Canonical Allele Identifier: CA2818530549

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833910C>T , CM000684.2:g.23833910C>T	GRCh38
NC_000022.10:g.24176097C>T , CM000684.1:g.24176097C>T	GRCh37
NC_000022.9:g.22506097C>T	NCBI36
NG_009303.1:g.51948C>T , LRG_520:g.51948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.980+207C>T	ENSP00000263121.8:n.980+207C>T
ENST00000344921.11:c.1145+207C>T	ENSP00000340883.6:n.1145+207C>T
ENST00000407422.8:c.1091+207C>T	ENSP00000383984.3:n.1091+207C>T
ENST00000644036.2:c.1118+207C>T MANE Select	ENSP00000494049.2:n.1118+207C>T
ENST00000644462.1:c.1836+207C>T	ENSP00000494283.1:n.1836+207C>T
ENST00000645799.1:n.2440+207C>T
ENST00000646723.1:n.3464+207C>T
ENST00000647057.1:c.*612+207C>T	ENSP00000494757.1:n.*612+207C>T
ENST00000263121.11:c.1118+207C>T	ENSP00000263121.7:n.1118+207C>T
ENST00000344921.10:c.1145+207C>T	ENSP00000340883.6:n.1145+207C>T
ENST00000407082.3:c.980+207C>T	ENSP00000385226.3:n.980+207C>T
ENST00000407422.7:c.1091+207C>T	ENSP00000383984.3:n.1091+207C>T
NM_001007468.1:c.1091+207C>T	NP_001007469.1:n.1091+207C>T
NM_003073.3:c.1118+207C>T , LRG_520t1:c.1118+207C>T	NP_003064.2:n.1118+207C>T
XM_011530345.1:c.1172+207C>T	XP_011528647.1:n.1172+207C>T
XM_011530346.1:c.1145+207C>T	XP_011528648.1:n.1145+207C>T
NM_001007468.2:c.1091+207C>T	NP_001007469.1:n.1091+207C>T
NM_001317946.1:c.1145+207C>T	NP_001304875.1:n.1145+207C>T
NM_001362877.1:c.1172+207C>T	NP_001349806.1:n.1172+207C>T
NM_003073.4:c.1118+207C>T	NP_003064.2:n.1118+207C>T
NM_001007468.3:c.1091+207C>T	NP_001007469.1:n.1091+207C>T
NM_001317946.2:c.1145+207C>T	NP_001304875.1:n.1145+207C>T
NM_001362877.2:c.1172+207C>T	NP_001349806.1:n.1172+207C>T
NM_003073.5:c.1118+207C>T MANE Select	NP_003064.2:n.1118+207C>T