Canonical Allele Identifier: CA2655713832
Gene: SMARCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834183A>G , CM000684.2:g.23834183A>G GRCh38
NC_000022.10:g.24176370A>G , CM000684.1:g.24176370A>G GRCh37
NC_000022.9:g.22506370A>G NCBI36
NG_009303.1:g.52221A>G , LRG_520:g.52221A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.*3A>G ENSP00000263121.8:n.*3A>G
ENST00000344921.11:c.*3A>G ENSP00000340883.6:n.*3A>G
ENST00000407422.8:c.*3A>G ENSP00000383984.3:n.*3A>G
ENST00000644036.2:c.*3A>G MANE Select ENSP00000494049.2:n.*3A>G
ENST00000644462.1:c.1879A>G ENSP00000494283.1:n.1879A>G
ENST00000645799.1:n.2483A>G
ENST00000646723.1:n.3507A>G
ENST00000647057.1:c.*655A>G ENSP00000494757.1:n.*655A>G
ENST00000263121.11:c.*3A>G ENSP00000263121.7:n.*3A>G
ENST00000344921.10:c.*3A>G ENSP00000340883.6:n.*3A>G
ENST00000407082.3:c.*3A>G ENSP00000385226.3:n.*3A>G
ENST00000407422.7:c.*3A>G ENSP00000383984.3:n.*3A>G
NM_001007468.1:c.*3A>G NP_001007469.1:n.*3A>G
NM_003073.3:c.*3A>G , LRG_520t1:c.*3A>G NP_003064.2:n.*3A>G
XM_011530345.1:c.*3A>G XP_011528647.1:n.*3A>G
XM_011530346.1:c.*3A>G XP_011528648.1:n.*3A>G
NM_001007468.2:c.*3A>G NP_001007469.1:n.*3A>G
NM_001317946.1:c.*3A>G NP_001304875.1:n.*3A>G
NM_001362877.1:c.*3A>G NP_001349806.1:n.*3A>G
NM_003073.4:c.*3A>G NP_003064.2:n.*3A>G
NM_001007468.3:c.*3A>G NP_001007469.1:n.*3A>G
NM_001317946.2:c.*3A>G NP_001304875.1:n.*3A>G
NM_001362877.2:c.*3A>G NP_001349806.1:n.*3A>G
NM_003073.5:c.*3A>G MANE Select NP_003064.2:n.*3A>G