Canonical Allele Identifier: CA1024503292

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1220204956
• gnomAD v3: 22-23834385-T-A
• gnomAD v4: 22-23834385-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834385T>A , CM000684.2:g.23834385T>A	GRCh38
NC_000022.10:g.24176572T>A , CM000684.1:g.24176572T>A	GRCh37
NC_000022.9:g.22506572T>A	NCBI36
NG_009303.1:g.52423T>A , LRG_520:g.52423T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*205T>A	ENSP00000263121.8:n.*205T>A
ENST00000344921.11:c.*205T>A	ENSP00000340883.6:n.*205T>A
ENST00000407422.8:c.*205T>A	ENSP00000383984.3:n.*205T>A
ENST00000644036.2:c.*205T>A MANE Select	ENSP00000494049.2:n.*205T>A
ENST00000647057.1:c.*857T>A	ENSP00000494757.1:n.*857T>A
ENST00000263121.11:c.*205T>A	ENSP00000263121.7:n.*205T>A
ENST00000344921.10:c.*205T>A	ENSP00000340883.6:n.*205T>A
ENST00000407422.7:c.*205T>A	ENSP00000383984.3:n.*205T>A
NM_001007468.1:c.*205T>A	NP_001007469.1:n.*205T>A
NM_003073.3:c.*205T>A , LRG_520t1:c.*205T>A	NP_003064.2:n.*205T>A
XM_011530345.1:c.*205T>A	XP_011528647.1:n.*205T>A
XM_011530346.1:c.*205T>A	XP_011528648.1:n.*205T>A
NM_001007468.2:c.*205T>A	NP_001007469.1:n.*205T>A
NM_001317946.1:c.*205T>A	NP_001304875.1:n.*205T>A
NM_001362877.1:c.*205T>A	NP_001349806.1:n.*205T>A
NM_003073.4:c.*205T>A	NP_003064.2:n.*205T>A
NM_001007468.3:c.*205T>A	NP_001007469.1:n.*205T>A
NM_001317946.2:c.*205T>A	NP_001304875.1:n.*205T>A
NM_001362877.2:c.*205T>A	NP_001349806.1:n.*205T>A
NM_003073.5:c.*205T>A MANE Select	NP_003064.2:n.*205T>A