Canonical Allele Identifier: CA2397980805
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23833916G= , CM000684.2:g.23833916G= GRCh38
NC_000022.10:g.24176103G= , CM000684.1:g.24176103G= GRCh37
NC_000022.9:g.22506103G= NCBI36
NG_009303.1:g.51954G= , LRG_520:g.51954G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.980+213G= ENSP00000263121.8:n.980+213G=
ENST00000344921.11:c.1145+213G= ENSP00000340883.6:n.1145+213G=
ENST00000407422.8:c.1091+213G= ENSP00000383984.3:n.1091+213G=
ENST00000644036.2:c.1118+213G= MANE Select ENSP00000494049.2:n.1118+213G=
ENST00000644462.1:c.1836+213G= ENSP00000494283.1:n.1836+213G=
ENST00000645799.1:n.2440+213G=
ENST00000646723.1:n.3464+213G=
ENST00000647057.1:c.*612+213G= ENSP00000494757.1:n.*612+213G=
ENST00000263121.11:c.1118+213G= ENSP00000263121.7:n.1118+213G=
ENST00000344921.10:c.1145+213G= ENSP00000340883.6:n.1145+213G=
ENST00000407082.3:c.980+213G= ENSP00000385226.3:n.980+213G=
ENST00000407422.7:c.1091+213G= ENSP00000383984.3:n.1091+213G=
NM_001007468.1:c.1091+213G= NP_001007469.1:n.1091+213G=
NM_003073.3:c.1118+213G= , LRG_520t1:c.1118+213G= NP_003064.2:n.1118+213G=
XM_011530345.1:c.1172+213G= XP_011528647.1:n.1172+213G=
XM_011530346.1:c.1145+213G= XP_011528648.1:n.1145+213G=
NM_001007468.2:c.1091+213G= NP_001007469.1:n.1091+213G=
NM_001317946.1:c.1145+213G= NP_001304875.1:n.1145+213G=
NM_001362877.1:c.1172+213G= NP_001349806.1:n.1172+213G=
NM_003073.4:c.1118+213G= NP_003064.2:n.1118+213G=
NM_001007468.3:c.1091+213G= NP_001007469.1:n.1091+213G=
NM_001317946.2:c.1145+213G= NP_001304875.1:n.1145+213G=
NM_001362877.2:c.1172+213G= NP_001349806.1:n.1172+213G=
NM_003073.5:c.1118+213G= MANE Select NP_003064.2:n.1118+213G=