Canonical Allele Identifier: CA410935403

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24145484T>G (hg19) ; chr22:g.23803297T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803297T>G , CM000684.2:g.23803297T>G	GRCh38
NC_000022.10:g.24145484T>G , CM000684.1:g.24145484T>G	GRCh37
NC_000022.9:g.22475484T>G	NCBI36
NG_009303.1:g.21335T>G , LRG_520:g.21335T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.365T>G	ENSP00000263121.8:p.Phe122Cys
ENST00000344921.11:c.530T>G	ENSP00000340883.6:p.Phe177Cys
ENST00000407082.4:c.338T>G	ENSP00000385226.4:p.Phe113Cys
ENST00000407422.8:c.476T>G	ENSP00000383984.3:p.Phe159Cys
ENST00000417137.6:c.557T>G	ENSP00000388489.2:p.Phe186Cys
ENST00000642275.1:n.751T>G
ENST00000642727.1:c.669T>G	ENSP00000495144.1:n.669T>G
ENST00000643421.1:n.471T>G
ENST00000644036.2:c.503T>G MANE Select	ENSP00000494049.2:p.Phe168Cys
ENST00000644462.1:c.1221T>G	ENSP00000494283.1:n.1221T>G
ENST00000644467.1:n.1297T>G
ENST00000644619.1:c.*570T>G	ENSP00000494695.1:n.*570T>G
ENST00000646723.1:n.2704T>G
ENST00000646911.1:n.415T>G
ENST00000647057.1:c.234T>G	ENSP00000494757.1:p.Leu78=
ENST00000263121.11:c.503T>G	ENSP00000263121.7:p.Phe168Cys
ENST00000344921.10:c.530T>G	ENSP00000340883.6:p.Phe177Cys
ENST00000407082.3:c.365T>G	ENSP00000385226.3:p.Phe122Cys
ENST00000407422.7:c.476T>G	ENSP00000383984.3:p.Phe159Cys
ENST00000417137.5:c.557T>G	ENSP00000388489.1:p.Phe186Cys
ENST00000634926.1:c.244T>G
ENST00000635578.1:c.217T>G
NM_001007468.1:c.476T>G	NP_001007469.1:p.Phe159Cys
NM_003073.3:c.503T>G , LRG_520t1:c.503T>G	NP_003064.2:p.Phe168Cys
XM_011530345.1:c.557T>G	XP_011528647.1:p.Phe186Cys
XM_011530346.1:c.530T>G	XP_011528648.1:p.Phe177Cys
NM_001007468.2:c.476T>G	NP_001007469.1:p.Phe159Cys
NM_001317946.1:c.530T>G	NP_001304875.1:p.Phe177Cys
NM_001362877.1:c.557T>G	NP_001349806.1:p.Phe186Cys
NM_003073.4:c.503T>G	NP_003064.2:p.Phe168Cys
NM_001007468.3:c.476T>G	NP_001007469.1:p.Phe159Cys
NM_001317946.2:c.530T>G	NP_001304875.1:p.Phe177Cys
NM_001362877.2:c.557T>G	NP_001349806.1:p.Phe186Cys
NM_003073.5:c.503T>G MANE Select	NP_003064.2:p.Phe168Cys