Canonical Allele Identifier: CA410914090

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2146042788
• MyVariant Identifiers: chr22:g.24175884A>T (hg19) ; chr22:g.23833697A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833697A>T , CM000684.2:g.23833697A>T	GRCh38
NC_000022.10:g.24175884A>T , CM000684.1:g.24175884A>T	GRCh37
NC_000022.9:g.22505884A>T	NCBI36
NG_009303.1:g.51735A>T , LRG_520:g.51735A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.974A>T	ENSP00000263121.8:p.Asn325Ile
ENST00000344921.11:c.1139A>T	ENSP00000340883.6:p.Asn380Ile
ENST00000407422.8:c.1085A>T	ENSP00000383984.3:p.Asn362Ile
ENST00000644036.2:c.1112A>T MANE Select	ENSP00000494049.2:p.Asn371Ile
ENST00000644462.1:c.1830A>T	ENSP00000494283.1:n.1830A>T
ENST00000645799.1:n.2434A>T
ENST00000646723.1:n.3458A>T
ENST00000647057.1:c.*606A>T	ENSP00000494757.1:n.*606A>T
ENST00000263121.11:c.1112A>T	ENSP00000263121.7:p.Asn371Ile
ENST00000344921.10:c.1139A>T	ENSP00000340883.6:p.Asn380Ile
ENST00000407082.3:c.974A>T	ENSP00000385226.3:p.Asn325Ile
ENST00000407422.7:c.1085A>T	ENSP00000383984.3:p.Asn362Ile
NM_001007468.1:c.1085A>T	NP_001007469.1:p.Asn362Ile
NM_003073.3:c.1112A>T , LRG_520t1:c.1112A>T	NP_003064.2:p.Asn371Ile
XM_011530345.1:c.1166A>T	XP_011528647.1:p.Asn389Ile
XM_011530346.1:c.1139A>T	XP_011528648.1:p.Asn380Ile
NM_001007468.2:c.1085A>T	NP_001007469.1:p.Asn362Ile
NM_001317946.1:c.1139A>T	NP_001304875.1:p.Asn380Ile
NM_001362877.1:c.1166A>T	NP_001349806.1:p.Asn389Ile
NM_003073.4:c.1112A>T	NP_003064.2:p.Asn371Ile
NM_001007468.3:c.1085A>T	NP_001007469.1:p.Asn362Ile
NM_001317946.2:c.1139A>T	NP_001304875.1:p.Asn380Ile
NM_001362877.2:c.1166A>T	NP_001349806.1:p.Asn389Ile
NM_003073.5:c.1112A>T MANE Select	NP_003064.2:p.Asn371Ile