Canonical Allele Identifier: CA410914843

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24176365T>C (hg19) ; chr22:g.23834178T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834178T>C , CM000684.2:g.23834178T>C	GRCh38
NC_000022.10:g.24176365T>C , CM000684.1:g.24176365T>C	GRCh37
NC_000022.9:g.22506365T>C	NCBI36
NG_009303.1:g.52216T>C , LRG_520:g.52216T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.1018T>C	ENSP00000263121.8:p.Ter340Gln
ENST00000344921.11:c.1183T>C	ENSP00000340883.6:p.Ter395Gln
ENST00000407422.8:c.1129T>C	ENSP00000383984.3:p.Ter377Gln
ENST00000644036.2:c.1156T>C MANE Select	ENSP00000494049.2:p.Ter386Gln
ENST00000644462.1:c.1874T>C	ENSP00000494283.1:n.1874T>C
ENST00000645799.1:n.2478T>C
ENST00000646723.1:n.3502T>C
ENST00000647057.1:c.*650T>C	ENSP00000494757.1:n.*650T>C
ENST00000263121.11:c.1156T>C	ENSP00000263121.7:p.Ter386Gln
ENST00000344921.10:c.1183T>C	ENSP00000340883.6:p.Ter395Gln
ENST00000407082.3:c.1018T>C	ENSP00000385226.3:p.Ter340Gln
ENST00000407422.7:c.1129T>C	ENSP00000383984.3:p.Ter377Gln
NM_001007468.1:c.1129T>C	NP_001007469.1:p.Ter377Gln
NM_003073.3:c.1156T>C , LRG_520t1:c.1156T>C	NP_003064.2:p.Ter386Gln
XM_011530345.1:c.1210T>C	XP_011528647.1:p.Ter404Gln
XM_011530346.1:c.1183T>C	XP_011528648.1:p.Ter395Gln
NM_001007468.2:c.1129T>C	NP_001007469.1:p.Ter377Gln
NM_001317946.1:c.1183T>C	NP_001304875.1:p.Ter395Gln
NM_001362877.1:c.1210T>C	NP_001349806.1:p.Ter404Gln
NM_003073.4:c.1156T>C	NP_003064.2:p.Ter386Gln
NM_001007468.3:c.1129T>C	NP_001007469.1:p.Ter377Gln
NM_001317946.2:c.1183T>C	NP_001304875.1:p.Ter395Gln
NM_001362877.2:c.1210T>C	NP_001349806.1:p.Ter404Gln
NM_003073.5:c.1156T>C MANE Select	NP_003064.2:p.Ter386Gln