Canonical Allele Identifier: CA10146128

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 281915
• ClinVar RCV Id: RCV000313849 ; RCV000465162 ; RCV000575989 ; RCV003316460 ; RCV003909918
• dbSNP Id: rs144863210
• ExAC: 22:24176340 T / C
• gnomAD v2: 22-24176340-T-C
• gnomAD v3: 22-23834153-T-C
• gnomAD v4: 22-23834153-T-C
• MyVariant Identifiers: chr22:g.24176340T>C (hg19) ; chr22:g.23834153T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834153T>C , CM000684.2:g.23834153T>C	GRCh38
NC_000022.10:g.24176340T>C , CM000684.1:g.24176340T>C	GRCh37
NC_000022.9:g.22506340T>C	NCBI36
NG_009303.1:g.52191T>C , LRG_520:g.52191T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.993T>C	ENSP00000263121.8:p.Arg331=
ENST00000344921.11:c.1158T>C	ENSP00000340883.6:p.Arg386=
ENST00000407422.8:c.1104T>C	ENSP00000383984.3:p.Arg368=
ENST00000644036.2:c.1131T>C MANE Select	ENSP00000494049.2:p.Arg377=
ENST00000644462.1:c.1849T>C	ENSP00000494283.1:n.1849T>C
ENST00000645799.1:n.2453T>C
ENST00000646723.1:n.3477T>C
ENST00000647057.1:c.*625T>C	ENSP00000494757.1:n.*625T>C
ENST00000263121.11:c.1131T>C	ENSP00000263121.7:p.Arg377=
ENST00000344921.10:c.1158T>C	ENSP00000340883.6:p.Arg386=
ENST00000407082.3:c.993T>C	ENSP00000385226.3:p.Arg331=
ENST00000407422.7:c.1104T>C	ENSP00000383984.3:p.Arg368=
NM_001007468.1:c.1104T>C	NP_001007469.1:p.Arg368=
NM_003073.3:c.1131T>C , LRG_520t1:c.1131T>C	NP_003064.2:p.Arg377=
XM_011530345.1:c.1185T>C	XP_011528647.1:p.Arg395=
XM_011530346.1:c.1158T>C	XP_011528648.1:p.Arg386=
NM_001007468.2:c.1104T>C	NP_001007469.1:p.Arg368=
NM_001317946.1:c.1158T>C	NP_001304875.1:p.Arg386=
NM_001362877.1:c.1185T>C	NP_001349806.1:p.Arg395=
NM_003073.4:c.1131T>C	NP_003064.2:p.Arg377=
NM_001007468.3:c.1104T>C	NP_001007469.1:p.Arg368=
NM_001317946.2:c.1158T>C	NP_001304875.1:p.Arg386=
NM_001362877.2:c.1185T>C	NP_001349806.1:p.Arg395=
NM_003073.5:c.1131T>C MANE Select	NP_003064.2:p.Arg377=