Canonical Allele Identifier: CA2397981103
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834169C= , CM000684.2:g.23834169C= GRCh38
NC_000022.10:g.24176356C= , CM000684.1:g.24176356C= GRCh37
NC_000022.9:g.22506356C= NCBI36
NG_009303.1:g.52207C= , LRG_520:g.52207C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.1009C= ENSP00000263121.8:p.Pro337=
ENST00000344921.11:c.1174C= ENSP00000340883.6:p.Pro392=
ENST00000407422.8:c.1120C= ENSP00000383984.3:p.Pro374=
ENST00000644036.2:c.1147C= MANE Select ENSP00000494049.2:p.Pro383=
ENST00000644462.1:c.1865C= ENSP00000494283.1:n.1865C=
ENST00000645799.1:n.2469C=
ENST00000646723.1:n.3493C=
ENST00000647057.1:c.*641C= ENSP00000494757.1:n.*641C=
ENST00000263121.11:c.1147C= ENSP00000263121.7:p.Pro383=
ENST00000344921.10:c.1174C= ENSP00000340883.6:p.Pro392=
ENST00000407082.3:c.1009C= ENSP00000385226.3:p.Pro337=
ENST00000407422.7:c.1120C= ENSP00000383984.3:p.Pro374=
NM_001007468.1:c.1120C= NP_001007469.1:p.Pro374=
NM_003073.3:c.1147C= , LRG_520t1:c.1147C= NP_003064.2:p.Pro383=
XM_011530345.1:c.1201C= XP_011528647.1:p.Pro401=
XM_011530346.1:c.1174C= XP_011528648.1:p.Pro392=
NM_001007468.2:c.1120C= NP_001007469.1:p.Pro374=
NM_001317946.1:c.1174C= NP_001304875.1:p.Pro392=
NM_001362877.1:c.1201C= NP_001349806.1:p.Pro401=
NM_003073.4:c.1147C= NP_003064.2:p.Pro383=
NM_001007468.3:c.1120C= NP_001007469.1:p.Pro374=
NM_001317946.2:c.1174C= NP_001304875.1:p.Pro392=
NM_001362877.2:c.1201C= NP_001349806.1:p.Pro401=
NM_003073.5:c.1147C= MANE Select NP_003064.2:p.Pro383=