Canonical Allele Identifier: CA638690326

Gene: SMARCB1 DERL3

Linked Data

• dbSNP Id: rs1229036799
• gnomAD v2: 22-24176688-T-C
• gnomAD v4: 22-23834501-T-C
• MyVariant Identifiers: chr22:g.24176688T>C (hg19) ; chr22:g.23834501T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834501T>C , CM000684.2:g.23834501T>C	GRCh38
NC_000022.10:g.24176688T>C , CM000684.1:g.24176688T>C	GRCh37
NC_000022.9:g.22506688T>C	NCBI36
NG_009303.1:g.52539T>C , LRG_520:g.52539T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*321T>C (SMARCB1)	ENSP00000263121.8:n.*321T>C
ENST00000344921.11:c.*321T>C (SMARCB1)	ENSP00000340883.6:n.*321T>C
ENST00000407422.8:c.*321T>C (SMARCB1)	ENSP00000383984.3:n.*321T>C
ENST00000644036.2:c.*321T>C (SMARCB1) MANE Select	ENSP00000494049.2:n.*321T>C
ENST00000647057.1:c.*973T>C (SMARCB1)	ENSP00000494757.1:n.*973T>C
ENST00000263121.11:c.*321T>C (SMARCB1)	ENSP00000263121.7:n.*321T>C
ENST00000344921.10:c.*321T>C (SMARCB1)	ENSP00000340883.6:n.*321T>C
ENST00000407422.7:c.*321T>C (SMARCB1)	ENSP00000383984.3:n.*321T>C
NM_001007468.1:c.*321T>C (SMARCB1)	NP_001007469.1:n.*321T>C
NM_003073.3:c.*321T>C , LRG_520t1:c.*321T>C (SMARCB1)	NP_003064.2:n.*321T>C
XM_011530345.1:c.*321T>C (SMARCB1)	XP_011528647.1:n.*321T>C
XM_011530346.1:c.*321T>C (SMARCB1)	XP_011528648.1:n.*321T>C
NM_001007468.2:c.*321T>C (SMARCB1)	NP_001007469.1:n.*321T>C
NM_001317946.1:c.*321T>C (SMARCB1)	NP_001304875.1:n.*321T>C
NM_001362877.1:c.*321T>C (SMARCB1)	NP_001349806.1:n.*321T>C
NM_003073.4:c.*321T>C (SMARCB1)	NP_003064.2:n.*321T>C
XM_017029082.2:c.*326A>G (DERL3)	XP_016884571.1:n.*326A>G
NM_001007468.3:c.*321T>C (SMARCB1)	NP_001007469.1:n.*321T>C
NM_001317946.2:c.*321T>C (SMARCB1)	NP_001304875.1:n.*321T>C
NM_001362877.2:c.*321T>C (SMARCB1)	NP_001349806.1:n.*321T>C
NM_003073.5:c.*321T>C (SMARCB1) MANE Select	NP_003064.2:n.*321T>C