Canonical Allele Identifier: CA1024503045

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1296542045
• gnomAD v3: 22-23834365-G-T
• gnomAD v4: 22-23834365-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834365G>T , CM000684.2:g.23834365G>T	GRCh38
NC_000022.10:g.24176552G>T , CM000684.1:g.24176552G>T	GRCh37
NC_000022.9:g.22506552G>T	NCBI36
NG_009303.1:g.52403G>T , LRG_520:g.52403G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*185G>T	ENSP00000263121.8:n.*185G>T
ENST00000344921.11:c.*185G>T	ENSP00000340883.6:n.*185G>T
ENST00000407422.8:c.*185G>T	ENSP00000383984.3:n.*185G>T
ENST00000644036.2:c.*185G>T MANE Select	ENSP00000494049.2:n.*185G>T
ENST00000647057.1:c.*837G>T	ENSP00000494757.1:n.*837G>T
ENST00000263121.11:c.*185G>T	ENSP00000263121.7:n.*185G>T
ENST00000344921.10:c.*185G>T	ENSP00000340883.6:n.*185G>T
ENST00000407422.7:c.*185G>T	ENSP00000383984.3:n.*185G>T
NM_001007468.1:c.*185G>T	NP_001007469.1:n.*185G>T
NM_003073.3:c.*185G>T , LRG_520t1:c.*185G>T	NP_003064.2:n.*185G>T
XM_011530345.1:c.*185G>T	XP_011528647.1:n.*185G>T
XM_011530346.1:c.*185G>T	XP_011528648.1:n.*185G>T
NM_001007468.2:c.*185G>T	NP_001007469.1:n.*185G>T
NM_001317946.1:c.*185G>T	NP_001304875.1:n.*185G>T
NM_001362877.1:c.*185G>T	NP_001349806.1:n.*185G>T
NM_003073.4:c.*185G>T	NP_003064.2:n.*185G>T
NM_001007468.3:c.*185G>T	NP_001007469.1:n.*185G>T
NM_001317946.2:c.*185G>T	NP_001304875.1:n.*185G>T
NM_001362877.2:c.*185G>T	NP_001349806.1:n.*185G>T
NM_003073.5:c.*185G>T MANE Select	NP_003064.2:n.*185G>T