Canonical Allele Identifier: CA410913511

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2146042439
• MyVariant Identifiers: chr22:g.24175839T>A (hg19) ; chr22:g.23833652T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833652T>A , CM000684.2:g.23833652T>A	GRCh38
NC_000022.10:g.24175839T>A , CM000684.1:g.24175839T>A	GRCh37
NC_000022.9:g.22505839T>A	NCBI36
NG_009303.1:g.51690T>A , LRG_520:g.51690T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.929T>A	ENSP00000263121.8:p.Leu310Gln
ENST00000344921.11:c.1094T>A	ENSP00000340883.6:p.Leu365Gln
ENST00000407422.8:c.1040T>A	ENSP00000383984.3:p.Leu347Gln
ENST00000644036.2:c.1067T>A MANE Select	ENSP00000494049.2:p.Leu356Gln
ENST00000644462.1:c.1785T>A	ENSP00000494283.1:n.1785T>A
ENST00000645799.1:n.2389T>A
ENST00000646723.1:n.3413T>A
ENST00000647057.1:c.*561T>A	ENSP00000494757.1:n.*561T>A
ENST00000263121.11:c.1067T>A	ENSP00000263121.7:p.Leu356Gln
ENST00000344921.10:c.1094T>A	ENSP00000340883.6:p.Leu365Gln
ENST00000407082.3:c.929T>A	ENSP00000385226.3:p.Leu310Gln
ENST00000407422.7:c.1040T>A	ENSP00000383984.3:p.Leu347Gln
NM_001007468.1:c.1040T>A	NP_001007469.1:p.Leu347Gln
NM_003073.3:c.1067T>A , LRG_520t1:c.1067T>A	NP_003064.2:p.Leu356Gln
XM_011530345.1:c.1121T>A	XP_011528647.1:p.Leu374Gln
XM_011530346.1:c.1094T>A	XP_011528648.1:p.Leu365Gln
NM_001007468.2:c.1040T>A	NP_001007469.1:p.Leu347Gln
NM_001317946.1:c.1094T>A	NP_001304875.1:p.Leu365Gln
NM_001362877.1:c.1121T>A	NP_001349806.1:p.Leu374Gln
NM_003073.4:c.1067T>A	NP_003064.2:p.Leu356Gln
NM_001007468.3:c.1040T>A	NP_001007469.1:p.Leu347Gln
NM_001317946.2:c.1094T>A	NP_001304875.1:p.Leu365Gln
NM_001362877.2:c.1121T>A	NP_001349806.1:p.Leu374Gln
NM_003073.5:c.1067T>A MANE Select	NP_003064.2:p.Leu356Gln