Canonical Allele Identifier: CA513764484

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 2562339
• ClinVar RCV Id: RCV003310399
• gnomAD v4: 22-23787220-C-T
• MyVariant Identifiers: chr22:g.24129407C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23787220C>T , CM000684.2:g.23787220C>T	GRCh38
NC_000022.10:g.24129407C>T , CM000684.1:g.24129407C>T	GRCh37
NC_000022.9:g.22459407C>T	NCBI36
NG_009303.1:g.5258C>T , LRG_520:g.5258C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.51C>T	ENSP00000263121.8:p.Phe17=
ENST00000344921.11:c.51C>T	ENSP00000340883.6:p.Phe17=
ENST00000407082.4:c.51C>T	ENSP00000385226.4:p.Phe17=
ENST00000407422.8:c.51C>T	ENSP00000383984.3:p.Phe17=
ENST00000417137.6:c.51C>T	ENSP00000388489.2:p.Phe17=
ENST00000491967.2:n.241C>T
ENST00000643421.1:n.19C>T
ENST00000644036.2:c.51C>T MANE Select	ENSP00000494049.2:p.Phe17=
ENST00000644619.1:c.51C>T	ENSP00000494695.1:p.Phe17=
ENST00000646421.1:n.243C>T
ENST00000646723.1:n.39C>T
ENST00000647057.1:c.51C>T	ENSP00000494757.1:p.Phe17=
ENST00000263121.11:c.51C>T	ENSP00000263121.7:p.Phe17=
ENST00000344921.10:c.51C>T	ENSP00000340883.6:p.Phe17=
ENST00000407082.3:c.51C>T	ENSP00000385226.3:p.Phe17=
ENST00000407422.7:c.51C>T	ENSP00000383984.3:p.Phe17=
ENST00000417137.5:c.51C>T	ENSP00000388489.1:p.Phe17=
NM_001007468.1:c.51C>T	NP_001007469.1:p.Phe17=
NM_003073.3:c.51C>T , LRG_520t1:c.51C>T	NP_003064.2:p.Phe17=
XM_011530345.1:c.51C>T	XP_011528647.1:p.Phe17=
XM_011530346.1:c.51C>T	XP_011528648.1:p.Phe17=
NM_001007468.2:c.51C>T	NP_001007469.1:p.Phe17=
NM_001317946.1:c.51C>T	NP_001304875.1:p.Phe17=
NM_001362877.1:c.51C>T	NP_001349806.1:p.Phe17=
NM_003073.4:c.51C>T	NP_003064.2:p.Phe17=
NM_001007468.3:c.51C>T	NP_001007469.1:p.Phe17=
NM_001317946.2:c.51C>T	NP_001304875.1:p.Phe17=
NM_001362877.2:c.51C>T	NP_001349806.1:p.Phe17=
NM_003073.5:c.51C>T MANE Select	NP_003064.2:p.Phe17=