Canonical Allele Identifier: CA513739663

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1568963037
• MyVariant Identifiers: chr22:g.24175861G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833674G>A , CM000684.2:g.23833674G>A	GRCh38
NC_000022.10:g.24175861G>A , CM000684.1:g.24175861G>A	GRCh37
NC_000022.9:g.22505861G>A	NCBI36
NG_009303.1:g.51712G>A , LRG_520:g.51712G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.951G>A	ENSP00000263121.8:p.Lys317=
ENST00000344921.11:c.1116G>A	ENSP00000340883.6:p.Lys372=
ENST00000407422.8:c.1062G>A	ENSP00000383984.3:p.Lys354=
ENST00000644036.2:c.1089G>A MANE Select	ENSP00000494049.2:p.Lys363=
ENST00000644462.1:c.1807G>A	ENSP00000494283.1:n.1807G>A
ENST00000645799.1:n.2411G>A
ENST00000646723.1:n.3435G>A
ENST00000647057.1:c.*583G>A	ENSP00000494757.1:n.*583G>A
ENST00000263121.11:c.1089G>A	ENSP00000263121.7:p.Lys363=
ENST00000344921.10:c.1116G>A	ENSP00000340883.6:p.Lys372=
ENST00000407082.3:c.951G>A	ENSP00000385226.3:p.Lys317=
ENST00000407422.7:c.1062G>A	ENSP00000383984.3:p.Lys354=
NM_001007468.1:c.1062G>A	NP_001007469.1:p.Lys354=
NM_003073.3:c.1089G>A , LRG_520t1:c.1089G>A	NP_003064.2:p.Lys363=
XM_011530345.1:c.1143G>A	XP_011528647.1:p.Lys381=
XM_011530346.1:c.1116G>A	XP_011528648.1:p.Lys372=
NM_001007468.2:c.1062G>A	NP_001007469.1:p.Lys354=
NM_001317946.1:c.1116G>A	NP_001304875.1:p.Lys372=
NM_001362877.1:c.1143G>A	NP_001349806.1:p.Lys381=
NM_003073.4:c.1089G>A	NP_003064.2:p.Lys363=
NM_001007468.3:c.1062G>A	NP_001007469.1:p.Lys354=
NM_001317946.2:c.1116G>A	NP_001304875.1:p.Lys372=
NM_001362877.2:c.1143G>A	NP_001349806.1:p.Lys381=
NM_003073.5:c.1089G>A MANE Select	NP_003064.2:p.Lys363=