Canonical Allele Identifier: CA350504920

Gene: SMARCAL1

Linked Data

• COSMIC: COSM1306416
• MyVariant Identifiers: chr2:g.217342939G>C (hg19) ; chr2:g.216478216G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216478216G>C , CM000664.2:g.216478216G>C	GRCh38
NC_000002.11:g.217342939G>C , CM000664.1:g.217342939G>C	GRCh37
NC_000002.10:g.217051184G>C	NCBI36
NG_009771.1:g.70803G>C , LRG_108:g.70803G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2542G>C	ENSP00000394410.2:p.Glu848Gln
ENST00000430374.6:c.2542G>C	ENSP00000405077.2:p.Glu848Gln
ENST00000444508.6:c.2542G>C	ENSP00000398969.2:p.Glu848Gln
ENST00000697899.1:c.2308G>C	ENSP00000513470.1:p.Glu770Gln
ENST00000697901.1:c.*1297G>C	ENSP00000513471.1:n.*1297G>C
ENST00000697903.1:c.*1029G>C	ENSP00000513472.1:n.*1029G>C
ENST00000697904.1:c.*1029G>C	ENSP00000513473.1:n.*1029G>C
ENST00000697905.1:c.*1029G>C	ENSP00000513474.1:n.*1029G>C
ENST00000697906.1:c.2308G>C	ENSP00000513475.1:p.Glu770Gln
ENST00000697907.1:c.*1400G>C	ENSP00000513476.1:n.*1400G>C
ENST00000697908.1:n.2236G>C
ENST00000697909.1:n.1434G>C
ENST00000697910.1:n.939G>C
ENST00000697911.1:n.848G>C
ENST00000357276.9:c.2542G>C MANE Select	ENSP00000349823.4:p.Glu848Gln
ENST00000357276.8:c.2542G>C	ENSP00000349823.4:p.Glu848Gln
ENST00000358207.9:c.2542G>C	ENSP00000350940.5:p.Glu848Gln
ENST00000392128.6:c.2068G>C	ENSP00000375974.2:p.Glu690Gln
NM_001127207.1:c.2542G>C	NP_001120679.1:p.Glu848Gln
NM_014140.3:c.2542G>C , LRG_108t1:c.2542G>C	NP_054859.2:p.Glu848Gln
XM_005246631.2:c.2542G>C	XP_005246688.1:p.Glu848Gln
XM_005246632.1:c.2542G>C	XP_005246689.1:p.Glu848Gln
XM_006712557.1:c.2476G>C	XP_006712620.1:p.Glu826Gln
XM_005246632.2:c.2542G>C	XP_005246689.1:p.Glu848Gln
XM_017004228.2:c.1630G>C	XP_016859717.1:p.Glu544Gln
NM_001127207.2:c.2542G>C	NP_001120679.1:p.Glu848Gln
NM_014140.4:c.2542G>C MANE Select	NP_054859.2:p.Glu848Gln