Canonical Allele Identifier: CA2397981283
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834430T= , CM000684.2:g.23834430T= GRCh38
NC_000022.10:g.24176617T= , CM000684.1:g.24176617T= GRCh37
NC_000022.9:g.22506617T= NCBI36
NG_009303.1:g.52468T= , LRG_520:g.52468T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.*250T= ENSP00000263121.8:n.*250T=
ENST00000344921.11:c.*250T= ENSP00000340883.6:n.*250T=
ENST00000407422.8:c.*250T= ENSP00000383984.3:n.*250T=
ENST00000644036.2:c.*250T= MANE Select ENSP00000494049.2:n.*250T=
ENST00000647057.1:c.*902T= ENSP00000494757.1:n.*902T=
ENST00000263121.11:c.*250T= ENSP00000263121.7:n.*250T=
ENST00000344921.10:c.*250T= ENSP00000340883.6:n.*250T=
ENST00000407422.7:c.*250T= ENSP00000383984.3:n.*250T=
NM_001007468.1:c.*250T= NP_001007469.1:n.*250T=
NM_003073.3:c.*250T= , LRG_520t1:c.*250T= NP_003064.2:n.*250T=
XM_011530345.1:c.*250T= XP_011528647.1:n.*250T=
XM_011530346.1:c.*250T= XP_011528648.1:n.*250T=
NM_001007468.2:c.*250T= NP_001007469.1:n.*250T=
NM_001317946.1:c.*250T= NP_001304875.1:n.*250T=
NM_001362877.1:c.*250T= NP_001349806.1:n.*250T=
NM_003073.4:c.*250T= NP_003064.2:n.*250T=
NM_001007468.3:c.*250T= NP_001007469.1:n.*250T=
NM_001317946.2:c.*250T= NP_001304875.1:n.*250T=
NM_001362877.2:c.*250T= NP_001349806.1:n.*250T=
NM_003073.5:c.*250T= MANE Select NP_003064.2:n.*250T=