Canonical Allele Identifier: CA410933881

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2145964158
• gnomAD v4: 22-23793638-T-G
• MyVariant Identifiers: chr22:g.24135825T>G (hg19) ; chr22:g.23793638T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793638T>G , CM000684.2:g.23793638T>G	GRCh38
NC_000022.10:g.24135825T>G , CM000684.1:g.24135825T>G	GRCh37
NC_000022.9:g.22465825T>G	NCBI36
NG_009303.1:g.11676T>G , LRG_520:g.11676T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.312T>G	ENSP00000263121.8:p.Asp104Glu
ENST00000344921.11:c.285T>G	ENSP00000340883.6:p.Asp95Glu
ENST00000407082.4:c.285T>G	ENSP00000385226.4:p.Asp95Glu
ENST00000407422.8:c.285T>G	ENSP00000383984.3:p.Asp95Glu
ENST00000417137.6:c.312T>G	ENSP00000388489.2:p.Asp104Glu
ENST00000491967.2:n.475T>G
ENST00000643421.1:n.280T>G
ENST00000644036.2:c.312T>G MANE Select	ENSP00000494049.2:p.Asp104Glu
ENST00000644462.1:c.147T>G	ENSP00000494283.1:p.Asp49Glu
ENST00000644619.1:c.312T>G	ENSP00000494695.1:p.Asp104Glu
ENST00000646421.1:n.2168T>G
ENST00000646723.1:n.300T>G
ENST00000646911.1:n.224T>G
ENST00000647057.1:c.93+6376T>G	ENSP00000494757.1:n.93+6376T>G
ENST00000263121.11:c.312T>G	ENSP00000263121.7:p.Asp104Glu
ENST00000344921.10:c.285T>G	ENSP00000340883.6:p.Asp95Glu
ENST00000407082.3:c.312T>G	ENSP00000385226.3:p.Asp104Glu
ENST00000407422.7:c.285T>G	ENSP00000383984.3:p.Asp95Glu
ENST00000417137.5:c.312T>G	ENSP00000388489.1:p.Asp104Glu
ENST00000491967.1:n.38T>G
ENST00000634926.1:c.164T>G
ENST00000635578.1:c.137T>G
NM_001007468.1:c.285T>G	NP_001007469.1:p.Asp95Glu
NM_003073.3:c.312T>G , LRG_520t1:c.312T>G	NP_003064.2:p.Asp104Glu
XM_011530345.1:c.312T>G	XP_011528647.1:p.Asp104Glu
XM_011530346.1:c.285T>G	XP_011528648.1:p.Asp95Glu
NM_001007468.2:c.285T>G	NP_001007469.1:p.Asp95Glu
NM_001317946.1:c.285T>G	NP_001304875.1:p.Asp95Glu
NM_001362877.1:c.312T>G	NP_001349806.1:p.Asp104Glu
NM_003073.4:c.312T>G	NP_003064.2:p.Asp104Glu
NM_001007468.3:c.285T>G	NP_001007469.1:p.Asp95Glu
NM_001317946.2:c.285T>G	NP_001304875.1:p.Asp95Glu
NM_001362877.2:c.312T>G	NP_001349806.1:p.Asp104Glu
NM_003073.5:c.312T>G MANE Select	NP_003064.2:p.Asp104Glu