Canonical Allele Identifier: CA410914548

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 1723239
• ClinVar RCV Id: RCV002308515
• MyVariant Identifiers: chr22:g.24176336G>C (hg19) ; chr22:g.23834149G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834149G>C , CM000684.2:g.23834149G>C	GRCh38
NC_000022.10:g.24176336G>C , CM000684.1:g.24176336G>C	GRCh37
NC_000022.9:g.22506336G>C	NCBI36
NG_009303.1:g.52187G>C , LRG_520:g.52187G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.989G>C	ENSP00000263121.8:p.Arg330Thr
ENST00000344921.11:c.1154G>C	ENSP00000340883.6:p.Arg385Thr
ENST00000407422.8:c.1100G>C	ENSP00000383984.3:p.Arg367Thr
ENST00000644036.2:c.1127G>C MANE Select	ENSP00000494049.2:p.Arg376Thr
ENST00000644462.1:c.1845G>C	ENSP00000494283.1:n.1845G>C
ENST00000645799.1:n.2449G>C
ENST00000646723.1:n.3473G>C
ENST00000647057.1:c.*621G>C	ENSP00000494757.1:n.*621G>C
ENST00000263121.11:c.1127G>C	ENSP00000263121.7:p.Arg376Thr
ENST00000344921.10:c.1154G>C	ENSP00000340883.6:p.Arg385Thr
ENST00000407082.3:c.989G>C	ENSP00000385226.3:p.Arg330Thr
ENST00000407422.7:c.1100G>C	ENSP00000383984.3:p.Arg367Thr
NM_001007468.1:c.1100G>C	NP_001007469.1:p.Arg367Thr
NM_003073.3:c.1127G>C , LRG_520t1:c.1127G>C	NP_003064.2:p.Arg376Thr
XM_011530345.1:c.1181G>C	XP_011528647.1:p.Arg394Thr
XM_011530346.1:c.1154G>C	XP_011528648.1:p.Arg385Thr
NM_001007468.2:c.1100G>C	NP_001007469.1:p.Arg367Thr
NM_001317946.1:c.1154G>C	NP_001304875.1:p.Arg385Thr
NM_001362877.1:c.1181G>C	NP_001349806.1:p.Arg394Thr
NM_003073.4:c.1127G>C	NP_003064.2:p.Arg376Thr
NM_001007468.3:c.1100G>C	NP_001007469.1:p.Arg367Thr
NM_001317946.2:c.1154G>C	NP_001304875.1:p.Arg385Thr
NM_001362877.2:c.1181G>C	NP_001349806.1:p.Arg394Thr
NM_003073.5:c.1127G>C MANE Select	NP_003064.2:p.Arg376Thr