Canonical Allele Identifier: CA234956
Gene: SMARCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167703
ClinVar RCV Id: RCV000153973
dbSNP Id: rs727504162

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23793696G>A , CM000684.2:g.23793696G>A GRCh38
NC_000022.10:g.24135883G>A , CM000684.1:g.24135883G>A GRCh37
NC_000022.9:g.22465883G>A NCBI36
NG_009303.1:g.11734G>A , LRG_520:g.11734G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263121.12:c.362+8G>A ENSP00000263121.8:p.=
ENST00000344921.11:c.335+8G>A ENSP00000340883.6:p.=
ENST00000407082.4:c.335+8G>A ENSP00000385226.4:p.=
ENST00000407422.8:c.335+8G>A ENSP00000383984.3:p.=
ENST00000417137.6:c.362+8G>A ENSP00000388489.2:p.=
ENST00000491967.2:n.525+8G>A
ENST00000643421.1:n.330+8G>A
ENST00000644036.2:c.362+8G>A MANE Select ENSP00000494049.2:p.=
ENST00000644462.1:n.197+8G>A ENSP00000494283.1:p.=
ENST00000644619.1:c.362+8G>A ENSP00000494695.1:p.=
ENST00000646421.1:n.2218+8G>A
ENST00000646723.1:n.350+8G>A
ENST00000646911.1:n.274+8G>A
ENST00000647057.1:c.93+6434G>A ENSP00000494757.1:p.=
ENST00000263121.11:c.362+8G>A ENSP00000263121.7:p.=
ENST00000344921.10:c.335+8G>A ENSP00000340883.6:p.=
ENST00000407082.3:c.362+8G>A ENSP00000385226.3:p.=
ENST00000407422.7:c.335+8G>A ENSP00000383984.3:p.=
ENST00000417137.5:c.362+8G>A ENSP00000388489.1:p.=
ENST00000491967.1:n.88+8G>A
ENST00000634926.1:n.214+8G>A
ENST00000635578.1:n.187+8G>A
NM_001007468.1:c.335+8G>A NP_001007469.1:p.=
NM_003073.3:c.362+8G>A , LRG_520t1:c.362+8G>A NP_003064.2:p.=
XM_011530345.1:c.362+8G>A XP_011528647.1:p.=
XM_011530346.1:c.335+8G>A XP_011528648.1:p.=
NM_001007468.2:c.335+8G>A NP_001007469.1:p.=
NM_001317946.1:c.335+8G>A NP_001304875.1:p.=
NM_001362877.1:c.362+8G>A NP_001349806.1:p.=
NM_003073.4:c.362+8G>A NP_003064.2:p.=
NM_001007468.3:c.335+8G>A NP_001007469.1:p.=
NM_001317946.2:c.335+8G>A NP_001304875.1:p.=
NM_001362877.2:c.362+8G>A NP_001349806.1:p.=
NM_003073.5:c.362+8G>A MANE Select NP_003064.2:p.=