Canonical Allele Identifier: CA2738000750

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2146045562

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834196A>C , CM000684.2:g.23834196A>C	GRCh38
NC_000022.10:g.24176383A>C , CM000684.1:g.24176383A>C	GRCh37
NC_000022.9:g.22506383A>C	NCBI36
NG_009303.1:g.52234A>C , LRG_520:g.52234A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*16A>C	ENSP00000263121.8:n.*16A>C
ENST00000344921.11:c.*16A>C	ENSP00000340883.6:n.*16A>C
ENST00000407422.8:c.*16A>C	ENSP00000383984.3:n.*16A>C
ENST00000644036.2:c.*16A>C MANE Select	ENSP00000494049.2:n.*16A>C
ENST00000644462.1:c.1892A>C	ENSP00000494283.1:n.1892A>C
ENST00000645799.1:n.2496A>C
ENST00000646723.1:n.3520A>C
ENST00000647057.1:c.*668A>C	ENSP00000494757.1:n.*668A>C
ENST00000263121.11:c.*16A>C	ENSP00000263121.7:n.*16A>C
ENST00000344921.10:c.*16A>C	ENSP00000340883.6:n.*16A>C
ENST00000407422.7:c.*16A>C	ENSP00000383984.3:n.*16A>C
NM_001007468.1:c.*16A>C	NP_001007469.1:n.*16A>C
NM_003073.3:c.*16A>C , LRG_520t1:c.*16A>C	NP_003064.2:n.*16A>C
XM_011530345.1:c.*16A>C	XP_011528647.1:n.*16A>C
XM_011530346.1:c.*16A>C	XP_011528648.1:n.*16A>C
NM_001007468.2:c.*16A>C	NP_001007469.1:n.*16A>C
NM_001317946.1:c.*16A>C	NP_001304875.1:n.*16A>C
NM_001362877.1:c.*16A>C	NP_001349806.1:n.*16A>C
NM_003073.4:c.*16A>C	NP_003064.2:n.*16A>C
NM_001007468.3:c.*16A>C	NP_001007469.1:n.*16A>C
NM_001317946.2:c.*16A>C	NP_001304875.1:n.*16A>C
NM_001362877.2:c.*16A>C	NP_001349806.1:n.*16A>C
NM_003073.5:c.*16A>C MANE Select	NP_003064.2:n.*16A>C