Canonical Allele Identifier: CA410912914

Gene: SMARCB1

Linked Data

• dbSNP Id: rs542096454
• MyVariant Identifiers: chr22:g.24175769C>G (hg19) ; chr22:g.23833582C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833582C>G , CM000684.2:g.23833582C>G	GRCh38
NC_000022.10:g.24175769C>G , CM000684.1:g.24175769C>G	GRCh37
NC_000022.9:g.22505769C>G	NCBI36
NG_009303.1:g.51620C>G , LRG_520:g.51620C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.859C>G	ENSP00000263121.8:p.Leu287Val
ENST00000344921.11:c.1024C>G	ENSP00000340883.6:p.Leu342Val
ENST00000407422.8:c.970C>G	ENSP00000383984.3:p.Leu324Val
ENST00000477836.2:n.2148C>G
ENST00000644036.2:c.997C>G MANE Select	ENSP00000494049.2:p.Leu333Val
ENST00000644462.1:c.1715C>G	ENSP00000494283.1:n.1715C>G
ENST00000645799.1:n.2319C>G
ENST00000646723.1:n.3343C>G
ENST00000647057.1:c.*491C>G	ENSP00000494757.1:n.*491C>G
ENST00000263121.11:c.997C>G	ENSP00000263121.7:p.Leu333Val
ENST00000344921.10:c.1024C>G	ENSP00000340883.6:p.Leu342Val
ENST00000407082.3:c.859C>G	ENSP00000385226.3:p.Leu287Val
ENST00000407422.7:c.970C>G	ENSP00000383984.3:p.Leu324Val
NM_001007468.1:c.970C>G	NP_001007469.1:p.Leu324Val
NM_003073.3:c.997C>G , LRG_520t1:c.997C>G	NP_003064.2:p.Leu333Val
XM_011530345.1:c.1051C>G	XP_011528647.1:p.Leu351Val
XM_011530346.1:c.1024C>G	XP_011528648.1:p.Leu342Val
NM_001007468.2:c.970C>G	NP_001007469.1:p.Leu324Val
NM_001317946.1:c.1024C>G	NP_001304875.1:p.Leu342Val
NM_001362877.1:c.1051C>G	NP_001349806.1:p.Leu351Val
NM_003073.4:c.997C>G	NP_003064.2:p.Leu333Val
NM_001007468.3:c.970C>G	NP_001007469.1:p.Leu324Val
NM_001317946.2:c.1024C>G	NP_001304875.1:p.Leu342Val
NM_001362877.2:c.1051C>G	NP_001349806.1:p.Leu351Val
NM_003073.5:c.997C>G MANE Select	NP_003064.2:p.Leu333Val