Canonical Allele Identifier: CA2397958247
Community Standard Title: NM_003073.5(SMARCB1):c.92A= (p.Glu31=)
Gene: SMARCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23787261A= , CM000684.2:g.23787261A= GRCh38
NC_000022.10:g.24129448A= , CM000684.1:g.24129448A= GRCh37
NC_000022.9:g.22459448A= NCBI36
NG_009303.1:g.5299A= , LRG_520:g.5299A=

Transcript Alleles

HGVS Amino-acid Change
NM_003073.5:c.92A= MANE Select NP_003064.2:p.Glu31=
ENST00000644036.2:c.92A= MANE Select ENSP00000494049.2:p.Glu31=
NM_001007468.1:c.92A= NP_001007469.1:p.Glu31=
NM_001007468.2:c.92A= NP_001007469.1:p.Glu31=
NM_001007468.3:c.92A= NP_001007469.1:p.Glu31=
NM_001317946.1:c.92A= NP_001304875.1:p.Glu31=
NM_001317946.2:c.92A= NP_001304875.1:p.Glu31=
NM_001362877.1:c.92A= NP_001349806.1:p.Glu31=
NM_001362877.2:c.92A= NP_001349806.1:p.Glu31=
NM_003073.3:c.92A= , LRG_520t1:c.92A= NP_003064.2:p.Glu31=
NM_003073.4:c.92A= NP_003064.2:p.Glu31=
ENST00000263121.11:c.92A= ENSP00000263121.7:p.Glu31=
ENST00000263121.12:c.92A= ENSP00000263121.8:p.Glu31=
ENST00000344921.10:c.92A= ENSP00000340883.6:p.Glu31=
ENST00000344921.11:c.92A= ENSP00000340883.6:p.Glu31=
ENST00000407082.3:c.92A= ENSP00000385226.3:p.Glu31=
ENST00000407082.4:c.92A= ENSP00000385226.4:p.Glu31=
ENST00000407422.7:c.92A= ENSP00000383984.3:p.Glu31=
ENST00000407422.8:c.92A= ENSP00000383984.3:p.Glu31=
ENST00000417137.5:c.92A= ENSP00000388489.1:p.Glu31=
ENST00000417137.6:c.92A= ENSP00000388489.2:p.Glu31=
ENST00000491967.2:n.282A=
ENST00000643421.1:n.60A=
ENST00000644619.1:c.92A= ENSP00000494695.1:p.Glu31=
ENST00000646421.1:n.284A=
ENST00000646723.1:n.80A=
ENST00000646911.1:n.4A=
ENST00000647057.1:c.92A= ENSP00000494757.1:p.Glu31=
XM_011530345.1:c.92A= XP_011528647.1:p.Glu31=
XM_011530346.1:c.92A= XP_011528648.1:p.Glu31=