Canonical Allele Identifier: CA410913701

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 2631196
• ClinVar RCV Id: RCV004550693
• MyVariant Identifiers: chr22:g.24175856G>A (hg19) ; chr22:g.23833669G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833669G>A , CM000684.2:g.23833669G>A	GRCh38
NC_000022.10:g.24175856G>A , CM000684.1:g.24175856G>A	GRCh37
NC_000022.9:g.22505856G>A	NCBI36
NG_009303.1:g.51707G>A , LRG_520:g.51707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.946G>A	ENSP00000263121.8:p.Glu316Lys
ENST00000344921.11:c.1111G>A	ENSP00000340883.6:p.Glu371Lys
ENST00000407422.8:c.1057G>A	ENSP00000383984.3:p.Glu353Lys
ENST00000644036.2:c.1084G>A MANE Select	ENSP00000494049.2:p.Glu362Lys
ENST00000644462.1:c.1802G>A	ENSP00000494283.1:n.1802G>A
ENST00000645799.1:n.2406G>A
ENST00000646723.1:n.3430G>A
ENST00000647057.1:c.*578G>A	ENSP00000494757.1:n.*578G>A
ENST00000263121.11:c.1084G>A	ENSP00000263121.7:p.Glu362Lys
ENST00000344921.10:c.1111G>A	ENSP00000340883.6:p.Glu371Lys
ENST00000407082.3:c.946G>A	ENSP00000385226.3:p.Glu316Lys
ENST00000407422.7:c.1057G>A	ENSP00000383984.3:p.Glu353Lys
NM_001007468.1:c.1057G>A	NP_001007469.1:p.Glu353Lys
NM_003073.3:c.1084G>A , LRG_520t1:c.1084G>A	NP_003064.2:p.Glu362Lys
XM_011530345.1:c.1138G>A	XP_011528647.1:p.Glu380Lys
XM_011530346.1:c.1111G>A	XP_011528648.1:p.Glu371Lys
NM_001007468.2:c.1057G>A	NP_001007469.1:p.Glu353Lys
NM_001317946.1:c.1111G>A	NP_001304875.1:p.Glu371Lys
NM_001362877.1:c.1138G>A	NP_001349806.1:p.Glu380Lys
NM_003073.4:c.1084G>A	NP_003064.2:p.Glu362Lys
NM_001007468.3:c.1057G>A	NP_001007469.1:p.Glu353Lys
NM_001317946.2:c.1111G>A	NP_001304875.1:p.Glu371Lys
NM_001362877.2:c.1138G>A	NP_001349806.1:p.Glu380Lys
NM_003073.5:c.1084G>A MANE Select	NP_003064.2:p.Glu362Lys