Canonical Allele Identifier: CA410934073

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 2566863
• ClinVar RCV Id: RCV003306779
• dbSNP Id: rs2145964480
• MyVariant Identifiers: chr22:g.24135862C>T (hg19) ; chr22:g.23793675C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793675C>T , CM000684.2:g.23793675C>T	GRCh38
NC_000022.10:g.24135862C>T , CM000684.1:g.24135862C>T	GRCh37
NC_000022.9:g.22465862C>T	NCBI36
NG_009303.1:g.11713C>T , LRG_520:g.11713C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.349C>T	ENSP00000263121.8:p.Pro117Ser
ENST00000344921.11:c.322C>T	ENSP00000340883.6:p.Pro108Ser
ENST00000407082.4:c.322C>T	ENSP00000385226.4:p.Pro108Ser
ENST00000407422.8:c.322C>T	ENSP00000383984.3:p.Pro108Ser
ENST00000417137.6:c.349C>T	ENSP00000388489.2:p.Pro117Ser
ENST00000491967.2:n.512C>T
ENST00000643421.1:n.317C>T
ENST00000644036.2:c.349C>T MANE Select	ENSP00000494049.2:p.Pro117Ser
ENST00000644462.1:c.184C>T	ENSP00000494283.1:p.Pro62Ser
ENST00000644619.1:c.349C>T	ENSP00000494695.1:p.Pro117Ser
ENST00000646421.1:n.2205C>T
ENST00000646723.1:n.337C>T
ENST00000646911.1:n.261C>T
ENST00000647057.1:c.93+6413C>T	ENSP00000494757.1:n.93+6413C>T
ENST00000263121.11:c.349C>T	ENSP00000263121.7:p.Pro117Ser
ENST00000344921.10:c.322C>T	ENSP00000340883.6:p.Pro108Ser
ENST00000407082.3:c.349C>T	ENSP00000385226.3:p.Pro117Ser
ENST00000407422.7:c.322C>T	ENSP00000383984.3:p.Pro108Ser
ENST00000417137.5:c.349C>T	ENSP00000388489.1:p.Pro117Ser
ENST00000491967.1:n.75C>T
ENST00000634926.1:c.201C>T
ENST00000635578.1:c.174C>T
NM_001007468.1:c.322C>T	NP_001007469.1:p.Pro108Ser
NM_003073.3:c.349C>T , LRG_520t1:c.349C>T	NP_003064.2:p.Pro117Ser
XM_011530345.1:c.349C>T	XP_011528647.1:p.Pro117Ser
XM_011530346.1:c.322C>T	XP_011528648.1:p.Pro108Ser
NM_001007468.2:c.322C>T	NP_001007469.1:p.Pro108Ser
NM_001317946.1:c.322C>T	NP_001304875.1:p.Pro108Ser
NM_001362877.1:c.349C>T	NP_001349806.1:p.Pro117Ser
NM_003073.4:c.349C>T	NP_003064.2:p.Pro117Ser
NM_001007468.3:c.322C>T	NP_001007469.1:p.Pro108Ser
NM_001317946.2:c.322C>T	NP_001304875.1:p.Pro108Ser
NM_001362877.2:c.349C>T	NP_001349806.1:p.Pro117Ser
NM_003073.5:c.349C>T MANE Select	NP_003064.2:p.Pro117Ser