Canonical Allele Identifier: CA410913437

Gene: SMARCB1

Linked Data

• gnomAD v4: 22-23833643-T-C
• MyVariant Identifiers: chr22:g.24175830T>C (hg19) ; chr22:g.23833643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833643T>C , CM000684.2:g.23833643T>C	GRCh38
NC_000022.10:g.24175830T>C , CM000684.1:g.24175830T>C	GRCh37
NC_000022.9:g.22505830T>C	NCBI36
NG_009303.1:g.51681T>C , LRG_520:g.51681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.920T>C	ENSP00000263121.8:p.Leu307Pro
ENST00000344921.11:c.1085T>C	ENSP00000340883.6:p.Leu362Pro
ENST00000407422.8:c.1031T>C	ENSP00000383984.3:p.Leu344Pro
ENST00000644036.2:c.1058T>C MANE Select	ENSP00000494049.2:p.Leu353Pro
ENST00000644462.1:c.1776T>C	ENSP00000494283.1:n.1776T>C
ENST00000645799.1:n.2380T>C
ENST00000646723.1:n.3404T>C
ENST00000647057.1:c.*552T>C	ENSP00000494757.1:n.*552T>C
ENST00000263121.11:c.1058T>C	ENSP00000263121.7:p.Leu353Pro
ENST00000344921.10:c.1085T>C	ENSP00000340883.6:p.Leu362Pro
ENST00000407082.3:c.920T>C	ENSP00000385226.3:p.Leu307Pro
ENST00000407422.7:c.1031T>C	ENSP00000383984.3:p.Leu344Pro
NM_001007468.1:c.1031T>C	NP_001007469.1:p.Leu344Pro
NM_003073.3:c.1058T>C , LRG_520t1:c.1058T>C	NP_003064.2:p.Leu353Pro
XM_011530345.1:c.1112T>C	XP_011528647.1:p.Leu371Pro
XM_011530346.1:c.1085T>C	XP_011528648.1:p.Leu362Pro
NM_001007468.2:c.1031T>C	NP_001007469.1:p.Leu344Pro
NM_001317946.1:c.1085T>C	NP_001304875.1:p.Leu362Pro
NM_001362877.1:c.1112T>C	NP_001349806.1:p.Leu371Pro
NM_003073.4:c.1058T>C	NP_003064.2:p.Leu353Pro
NM_001007468.3:c.1031T>C	NP_001007469.1:p.Leu344Pro
NM_001317946.2:c.1085T>C	NP_001304875.1:p.Leu362Pro
NM_001362877.2:c.1112T>C	NP_001349806.1:p.Leu371Pro
NM_003073.5:c.1058T>C MANE Select	NP_003064.2:p.Leu353Pro