Canonical Allele Identifier: CA410912869

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24175763A>C (hg19) ; chr22:g.23833576A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833576A>C , CM000684.2:g.23833576A>C	GRCh38
NC_000022.10:g.24175763A>C , CM000684.1:g.24175763A>C	GRCh37
NC_000022.9:g.22505763A>C	NCBI36
NG_009303.1:g.51614A>C , LRG_520:g.51614A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.853A>C	ENSP00000263121.8:p.Asn285His
ENST00000344921.11:c.1018A>C	ENSP00000340883.6:p.Asn340His
ENST00000407422.8:c.964A>C	ENSP00000383984.3:p.Asn322His
ENST00000477836.2:n.2142A>C
ENST00000644036.2:c.991A>C MANE Select	ENSP00000494049.2:p.Asn331His
ENST00000644462.1:c.1709A>C	ENSP00000494283.1:n.1709A>C
ENST00000645799.1:n.2313A>C
ENST00000646723.1:n.3337A>C
ENST00000647057.1:c.*485A>C	ENSP00000494757.1:n.*485A>C
ENST00000263121.11:c.991A>C	ENSP00000263121.7:p.Asn331His
ENST00000344921.10:c.1018A>C	ENSP00000340883.6:p.Asn340His
ENST00000407082.3:c.853A>C	ENSP00000385226.3:p.Asn285His
ENST00000407422.7:c.964A>C	ENSP00000383984.3:p.Asn322His
NM_001007468.1:c.964A>C	NP_001007469.1:p.Asn322His
NM_003073.3:c.991A>C , LRG_520t1:c.991A>C	NP_003064.2:p.Asn331His
XM_011530345.1:c.1045A>C	XP_011528647.1:p.Asn349His
XM_011530346.1:c.1018A>C	XP_011528648.1:p.Asn340His
NM_001007468.2:c.964A>C	NP_001007469.1:p.Asn322His
NM_001317946.1:c.1018A>C	NP_001304875.1:p.Asn340His
NM_001362877.1:c.1045A>C	NP_001349806.1:p.Asn349His
NM_003073.4:c.991A>C	NP_003064.2:p.Asn331His
NM_001007468.3:c.964A>C	NP_001007469.1:p.Asn322His
NM_001317946.2:c.1018A>C	NP_001304875.1:p.Asn340His
NM_001362877.2:c.1045A>C	NP_001349806.1:p.Asn349His
NM_003073.5:c.991A>C MANE Select	NP_003064.2:p.Asn331His