Canonical Allele Identifier: CA410932723
Gene: SMARCB1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23791814G>C , CM000684.2:g.23791814G>C GRCh38
NC_000022.10:g.24134001G>C , CM000684.1:g.24134001G>C GRCh37
NC_000022.9:g.22464001G>C NCBI36
NG_009303.1:g.9852G>C , LRG_520:g.9852G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.152G>C ENSP00000263121.8:p.Trp51Ser
ENST00000344921.11:c.152G>C ENSP00000340883.6:p.Trp51Ser
ENST00000407082.4:c.152G>C ENSP00000385226.4:p.Trp51Ser
ENST00000407422.8:c.152G>C ENSP00000383984.3:p.Trp51Ser
ENST00000417137.6:c.152G>C ENSP00000388489.2:p.Trp51Ser
ENST00000491967.2:n.342G>C
ENST00000643421.1:n.120G>C
ENST00000644036.2:c.152G>C MANE Select ENSP00000494049.2:p.Trp51Ser
ENST00000644462.1:c.14G>C ENSP00000494283.1:p.Trp5Ser
ENST00000644619.1:c.152G>C ENSP00000494695.1:p.Trp51Ser
ENST00000646421.1:n.344G>C
ENST00000646723.1:n.140G>C
ENST00000646911.1:n.64G>C
ENST00000647057.1:c.93+4552G>C ENSP00000494757.1:n.93+4552G>C
ENST00000263121.11:c.152G>C ENSP00000263121.7:p.Trp51Ser
ENST00000344921.10:c.152G>C ENSP00000340883.6:p.Trp51Ser
ENST00000407082.3:c.152G>C ENSP00000385226.3:p.Trp51Ser
ENST00000407422.7:c.152G>C ENSP00000383984.3:p.Trp51Ser
ENST00000417137.5:c.152G>C ENSP00000388489.1:p.Trp51Ser
ENST00000634926.1:c.4G>C
ENST00000635578.1:c.4G>C
NM_001007468.1:c.152G>C NP_001007469.1:p.Trp51Ser
NM_003073.3:c.152G>C , LRG_520t1:c.152G>C NP_003064.2:p.Trp51Ser
XM_011530345.1:c.152G>C XP_011528647.1:p.Trp51Ser
XM_011530346.1:c.152G>C XP_011528648.1:p.Trp51Ser
NM_001007468.2:c.152G>C NP_001007469.1:p.Trp51Ser
NM_001317946.1:c.152G>C NP_001304875.1:p.Trp51Ser
NM_001362877.1:c.152G>C NP_001349806.1:p.Trp51Ser
NM_003073.4:c.152G>C NP_003064.2:p.Trp51Ser
NM_001007468.3:c.152G>C NP_001007469.1:p.Trp51Ser
NM_001317946.2:c.152G>C NP_001304875.1:p.Trp51Ser
NM_001362877.2:c.152G>C NP_001349806.1:p.Trp51Ser
NM_003073.5:c.152G>C MANE Select NP_003064.2:p.Trp51Ser