Canonical Allele Identifier: CA513739544

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1568962989
• MyVariant Identifiers: chr22:g.24175831G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833644G>C , CM000684.2:g.23833644G>C	GRCh38
NC_000022.10:g.24175831G>C , CM000684.1:g.24175831G>C	GRCh37
NC_000022.9:g.22505831G>C	NCBI36
NG_009303.1:g.51682G>C , LRG_520:g.51682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.921G>C	ENSP00000263121.8:p.Leu307=
ENST00000344921.11:c.1086G>C	ENSP00000340883.6:p.Leu362=
ENST00000407422.8:c.1032G>C	ENSP00000383984.3:p.Leu344=
ENST00000644036.2:c.1059G>C MANE Select	ENSP00000494049.2:p.Leu353=
ENST00000644462.1:c.1777G>C	ENSP00000494283.1:n.1777G>C
ENST00000645799.1:n.2381G>C
ENST00000646723.1:n.3405G>C
ENST00000647057.1:c.*553G>C	ENSP00000494757.1:n.*553G>C
ENST00000263121.11:c.1059G>C	ENSP00000263121.7:p.Leu353=
ENST00000344921.10:c.1086G>C	ENSP00000340883.6:p.Leu362=
ENST00000407082.3:c.921G>C	ENSP00000385226.3:p.Leu307=
ENST00000407422.7:c.1032G>C	ENSP00000383984.3:p.Leu344=
NM_001007468.1:c.1032G>C	NP_001007469.1:p.Leu344=
NM_003073.3:c.1059G>C , LRG_520t1:c.1059G>C	NP_003064.2:p.Leu353=
XM_011530345.1:c.1113G>C	XP_011528647.1:p.Leu371=
XM_011530346.1:c.1086G>C	XP_011528648.1:p.Leu362=
NM_001007468.2:c.1032G>C	NP_001007469.1:p.Leu344=
NM_001317946.1:c.1086G>C	NP_001304875.1:p.Leu362=
NM_001362877.1:c.1113G>C	NP_001349806.1:p.Leu371=
NM_003073.4:c.1059G>C	NP_003064.2:p.Leu353=
NM_001007468.3:c.1032G>C	NP_001007469.1:p.Leu344=
NM_001317946.2:c.1086G>C	NP_001304875.1:p.Leu362=
NM_001362877.2:c.1113G>C	NP_001349806.1:p.Leu371=
NM_003073.5:c.1059G>C MANE Select	NP_003064.2:p.Leu353=