Canonical Allele Identifier: CA751827285

Gene: DERL3 SMARCB1

Linked Data

• dbSNP Id: rs1260812831
• gnomAD v4: 22-23834543-T-C
• MyVariant Identifiers: chr22:g.24176730T>C (hg19) ; chr22:g.23834543T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834543T>C , CM000684.2:g.23834543T>C	GRCh38
NC_000022.10:g.24176730T>C , CM000684.1:g.24176730T>C	GRCh37
NC_000022.9:g.22506730T>C	NCBI36
NG_009303.1:g.52581T>C , LRG_520:g.52581T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318109.12:c.*2326A>G (DERL3) MANE Select	ENSP00000315303.8:n.*2326A>G
ENST00000644036.2:c.*363T>C (SMARCB1) MANE Select	ENSP00000494049.2:n.*363T>C
ENST00000290730.11:n.3485A>G (DERL3)
ENST00000404056.1:c.*2517A>G (DERL3)	ENSP00000384473.1:n.*2517A>G
ENST00000406855.7:c.*284A>G (DERL3)	ENSP00000384744.3:n.*284A>G
ENST00000464023.1:n.605A>G (DERL3)
NM_001002862.2:c.*2326A>G (DERL3)	NP_001002862.1:n.*2326A>G
NM_001135751.1:c.*284A>G (DERL3)	NP_001129223.1:n.*284A>G
NM_198440.3:c.*2517A>G (DERL3)	NP_940842.2:n.*2517A>G
XM_011530504.1:c.*284A>G (DERL3)	XP_011528806.1:n.*284A>G
XM_011530506.1:c.*349A>G (DERL3)	XP_011528808.1:n.*349A>G
XM_011530507.1:c.*284A>G (DERL3)	XP_011528809.1:n.*284A>G
NM_001363072.1:c.*349A>G (DERL3)	NP_001350001.1:n.*349A>G
XM_017029082.2:c.*284A>G (DERL3)	XP_016884571.1:n.*284A>G
NM_001002862.3:c.*2326A>G (DERL3) MANE Select	NP_001002862.1:n.*2326A>G
NM_001007468.3:c.*363T>C (SMARCB1)	NP_001007469.1:n.*363T>C
NM_001135751.2:c.*284A>G (DERL3)	NP_001129223.1:n.*284A>G
NM_001317946.2:c.*363T>C (SMARCB1)	NP_001304875.1:n.*363T>C
NM_001362877.2:c.*363T>C (SMARCB1)	NP_001349806.1:n.*363T>C
NM_001363072.2:c.*349A>G (DERL3)	NP_001350001.1:n.*349A>G
NM_003073.5:c.*363T>C (SMARCB1) MANE Select	NP_003064.2:n.*363T>C
NM_198440.4:c.*2517A>G (DERL3)	NP_940842.2:n.*2517A>G