Canonical Allele Identifier: CA2397981098
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23834157G= , CM000684.2:g.23834157G= GRCh38
NC_000022.10:g.24176344G= , CM000684.1:g.24176344G= GRCh37
NC_000022.9:g.22506344G= NCBI36
NG_009303.1:g.52195G= , LRG_520:g.52195G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.997G= ENSP00000263121.8:p.Ala333=
ENST00000344921.11:c.1162G= ENSP00000340883.6:p.Ala388=
ENST00000407422.8:c.1108G= ENSP00000383984.3:p.Ala370=
ENST00000644036.2:c.1135G= MANE Select ENSP00000494049.2:p.Ala379=
ENST00000644462.1:c.1853G= ENSP00000494283.1:n.1853G=
ENST00000645799.1:n.2457G=
ENST00000646723.1:n.3481G=
ENST00000647057.1:c.*629G= ENSP00000494757.1:n.*629G=
ENST00000263121.11:c.1135G= ENSP00000263121.7:p.Ala379=
ENST00000344921.10:c.1162G= ENSP00000340883.6:p.Ala388=
ENST00000407082.3:c.997G= ENSP00000385226.3:p.Ala333=
ENST00000407422.7:c.1108G= ENSP00000383984.3:p.Ala370=
NM_001007468.1:c.1108G= NP_001007469.1:p.Ala370=
NM_003073.3:c.1135G= , LRG_520t1:c.1135G= NP_003064.2:p.Ala379=
XM_011530345.1:c.1189G= XP_011528647.1:p.Ala397=
XM_011530346.1:c.1162G= XP_011528648.1:p.Ala388=
NM_001007468.2:c.1108G= NP_001007469.1:p.Ala370=
NM_001317946.1:c.1162G= NP_001304875.1:p.Ala388=
NM_001362877.1:c.1189G= NP_001349806.1:p.Ala397=
NM_003073.4:c.1135G= NP_003064.2:p.Ala379=
NM_001007468.3:c.1108G= NP_001007469.1:p.Ala370=
NM_001317946.2:c.1162G= NP_001304875.1:p.Ala388=
NM_001362877.2:c.1189G= NP_001349806.1:p.Ala397=
NM_003073.5:c.1135G= MANE Select NP_003064.2:p.Ala379=