Canonical Allele Identifier: CA410913526

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2146042457
• MyVariant Identifiers: chr22:g.24175841A>T (hg19) ; chr22:g.23833654A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833654A>T , CM000684.2:g.23833654A>T	GRCh38
NC_000022.10:g.24175841A>T , CM000684.1:g.24175841A>T	GRCh37
NC_000022.9:g.22505841A>T	NCBI36
NG_009303.1:g.51692A>T , LRG_520:g.51692A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.931A>T	ENSP00000263121.8:p.Thr311Ser
ENST00000344921.11:c.1096A>T	ENSP00000340883.6:p.Thr366Ser
ENST00000407422.8:c.1042A>T	ENSP00000383984.3:p.Thr348Ser
ENST00000644036.2:c.1069A>T MANE Select	ENSP00000494049.2:p.Thr357Ser
ENST00000644462.1:c.1787A>T	ENSP00000494283.1:n.1787A>T
ENST00000645799.1:n.2391A>T
ENST00000646723.1:n.3415A>T
ENST00000647057.1:c.*563A>T	ENSP00000494757.1:n.*563A>T
ENST00000263121.11:c.1069A>T	ENSP00000263121.7:p.Thr357Ser
ENST00000344921.10:c.1096A>T	ENSP00000340883.6:p.Thr366Ser
ENST00000407082.3:c.931A>T	ENSP00000385226.3:p.Thr311Ser
ENST00000407422.7:c.1042A>T	ENSP00000383984.3:p.Thr348Ser
NM_001007468.1:c.1042A>T	NP_001007469.1:p.Thr348Ser
NM_003073.3:c.1069A>T , LRG_520t1:c.1069A>T	NP_003064.2:p.Thr357Ser
XM_011530345.1:c.1123A>T	XP_011528647.1:p.Thr375Ser
XM_011530346.1:c.1096A>T	XP_011528648.1:p.Thr366Ser
NM_001007468.2:c.1042A>T	NP_001007469.1:p.Thr348Ser
NM_001317946.1:c.1096A>T	NP_001304875.1:p.Thr366Ser
NM_001362877.1:c.1123A>T	NP_001349806.1:p.Thr375Ser
NM_003073.4:c.1069A>T	NP_003064.2:p.Thr357Ser
NM_001007468.3:c.1042A>T	NP_001007469.1:p.Thr348Ser
NM_001317946.2:c.1096A>T	NP_001304875.1:p.Thr366Ser
NM_001362877.2:c.1123A>T	NP_001349806.1:p.Thr375Ser
NM_003073.5:c.1069A>T MANE Select	NP_003064.2:p.Thr357Ser