Canonical Allele Identifier: CA350501913

Gene: SMARCAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216450854G>A , CM000664.2:g.216450854G>A	GRCh38
NC_000002.11:g.217315577G>A , CM000664.1:g.217315577G>A	GRCh37
NC_000002.10:g.217023822G>A	NCBI36
NG_009771.1:g.43441G>A , LRG_108:g.43441G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014140.4:c.1860G>A MANE Select	NP_054859.2:p.Trp620Ter
ENST00000357276.9:c.1860G>A MANE Select	ENSP00000349823.4:p.Trp620Ter
NM_001127207.1:c.1860G>A	NP_001120679.1:p.Trp620Ter
NM_001127207.2:c.1860G>A	NP_001120679.1:p.Trp620Ter
NM_014140.3:c.1860G>A , LRG_108t1:c.1860G>A	NP_054859.2:p.Trp620Ter
ENST00000357276.8:c.1860G>A	ENSP00000349823.4:p.Trp620Ter
ENST00000358207.9:c.1860G>A	ENSP00000350940.5:p.Trp620Ter
ENST00000392128.6:c.1386G>A	ENSP00000375974.2:p.Trp462Ter
ENST00000425815.6:c.1860G>A	ENSP00000394410.2:p.Trp620Ter
ENST00000430374.6:c.1860G>A	ENSP00000405077.2:p.Trp620Ter
ENST00000444508.6:c.1860G>A	ENSP00000398969.2:p.Trp620Ter
ENST00000486983.1:n.46G>A
ENST00000486983.2:n.391G>A
ENST00000697898.1:n.2221G>A
ENST00000697899.1:c.1626G>A	ENSP00000513470.1:p.Trp542Ter
ENST00000697901.1:c.*718G>A	ENSP00000513471.1:n.*718G>A
ENST00000697902.1:n.2092G>A
ENST00000697903.1:c.*347G>A	ENSP00000513472.1:n.*347G>A
ENST00000697904.1:c.*347G>A	ENSP00000513473.1:n.*347G>A
ENST00000697905.1:c.*347G>A	ENSP00000513474.1:n.*347G>A
ENST00000697906.1:c.1626G>A	ENSP00000513475.1:p.Trp542Ter
ENST00000697907.1:c.*718G>A	ENSP00000513476.1:n.*718G>A
ENST00000697908.1:n.1657G>A
ENST00000697909.1:n.752G>A
XM_005246631.2:c.1860G>A	XP_005246688.1:p.Trp620Ter
XM_005246632.1:c.1860G>A	XP_005246689.1:p.Trp620Ter
XM_005246632.2:c.1860G>A	XP_005246689.1:p.Trp620Ter
XM_006712557.1:c.1794G>A	XP_006712620.1:p.Trp598Ter
XM_017004228.2:c.948G>A	XP_016859717.1:p.Trp316Ter