Canonical Allele Identifier: CA322568020

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23816931A>G , CM000684.2:g.23816931A>G	GRCh38
NC_000022.10:g.24159118A>G , CM000684.1:g.24159118A>G	GRCh37
NC_000022.9:g.22489118A>G	NCBI36
NG_009303.1:g.34969A>G , LRG_520:g.34969A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003073.5:c.790A>G MANE Select	NP_003064.2:p.Ile264Val
ENST00000644036.2:c.790A>G MANE Select	ENSP00000494049.2:p.Ile264Val
NM_001007468.1:c.763A>G	NP_001007469.1:p.Ile255Val
NM_001007468.2:c.763A>G	NP_001007469.1:p.Ile255Val
NM_001007468.3:c.763A>G	NP_001007469.1:p.Ile255Val
NM_001317946.1:c.817A>G	NP_001304875.1:p.Ile273Val
NM_001317946.2:c.817A>G	NP_001304875.1:p.Ile273Val
NM_001362877.1:c.844A>G	NP_001349806.1:p.Ile282Val
NM_001362877.2:c.844A>G	NP_001349806.1:p.Ile282Val
NM_003073.3:c.790A>G , LRG_520t1:c.790A>G	NP_003064.2:p.Ile264Val
NM_003073.4:c.790A>G	NP_003064.2:p.Ile264Val
ENST00000263121.11:c.790A>G	ENSP00000263121.7:p.Ile264Val
ENST00000263121.12:c.652A>G	ENSP00000263121.8:p.Ile218Val
ENST00000344921.10:c.817A>G	ENSP00000340883.6:p.Ile273Val
ENST00000344921.11:c.817A>G	ENSP00000340883.6:p.Ile273Val
ENST00000407082.3:c.652A>G	ENSP00000385226.3:p.Ile218Val
ENST00000407422.7:c.763A>G	ENSP00000383984.3:p.Ile255Val
ENST00000407422.8:c.763A>G	ENSP00000383984.3:p.Ile255Val
ENST00000477836.1:n.563A>G
ENST00000477836.2:n.1941A>G
ENST00000642275.1:n.1038A>G
ENST00000644462.1:c.1508A>G	ENSP00000494283.1:n.1508A>G
ENST00000644467.1:n.1584A>G
ENST00000646723.1:n.3136A>G
ENST00000646911.1:n.702A>G
ENST00000647057.1:c.*284A>G	ENSP00000494757.1:n.*284A>G
XM_011530345.1:c.844A>G	XP_011528647.1:p.Ile282Val
XM_011530346.1:c.817A>G	XP_011528648.1:p.Ile273Val