Canonical Allele Identifier: CA410913829

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2146042660
• MyVariant Identifiers: chr22:g.24175865A>G (hg19) ; chr22:g.23833678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833678A>G , CM000684.2:g.23833678A>G	GRCh38
NC_000022.10:g.24175865A>G , CM000684.1:g.24175865A>G	GRCh37
NC_000022.9:g.22505865A>G	NCBI36
NG_009303.1:g.51716A>G , LRG_520:g.51716A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.955A>G	ENSP00000263121.8:p.Ile319Val
ENST00000344921.11:c.1120A>G	ENSP00000340883.6:p.Ile374Val
ENST00000407422.8:c.1066A>G	ENSP00000383984.3:p.Ile356Val
ENST00000644036.2:c.1093A>G MANE Select	ENSP00000494049.2:p.Ile365Val
ENST00000644462.1:c.1811A>G	ENSP00000494283.1:n.1811A>G
ENST00000645799.1:n.2415A>G
ENST00000646723.1:n.3439A>G
ENST00000647057.1:c.*587A>G	ENSP00000494757.1:n.*587A>G
ENST00000263121.11:c.1093A>G	ENSP00000263121.7:p.Ile365Val
ENST00000344921.10:c.1120A>G	ENSP00000340883.6:p.Ile374Val
ENST00000407082.3:c.955A>G	ENSP00000385226.3:p.Ile319Val
ENST00000407422.7:c.1066A>G	ENSP00000383984.3:p.Ile356Val
NM_001007468.1:c.1066A>G	NP_001007469.1:p.Ile356Val
NM_003073.3:c.1093A>G , LRG_520t1:c.1093A>G	NP_003064.2:p.Ile365Val
XM_011530345.1:c.1147A>G	XP_011528647.1:p.Ile383Val
XM_011530346.1:c.1120A>G	XP_011528648.1:p.Ile374Val
NM_001007468.2:c.1066A>G	NP_001007469.1:p.Ile356Val
NM_001317946.1:c.1120A>G	NP_001304875.1:p.Ile374Val
NM_001362877.1:c.1147A>G	NP_001349806.1:p.Ile383Val
NM_003073.4:c.1093A>G	NP_003064.2:p.Ile365Val
NM_001007468.3:c.1066A>G	NP_001007469.1:p.Ile356Val
NM_001317946.2:c.1120A>G	NP_001304875.1:p.Ile374Val
NM_001362877.2:c.1147A>G	NP_001349806.1:p.Ile383Val
NM_003073.5:c.1093A>G MANE Select	NP_003064.2:p.Ile365Val