Canonical Allele Identifier: CA2577663366

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2146044555
• gnomAD v4: 22-23834101-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834101A>C , CM000684.2:g.23834101A>C	GRCh38
NC_000022.10:g.24176288A>C , CM000684.1:g.24176288A>C	GRCh37
NC_000022.9:g.22506288A>C	NCBI36
NG_009303.1:g.52139A>C , LRG_520:g.52139A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.981-40A>C	ENSP00000263121.8:n.981-40A>C
ENST00000344921.11:c.1146-40A>C	ENSP00000340883.6:n.1146-40A>C
ENST00000407422.8:c.1092-40A>C	ENSP00000383984.3:n.1092-40A>C
ENST00000644036.2:c.1119-40A>C MANE Select	ENSP00000494049.2:n.1119-40A>C
ENST00000644462.1:c.1837-40A>C	ENSP00000494283.1:n.1837-40A>C
ENST00000645799.1:n.2441-40A>C
ENST00000646723.1:n.3465-40A>C
ENST00000647057.1:c.*613-40A>C	ENSP00000494757.1:n.*613-40A>C
ENST00000263121.11:c.1119-40A>C	ENSP00000263121.7:n.1119-40A>C
ENST00000344921.10:c.1146-40A>C	ENSP00000340883.6:n.1146-40A>C
ENST00000407082.3:c.981-40A>C	ENSP00000385226.3:n.981-40A>C
ENST00000407422.7:c.1092-40A>C	ENSP00000383984.3:n.1092-40A>C
NM_001007468.1:c.1092-40A>C	NP_001007469.1:n.1092-40A>C
NM_003073.3:c.1119-40A>C , LRG_520t1:c.1119-40A>C	NP_003064.2:n.1119-40A>C
XM_011530345.1:c.1173-40A>C	XP_011528647.1:n.1173-40A>C
XM_011530346.1:c.1146-40A>C	XP_011528648.1:n.1146-40A>C
NM_001007468.2:c.1092-40A>C	NP_001007469.1:n.1092-40A>C
NM_001317946.1:c.1146-40A>C	NP_001304875.1:n.1146-40A>C
NM_001362877.1:c.1173-40A>C	NP_001349806.1:n.1173-40A>C
NM_003073.4:c.1119-40A>C	NP_003064.2:n.1119-40A>C
NM_001007468.3:c.1092-40A>C	NP_001007469.1:n.1092-40A>C
NM_001317946.2:c.1146-40A>C	NP_001304875.1:n.1146-40A>C
NM_001362877.2:c.1173-40A>C	NP_001349806.1:n.1173-40A>C
NM_003073.5:c.1119-40A>C MANE Select	NP_003064.2:n.1119-40A>C