Canonical Allele Identifier: CA410913920

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2146042724
• COSMIC: COSM997 ; COSM478791
• MyVariant Identifiers: chr22:g.24175874C>T (hg19) ; chr22:g.23833687C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833687C>T , CM000684.2:g.23833687C>T	GRCh38
NC_000022.10:g.24175874C>T , CM000684.1:g.24175874C>T	GRCh37
NC_000022.9:g.22505874C>T	NCBI36
NG_009303.1:g.51725C>T , LRG_520:g.51725C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.964C>T	ENSP00000263121.8:p.Gln322Ter
ENST00000344921.11:c.1129C>T	ENSP00000340883.6:p.Gln377Ter
ENST00000407422.8:c.1075C>T	ENSP00000383984.3:p.Gln359Ter
ENST00000644036.2:c.1102C>T MANE Select	ENSP00000494049.2:p.Gln368Ter
ENST00000644462.1:c.1820C>T	ENSP00000494283.1:n.1820C>T
ENST00000645799.1:n.2424C>T
ENST00000646723.1:n.3448C>T
ENST00000647057.1:c.*596C>T	ENSP00000494757.1:n.*596C>T
ENST00000263121.11:c.1102C>T	ENSP00000263121.7:p.Gln368Ter
ENST00000344921.10:c.1129C>T	ENSP00000340883.6:p.Gln377Ter
ENST00000407082.3:c.964C>T	ENSP00000385226.3:p.Gln322Ter
ENST00000407422.7:c.1075C>T	ENSP00000383984.3:p.Gln359Ter
NM_001007468.1:c.1075C>T	NP_001007469.1:p.Gln359Ter
NM_003073.3:c.1102C>T , LRG_520t1:c.1102C>T	NP_003064.2:p.Gln368Ter
XM_011530345.1:c.1156C>T	XP_011528647.1:p.Gln386Ter
XM_011530346.1:c.1129C>T	XP_011528648.1:p.Gln377Ter
NM_001007468.2:c.1075C>T	NP_001007469.1:p.Gln359Ter
NM_001317946.1:c.1129C>T	NP_001304875.1:p.Gln377Ter
NM_001362877.1:c.1156C>T	NP_001349806.1:p.Gln386Ter
NM_003073.4:c.1102C>T	NP_003064.2:p.Gln368Ter
NM_001007468.3:c.1075C>T	NP_001007469.1:p.Gln359Ter
NM_001317946.2:c.1129C>T	NP_001304875.1:p.Gln377Ter
NM_001362877.2:c.1156C>T	NP_001349806.1:p.Gln386Ter
NM_003073.5:c.1102C>T MANE Select	NP_003064.2:p.Gln368Ter