Canonical Allele Identifier: CA2738001145
Gene: SMARCB1 HGNC NCBI

Linked Data

dbSNP Id: rs2145964686

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23793706A>T , CM000684.2:g.23793706A>T GRCh38
NC_000022.10:g.24135893A>T , CM000684.1:g.24135893A>T GRCh37
NC_000022.9:g.22465893A>T NCBI36
NG_009303.1:g.11744A>T , LRG_520:g.11744A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263121.12:c.362+18A>T ENSP00000263121.8:n.362+18A>T
ENST00000344921.11:c.335+18A>T ENSP00000340883.6:n.335+18A>T
ENST00000407082.4:c.335+18A>T ENSP00000385226.4:n.335+18A>T
ENST00000407422.8:c.335+18A>T ENSP00000383984.3:n.335+18A>T
ENST00000417137.6:c.362+18A>T ENSP00000388489.2:n.362+18A>T
ENST00000491967.2:n.525+18A>T
ENST00000643421.1:n.330+18A>T
ENST00000644036.2:c.362+18A>T MANE Select ENSP00000494049.2:n.362+18A>T
ENST00000644462.1:c.197+18A>T ENSP00000494283.1:n.197+18A>T
ENST00000644619.1:c.362+18A>T ENSP00000494695.1:n.362+18A>T
ENST00000646421.1:n.2218+18A>T
ENST00000646723.1:n.350+18A>T
ENST00000646911.1:n.274+18A>T
ENST00000647057.1:c.93+6444A>T ENSP00000494757.1:n.93+6444A>T
ENST00000263121.11:c.362+18A>T ENSP00000263121.7:n.362+18A>T
ENST00000344921.10:c.335+18A>T ENSP00000340883.6:n.335+18A>T
ENST00000407082.3:c.362+18A>T ENSP00000385226.3:n.362+18A>T
ENST00000407422.7:c.335+18A>T ENSP00000383984.3:n.335+18A>T
ENST00000417137.5:c.362+18A>T ENSP00000388489.1:n.362+18A>T
ENST00000491967.1:n.88+18A>T
ENST00000634926.1:c.214+18A>T
ENST00000635578.1:c.187+18A>T
NM_001007468.1:c.335+18A>T NP_001007469.1:n.335+18A>T
NM_003073.3:c.362+18A>T , LRG_520t1:c.362+18A>T NP_003064.2:n.362+18A>T
XM_011530345.1:c.362+18A>T XP_011528647.1:n.362+18A>T
XM_011530346.1:c.335+18A>T XP_011528648.1:n.335+18A>T
NM_001007468.2:c.335+18A>T NP_001007469.1:n.335+18A>T
NM_001317946.1:c.335+18A>T NP_001304875.1:n.335+18A>T
NM_001362877.1:c.362+18A>T NP_001349806.1:n.362+18A>T
NM_003073.4:c.362+18A>T NP_003064.2:n.362+18A>T
NM_001007468.3:c.335+18A>T NP_001007469.1:n.335+18A>T
NM_001317946.2:c.335+18A>T NP_001304875.1:n.335+18A>T
NM_001362877.2:c.362+18A>T NP_001349806.1:n.362+18A>T
NM_003073.5:c.362+18A>T MANE Select NP_003064.2:n.362+18A>T