Canonical Allele Identifier: CA2098053

Gene: SMARCAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216450925G>A , CM000664.2:g.216450925G>A	GRCh38
NC_000002.11:g.217315648G>A , CM000664.1:g.217315648G>A	GRCh37
NC_000002.10:g.217023893G>A	NCBI36
NG_009771.1:g.43512G>A , LRG_108:g.43512G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014140.4:c.1931G>A MANE Select	NP_054859.2:p.Arg644Gln
ENST00000357276.9:c.1931G>A MANE Select	ENSP00000349823.4:p.Arg644Gln
NM_001127207.1:c.1931G>A	NP_001120679.1:p.Arg644Gln
NM_001127207.2:c.1931G>A	NP_001120679.1:p.Arg644Gln
NM_014140.3:c.1931G>A , LRG_108t1:c.1931G>A	NP_054859.2:p.Arg644Gln
ENST00000357276.8:c.1931G>A	ENSP00000349823.4:p.Arg644Gln
ENST00000358207.9:c.1931G>A	ENSP00000350940.5:p.Arg644Gln
ENST00000392128.6:c.1457G>A	ENSP00000375974.2:p.Arg486Gln
ENST00000425815.6:c.1931G>A	ENSP00000394410.2:p.Arg644Gln
ENST00000430374.6:c.1931G>A	ENSP00000405077.2:p.Arg644Gln
ENST00000444508.6:c.1931G>A	ENSP00000398969.2:p.Arg644Gln
ENST00000486983.1:n.117G>A
ENST00000486983.2:n.462G>A
ENST00000697898.1:n.2292G>A
ENST00000697899.1:c.1697G>A	ENSP00000513470.1:p.Arg566Gln
ENST00000697901.1:c.*789G>A	ENSP00000513471.1:n.*789G>A
ENST00000697902.1:n.2163G>A
ENST00000697903.1:c.*418G>A	ENSP00000513472.1:n.*418G>A
ENST00000697904.1:c.*418G>A	ENSP00000513473.1:n.*418G>A
ENST00000697905.1:c.*418G>A	ENSP00000513474.1:n.*418G>A
ENST00000697906.1:c.1697G>A	ENSP00000513475.1:p.Arg566Gln
ENST00000697907.1:c.*789G>A	ENSP00000513476.1:n.*789G>A
ENST00000697908.1:n.1728G>A
ENST00000697909.1:n.823G>A
XM_005246631.2:c.1931G>A	XP_005246688.1:p.Arg644Gln
XM_005246632.1:c.1931G>A	XP_005246689.1:p.Arg644Gln
XM_005246632.2:c.1931G>A	XP_005246689.1:p.Arg644Gln
XM_006712557.1:c.1865G>A	XP_006712620.1:p.Arg622Gln
XM_017004228.2:c.1019G>A	XP_016859717.1:p.Arg340Gln