Canonical Allele Identifier: CA10146142

Gene: SMARCB1

Linked Data

• dbSNP Id: rs749765106
• ExAC: 22:24176417 G / A
• gnomAD v2: 22-24176417-G-A
• gnomAD v3: 22-23834230-G-A
• gnomAD v4: 22-23834230-G-A
• MyVariant Identifiers: chr22:g.24176417G>A (hg19) ; chr22:g.23834230G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834230G>A , CM000684.2:g.23834230G>A	GRCh38
NC_000022.10:g.24176417G>A , CM000684.1:g.24176417G>A	GRCh37
NC_000022.9:g.22506417G>A	NCBI36
NG_009303.1:g.52268G>A , LRG_520:g.52268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*50G>A	ENSP00000263121.8:n.*50G>A
ENST00000344921.11:c.*50G>A	ENSP00000340883.6:n.*50G>A
ENST00000407422.8:c.*50G>A	ENSP00000383984.3:n.*50G>A
ENST00000644036.2:c.*50G>A MANE Select	ENSP00000494049.2:n.*50G>A
ENST00000644462.1:c.1926G>A	ENSP00000494283.1:n.1926G>A
ENST00000645799.1:n.2530G>A
ENST00000646723.1:n.3554G>A
ENST00000647057.1:c.*702G>A	ENSP00000494757.1:n.*702G>A
ENST00000263121.11:c.*50G>A	ENSP00000263121.7:n.*50G>A
ENST00000344921.10:c.*50G>A	ENSP00000340883.6:n.*50G>A
ENST00000407422.7:c.*50G>A	ENSP00000383984.3:n.*50G>A
NM_001007468.1:c.*50G>A	NP_001007469.1:n.*50G>A
NM_003073.3:c.*50G>A , LRG_520t1:c.*50G>A	NP_003064.2:n.*50G>A
XM_011530345.1:c.*50G>A	XP_011528647.1:n.*50G>A
XM_011530346.1:c.*50G>A	XP_011528648.1:n.*50G>A
NM_001007468.2:c.*50G>A	NP_001007469.1:n.*50G>A
NM_001317946.1:c.*50G>A	NP_001304875.1:n.*50G>A
NM_001362877.1:c.*50G>A	NP_001349806.1:n.*50G>A
NM_003073.4:c.*50G>A	NP_003064.2:n.*50G>A
NM_001007468.3:c.*50G>A	NP_001007469.1:n.*50G>A
NM_001317946.2:c.*50G>A	NP_001304875.1:n.*50G>A
NM_001362877.2:c.*50G>A	NP_001349806.1:n.*50G>A
NM_003073.5:c.*50G>A MANE Select	NP_003064.2:n.*50G>A