Canonical Allele Identifier: CA410914606

Gene: SMARCB1

Linked Data

• dbSNP Id: rs387906812
• gnomAD v4: 22-23834152-G-T
• COSMIC: COSM4596765 ; COSM4596766
• MyVariant Identifiers: chr22:g.24176339G>T (hg19) ; chr22:g.23834152G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834152G>T , CM000684.2:g.23834152G>T	GRCh38
NC_000022.10:g.24176339G>T , CM000684.1:g.24176339G>T	GRCh37
NC_000022.9:g.22506339G>T	NCBI36
NG_009303.1:g.52190G>T , LRG_520:g.52190G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.992G>T	ENSP00000263121.8:p.Arg331Leu
ENST00000344921.11:c.1157G>T	ENSP00000340883.6:p.Arg386Leu
ENST00000407422.8:c.1103G>T	ENSP00000383984.3:p.Arg368Leu
ENST00000644036.2:c.1130G>T MANE Select	ENSP00000494049.2:p.Arg377Leu
ENST00000644462.1:c.1848G>T	ENSP00000494283.1:n.1848G>T
ENST00000645799.1:n.2452G>T
ENST00000646723.1:n.3476G>T
ENST00000647057.1:c.*624G>T	ENSP00000494757.1:n.*624G>T
ENST00000263121.11:c.1130G>T	ENSP00000263121.7:p.Arg377Leu
ENST00000344921.10:c.1157G>T	ENSP00000340883.6:p.Arg386Leu
ENST00000407082.3:c.992G>T	ENSP00000385226.3:p.Arg331Leu
ENST00000407422.7:c.1103G>T	ENSP00000383984.3:p.Arg368Leu
NM_001007468.1:c.1103G>T	NP_001007469.1:p.Arg368Leu
NM_003073.3:c.1130G>T , LRG_520t1:c.1130G>T	NP_003064.2:p.Arg377Leu
XM_011530345.1:c.1184G>T	XP_011528647.1:p.Arg395Leu
XM_011530346.1:c.1157G>T	XP_011528648.1:p.Arg386Leu
NM_001007468.2:c.1103G>T	NP_001007469.1:p.Arg368Leu
NM_001317946.1:c.1157G>T	NP_001304875.1:p.Arg386Leu
NM_001362877.1:c.1184G>T	NP_001349806.1:p.Arg395Leu
NM_003073.4:c.1130G>T	NP_003064.2:p.Arg377Leu
NM_001007468.3:c.1103G>T	NP_001007469.1:p.Arg368Leu
NM_001317946.2:c.1157G>T	NP_001304875.1:p.Arg386Leu
NM_001362877.2:c.1184G>T	NP_001349806.1:p.Arg395Leu
NM_003073.5:c.1130G>T MANE Select	NP_003064.2:p.Arg377Leu