Canonical Allele Identifier: CA2397961348
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23793635C= , CM000684.2:g.23793635C= GRCh38
NC_000022.10:g.24135822C= , CM000684.1:g.24135822C= GRCh37
NC_000022.9:g.22465822C= NCBI36
NG_009303.1:g.11673C= , LRG_520:g.11673C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.309C= ENSP00000263121.8:p.Asn103=
ENST00000344921.11:c.282C= ENSP00000340883.6:p.Asn94=
ENST00000407082.4:c.282C= ENSP00000385226.4:p.Asn94=
ENST00000407422.8:c.282C= ENSP00000383984.3:p.Asn94=
ENST00000417137.6:c.309C= ENSP00000388489.2:p.Asn103=
ENST00000491967.2:n.472C=
ENST00000643421.1:n.277C=
ENST00000644036.2:c.309C= MANE Select ENSP00000494049.2:p.Asn103=
ENST00000644462.1:c.144C= ENSP00000494283.1:p.Asn48=
ENST00000644619.1:c.309C= ENSP00000494695.1:p.Asn103=
ENST00000646421.1:n.2165C=
ENST00000646723.1:n.297C=
ENST00000646911.1:n.221C=
ENST00000647057.1:c.93+6373C= ENSP00000494757.1:n.93+6373C=
ENST00000263121.11:c.309C= ENSP00000263121.7:p.Asn103=
ENST00000344921.10:c.282C= ENSP00000340883.6:p.Asn94=
ENST00000407082.3:c.309C= ENSP00000385226.3:p.Asn103=
ENST00000407422.7:c.282C= ENSP00000383984.3:p.Asn94=
ENST00000417137.5:c.309C= ENSP00000388489.1:p.Asn103=
ENST00000491967.1:n.35C=
ENST00000634926.1:c.161C=
ENST00000635578.1:c.134C=
NM_001007468.1:c.282C= NP_001007469.1:p.Asn94=
NM_003073.3:c.309C= , LRG_520t1:c.309C= NP_003064.2:p.Asn103=
XM_011530345.1:c.309C= XP_011528647.1:p.Asn103=
XM_011530346.1:c.282C= XP_011528648.1:p.Asn94=
NM_001007468.2:c.282C= NP_001007469.1:p.Asn94=
NM_001317946.1:c.282C= NP_001304875.1:p.Asn94=
NM_001362877.1:c.309C= NP_001349806.1:p.Asn103=
NM_003073.4:c.309C= NP_003064.2:p.Asn103=
NM_001007468.3:c.282C= NP_001007469.1:p.Asn94=
NM_001317946.2:c.282C= NP_001304875.1:p.Asn94=
NM_001362877.2:c.309C= NP_001349806.1:p.Asn103=
NM_003073.5:c.309C= MANE Select NP_003064.2:p.Asn103=