Canonical Allele Identifier: CA350504731

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217341863G>C (hg19) ; chr2:g.216477140G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216477140G>C , CM000664.2:g.216477140G>C	GRCh38
NC_000002.11:g.217341863G>C , CM000664.1:g.217341863G>C	GRCh37
NC_000002.10:g.217050108G>C	NCBI36
NG_009771.1:g.69727G>C , LRG_108:g.69727G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2459G>C	ENSP00000394410.2:p.Arg820Pro
ENST00000430374.6:c.2459G>C	ENSP00000405077.2:p.Arg820Pro
ENST00000444508.6:c.2459G>C	ENSP00000398969.2:p.Arg820Pro
ENST00000697899.1:c.2225G>C	ENSP00000513470.1:p.Arg742Pro
ENST00000697901.1:c.*1214G>C	ENSP00000513471.1:n.*1214G>C
ENST00000697903.1:c.*946G>C	ENSP00000513472.1:n.*946G>C
ENST00000697904.1:c.*946G>C	ENSP00000513473.1:n.*946G>C
ENST00000697905.1:c.*946G>C	ENSP00000513474.1:n.*946G>C
ENST00000697906.1:c.2225G>C	ENSP00000513475.1:p.Arg742Pro
ENST00000697907.1:c.*1317G>C	ENSP00000513476.1:n.*1317G>C
ENST00000697908.1:n.2153G>C
ENST00000697909.1:n.1351G>C
ENST00000697910.1:n.856G>C
ENST00000697911.1:n.765G>C
ENST00000357276.9:c.2459G>C MANE Select	ENSP00000349823.4:p.Arg820Pro
ENST00000357276.8:c.2459G>C	ENSP00000349823.4:p.Arg820Pro
ENST00000358207.9:c.2459G>C	ENSP00000350940.5:p.Arg820Pro
ENST00000392128.6:c.1985G>C	ENSP00000375974.2:p.Arg662Pro
NM_001127207.1:c.2459G>C	NP_001120679.1:p.Arg820Pro
NM_014140.3:c.2459G>C , LRG_108t1:c.2459G>C	NP_054859.2:p.Arg820Pro
XM_005246631.2:c.2459G>C	XP_005246688.1:p.Arg820Pro
XM_005246632.1:c.2459G>C	XP_005246689.1:p.Arg820Pro
XM_006712557.1:c.2393G>C	XP_006712620.1:p.Arg798Pro
XM_005246632.2:c.2459G>C	XP_005246689.1:p.Arg820Pro
XM_017004228.2:c.1547G>C	XP_016859717.1:p.Arg516Pro
NM_001127207.2:c.2459G>C	NP_001120679.1:p.Arg820Pro
NM_014140.4:c.2459G>C MANE Select	NP_054859.2:p.Arg820Pro