Canonical Allele Identifier: CA2397981280
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834428G= , CM000684.2:g.23834428G= GRCh38
NC_000022.10:g.24176615G= , CM000684.1:g.24176615G= GRCh37
NC_000022.9:g.22506615G= NCBI36
NG_009303.1:g.52466G= , LRG_520:g.52466G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.*248G= ENSP00000263121.8:n.*248G=
ENST00000344921.11:c.*248G= ENSP00000340883.6:n.*248G=
ENST00000407422.8:c.*248G= ENSP00000383984.3:n.*248G=
ENST00000644036.2:c.*248G= MANE Select ENSP00000494049.2:n.*248G=
ENST00000647057.1:c.*900G= ENSP00000494757.1:n.*900G=
ENST00000263121.11:c.*248G= ENSP00000263121.7:n.*248G=
ENST00000344921.10:c.*248G= ENSP00000340883.6:n.*248G=
ENST00000407422.7:c.*248G= ENSP00000383984.3:n.*248G=
NM_001007468.1:c.*248G= NP_001007469.1:n.*248G=
NM_003073.3:c.*248G= , LRG_520t1:c.*248G= NP_003064.2:n.*248G=
XM_011530345.1:c.*248G= XP_011528647.1:n.*248G=
XM_011530346.1:c.*248G= XP_011528648.1:n.*248G=
NM_001007468.2:c.*248G= NP_001007469.1:n.*248G=
NM_001317946.1:c.*248G= NP_001304875.1:n.*248G=
NM_001362877.1:c.*248G= NP_001349806.1:n.*248G=
NM_003073.4:c.*248G= NP_003064.2:n.*248G=
NM_001007468.3:c.*248G= NP_001007469.1:n.*248G=
NM_001317946.2:c.*248G= NP_001304875.1:n.*248G=
NM_001362877.2:c.*248G= NP_001349806.1:n.*248G=
NM_003073.5:c.*248G= MANE Select NP_003064.2:n.*248G=