Canonical Allele Identifier: CA322582978

Gene: DERL3 SMARCB1

Linked Data

• dbSNP Id: rs878883919
• gnomAD v2: 22-24176705-A-G
• gnomAD v4: 22-23834518-A-G
• MyVariant Identifiers: chr22:g.24176705A>G (hg19) ; chr22:g.23834518A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834518A>G , CM000684.2:g.23834518A>G	GRCh38
NC_000022.10:g.24176705A>G , CM000684.1:g.24176705A>G	GRCh37
NC_000022.9:g.22506705A>G	NCBI36
NG_009303.1:g.52556A>G , LRG_520:g.52556A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318109.12:c.*2351T>C (DERL3) MANE Select	ENSP00000315303.8:n.*2351T>C
ENST00000407422.8:c.*338A>G (SMARCB1)	ENSP00000383984.3:n.*338A>G
ENST00000644036.2:c.*338A>G (SMARCB1) MANE Select	ENSP00000494049.2:n.*338A>G
ENST00000290730.11:n.3510T>C (DERL3)
ENST00000404056.1:c.*2542T>C (DERL3)	ENSP00000384473.1:n.*2542T>C
ENST00000406855.7:c.*309T>C (DERL3)	ENSP00000384744.3:n.*309T>C
ENST00000464023.1:n.630T>C (DERL3)
NM_001002862.2:c.*2351T>C (DERL3)	NP_001002862.1:n.*2351T>C
NM_001007468.1:c.*338A>G (SMARCB1)	NP_001007469.1:n.*338A>G
NM_001135751.1:c.*309T>C (DERL3)	NP_001129223.1:n.*309T>C
NM_003073.3:c.*338A>G , LRG_520t1:c.*338A>G (SMARCB1)	NP_003064.2:n.*338A>G
NM_198440.3:c.*2542T>C (DERL3)	NP_940842.2:n.*2542T>C
XM_011530504.1:c.*309T>C (DERL3)	XP_011528806.1:n.*309T>C
XM_011530506.1:c.*374T>C (DERL3)	XP_011528808.1:n.*374T>C
XM_011530507.1:c.*309T>C (DERL3)	XP_011528809.1:n.*309T>C
NM_001007468.2:c.*338A>G (SMARCB1)	NP_001007469.1:n.*338A>G
NM_001317946.1:c.*338A>G (SMARCB1)	NP_001304875.1:n.*338A>G
NM_001362877.1:c.*338A>G (SMARCB1)	NP_001349806.1:n.*338A>G
NM_001363072.1:c.*374T>C (DERL3)	NP_001350001.1:n.*374T>C
NM_003073.4:c.*338A>G (SMARCB1)	NP_003064.2:n.*338A>G
XM_017029082.2:c.*309T>C (DERL3)	XP_016884571.1:n.*309T>C
NM_001002862.3:c.*2351T>C (DERL3) MANE Select	NP_001002862.1:n.*2351T>C
NM_001007468.3:c.*338A>G (SMARCB1)	NP_001007469.1:n.*338A>G
NM_001135751.2:c.*309T>C (DERL3)	NP_001129223.1:n.*309T>C
NM_001317946.2:c.*338A>G (SMARCB1)	NP_001304875.1:n.*338A>G
NM_001362877.2:c.*338A>G (SMARCB1)	NP_001349806.1:n.*338A>G
NM_001363072.2:c.*374T>C (DERL3)	NP_001350001.1:n.*374T>C
NM_003073.5:c.*338A>G (SMARCB1) MANE Select	NP_003064.2:n.*338A>G
NM_198440.4:c.*2542T>C (DERL3)	NP_940842.2:n.*2542T>C