Canonical Allele Identifier: CA2655715596

Gene: SMARCB1 DERL3

Linked Data

• gnomAD v4: 22-23834498-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834498T>C , CM000684.2:g.23834498T>C	GRCh38
NC_000022.10:g.24176685T>C , CM000684.1:g.24176685T>C	GRCh37
NC_000022.9:g.22506685T>C	NCBI36
NG_009303.1:g.52536T>C , LRG_520:g.52536T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*318T>C (SMARCB1)	ENSP00000263121.8:n.*318T>C
ENST00000344921.11:c.*318T>C (SMARCB1)	ENSP00000340883.6:n.*318T>C
ENST00000407422.8:c.*318T>C (SMARCB1)	ENSP00000383984.3:n.*318T>C
ENST00000644036.2:c.*318T>C (SMARCB1) MANE Select	ENSP00000494049.2:n.*318T>C
ENST00000647057.1:c.*970T>C (SMARCB1)	ENSP00000494757.1:n.*970T>C
ENST00000263121.11:c.*318T>C (SMARCB1)	ENSP00000263121.7:n.*318T>C
ENST00000344921.10:c.*318T>C (SMARCB1)	ENSP00000340883.6:n.*318T>C
ENST00000407422.7:c.*318T>C (SMARCB1)	ENSP00000383984.3:n.*318T>C
NM_001007468.1:c.*318T>C (SMARCB1)	NP_001007469.1:n.*318T>C
NM_003073.3:c.*318T>C , LRG_520t1:c.*318T>C (SMARCB1)	NP_003064.2:n.*318T>C
XM_011530345.1:c.*318T>C (SMARCB1)	XP_011528647.1:n.*318T>C
XM_011530346.1:c.*318T>C (SMARCB1)	XP_011528648.1:n.*318T>C
NM_001007468.2:c.*318T>C (SMARCB1)	NP_001007469.1:n.*318T>C
NM_001317946.1:c.*318T>C (SMARCB1)	NP_001304875.1:n.*318T>C
NM_001362877.1:c.*318T>C (SMARCB1)	NP_001349806.1:n.*318T>C
NM_003073.4:c.*318T>C (SMARCB1)	NP_003064.2:n.*318T>C
XM_017029082.2:c.*329A>G (DERL3)	XP_016884571.1:n.*329A>G
NM_001007468.3:c.*318T>C (SMARCB1)	NP_001007469.1:n.*318T>C
NM_001317946.2:c.*318T>C (SMARCB1)	NP_001304875.1:n.*318T>C
NM_001362877.2:c.*318T>C (SMARCB1)	NP_001349806.1:n.*318T>C
NM_003073.5:c.*318T>C (SMARCB1) MANE Select	NP_003064.2:n.*318T>C