Canonical Allele Identifier: CA2097738

Gene: SMARCAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216420362G>A , CM000664.2:g.216420362G>A	GRCh38
NC_000002.11:g.217285085G>A , CM000664.1:g.217285085G>A	GRCh37
NC_000002.10:g.216993330G>A	NCBI36
NG_009771.1:g.12949G>A , LRG_108:g.12949G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014140.4:c.926G>A MANE Select	NP_054859.2:p.Ser309Asn
ENST00000357276.9:c.926G>A MANE Select	ENSP00000349823.4:p.Ser309Asn
NM_001127207.1:c.926G>A	NP_001120679.1:p.Ser309Asn
NM_001127207.2:c.926G>A	NP_001120679.1:p.Ser309Asn
NM_014140.3:c.926G>A , LRG_108t1:c.926G>A	NP_054859.2:p.Ser309Asn
ENST00000357276.8:c.926G>A	ENSP00000349823.4:p.Ser309Asn
ENST00000358207.9:c.926G>A	ENSP00000350940.5:p.Ser309Asn
ENST00000392128.6:c.518G>A	ENSP00000375974.2:p.Ser173Asn
ENST00000412913.1:c.86G>A	ENSP00000390248.1:p.Ser29Asn
ENST00000425815.6:c.926G>A	ENSP00000394410.2:p.Ser309Asn
ENST00000427645.5:c.623G>A	ENSP00000392997.1:p.Ser208Asn
ENST00000430374.6:c.926G>A	ENSP00000405077.2:p.Ser309Asn
ENST00000444508.6:c.926G>A	ENSP00000398969.2:p.Ser309Asn
ENST00000697898.1:n.1287G>A
ENST00000697899.1:c.863-3271G>A	ENSP00000513470.1:n.863-3271G>A
ENST00000697900.1:n.1202G>A
ENST00000697901.1:c.926G>A	ENSP00000513471.1:p.Ser309Asn
ENST00000697902.1:n.1158G>A
ENST00000697903.1:c.926G>A	ENSP00000513472.1:p.Ser309Asn
ENST00000697904.1:c.926G>A	ENSP00000513473.1:p.Ser309Asn
ENST00000697905.1:c.926G>A	ENSP00000513474.1:p.Ser309Asn
ENST00000697906.1:c.863-3271G>A	ENSP00000513475.1:n.863-3271G>A
ENST00000697907.1:c.926G>A	ENSP00000513476.1:p.Ser309Asn
XM_005246631.2:c.926G>A	XP_005246688.1:p.Ser309Asn
XM_005246632.1:c.926G>A	XP_005246689.1:p.Ser309Asn
XM_005246632.2:c.926G>A	XP_005246689.1:p.Ser309Asn
XM_006712557.1:c.926G>A	XP_006712620.1:p.Ser309Asn
XM_017004228.2:c.10G>A	XP_016859717.1:p.Ala4Thr