Canonical Allele Identifier: CA410935889

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24145568A>C (hg19) ; chr22:g.23803381A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803381A>C , CM000684.2:g.23803381A>C	GRCh38
NC_000022.10:g.24145568A>C , CM000684.1:g.24145568A>C	GRCh37
NC_000022.9:g.22475568A>C	NCBI36
NG_009303.1:g.21419A>C , LRG_520:g.21419A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.449A>C	ENSP00000263121.8:p.Asp150Ala
ENST00000344921.11:c.614A>C	ENSP00000340883.6:p.Asp205Ala
ENST00000407082.4:c.422A>C	ENSP00000385226.4:p.Asp141Ala
ENST00000407422.8:c.560A>C	ENSP00000383984.3:p.Asp187Ala
ENST00000417137.6:c.641A>C	ENSP00000388489.2:p.Asp214Ala
ENST00000642275.1:n.835A>C
ENST00000642727.1:c.753A>C	ENSP00000495144.1:n.753A>C
ENST00000643421.1:n.555A>C
ENST00000644036.2:c.587A>C MANE Select	ENSP00000494049.2:p.Asp196Ala
ENST00000644462.1:c.1305A>C	ENSP00000494283.1:n.1305A>C
ENST00000644467.1:n.1381A>C
ENST00000644619.1:c.*654A>C	ENSP00000494695.1:n.*654A>C
ENST00000646723.1:n.2788A>C
ENST00000646911.1:n.499A>C
ENST00000647057.1:c.*81A>C	ENSP00000494757.1:n.*81A>C
ENST00000263121.11:c.587A>C	ENSP00000263121.7:p.Asp196Ala
ENST00000344921.10:c.614A>C	ENSP00000340883.6:p.Asp205Ala
ENST00000407082.3:c.449A>C	ENSP00000385226.3:p.Asp150Ala
ENST00000407422.7:c.560A>C	ENSP00000383984.3:p.Asp187Ala
ENST00000417137.5:c.641A>C	ENSP00000388489.1:p.Asp214Ala
NM_001007468.1:c.560A>C	NP_001007469.1:p.Asp187Ala
NM_003073.3:c.587A>C , LRG_520t1:c.587A>C	NP_003064.2:p.Asp196Ala
XM_011530345.1:c.641A>C	XP_011528647.1:p.Asp214Ala
XM_011530346.1:c.614A>C	XP_011528648.1:p.Asp205Ala
NM_001007468.2:c.560A>C	NP_001007469.1:p.Asp187Ala
NM_001317946.1:c.614A>C	NP_001304875.1:p.Asp205Ala
NM_001362877.1:c.641A>C	NP_001349806.1:p.Asp214Ala
NM_003073.4:c.587A>C	NP_003064.2:p.Asp196Ala
NM_001007468.3:c.560A>C	NP_001007469.1:p.Asp187Ala
NM_001317946.2:c.614A>C	NP_001304875.1:p.Asp205Ala
NM_001362877.2:c.641A>C	NP_001349806.1:p.Asp214Ala
NM_003073.5:c.587A>C MANE Select	NP_003064.2:p.Asp196Ala