Canonical Allele Identifier: CA322582983

Gene: DERL3 SMARCB1

Linked Data

• dbSNP Id: rs879160989
• MyVariant Identifiers: chr22:g.24176706G>T (hg19) ; chr22:g.23834519G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834519G>T , CM000684.2:g.23834519G>T	GRCh38
NC_000022.10:g.24176706G>T , CM000684.1:g.24176706G>T	GRCh37
NC_000022.9:g.22506706G>T	NCBI36
NG_009303.1:g.52557G>T , LRG_520:g.52557G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318109.12:c.*2350C>A (DERL3) MANE Select	ENSP00000315303.8:n.*2350C>A
ENST00000407422.8:c.*339G>T (SMARCB1)	ENSP00000383984.3:n.*339G>T
ENST00000644036.2:c.*339G>T (SMARCB1) MANE Select	ENSP00000494049.2:n.*339G>T
ENST00000290730.11:n.3509C>A (DERL3)
ENST00000404056.1:c.*2541C>A (DERL3)	ENSP00000384473.1:n.*2541C>A
ENST00000406855.7:c.*308C>A (DERL3)	ENSP00000384744.3:n.*308C>A
ENST00000464023.1:n.629C>A (DERL3)
NM_001002862.2:c.*2350C>A (DERL3)	NP_001002862.1:n.*2350C>A
NM_001135751.1:c.*308C>A (DERL3)	NP_001129223.1:n.*308C>A
NM_198440.3:c.*2541C>A (DERL3)	NP_940842.2:n.*2541C>A
XM_011530504.1:c.*308C>A (DERL3)	XP_011528806.1:n.*308C>A
XM_011530506.1:c.*373C>A (DERL3)	XP_011528808.1:n.*373C>A
XM_011530507.1:c.*308C>A (DERL3)	XP_011528809.1:n.*308C>A
NM_001363072.1:c.*373C>A (DERL3)	NP_001350001.1:n.*373C>A
XM_017029082.2:c.*308C>A (DERL3)	XP_016884571.1:n.*308C>A
NM_001002862.3:c.*2350C>A (DERL3) MANE Select	NP_001002862.1:n.*2350C>A
NM_001007468.3:c.*339G>T (SMARCB1)	NP_001007469.1:n.*339G>T
NM_001135751.2:c.*308C>A (DERL3)	NP_001129223.1:n.*308C>A
NM_001317946.2:c.*339G>T (SMARCB1)	NP_001304875.1:n.*339G>T
NM_001362877.2:c.*339G>T (SMARCB1)	NP_001349806.1:n.*339G>T
NM_001363072.2:c.*373C>A (DERL3)	NP_001350001.1:n.*373C>A
NM_003073.5:c.*339G>T (SMARCB1) MANE Select	NP_003064.2:n.*339G>T
NM_198440.4:c.*2541C>A (DERL3)	NP_940842.2:n.*2541C>A