806.1:p.Arg384Cys
NM_003073.4:c.1096C>T	NP_003064.2:p.Arg366Cys
NM_001007468.3:c.1069C>T	NP_001007469.1:p.Arg357Cys
NM_001317946.2:c.1123C>T	NP_001304875.1:p.Arg375Cys
NM_001362877.2:c.1150C>T	NP_001349806.1:p.Arg384Cys
NM_003073.5:c.1096C>T MANE Select	NP_003064.2:p.Arg366Cys