Canonical Allele Identifier: CA65618376

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs972728406
• gnomAD v4: 2-216475299-A-G
• MyVariant Identifiers: chr2:g.217340022A>G (hg19) ; chr2:g.216475299A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216475299A>G , CM000664.2:g.216475299A>G	GRCh38
NC_000002.11:g.217340022A>G , CM000664.1:g.217340022A>G	GRCh37
NC_000002.10:g.217048267A>G	NCBI36
NG_009771.1:g.67886A>G , LRG_108:g.67886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2275A>G	ENSP00000394410.2:p.Thr759Ala
ENST00000430374.6:c.2275A>G	ENSP00000405077.2:p.Thr759Ala
ENST00000444508.6:c.2275A>G	ENSP00000398969.2:p.Thr759Ala
ENST00000697899.1:c.2041A>G	ENSP00000513470.1:p.Thr681Ala
ENST00000697901.1:c.*1030A>G	ENSP00000513471.1:n.*1030A>G
ENST00000697903.1:c.*762A>G	ENSP00000513472.1:n.*762A>G
ENST00000697904.1:c.*762A>G	ENSP00000513473.1:n.*762A>G
ENST00000697905.1:c.*762A>G	ENSP00000513474.1:n.*762A>G
ENST00000697906.1:c.2041A>G	ENSP00000513475.1:p.Thr681Ala
ENST00000697907.1:c.*1133A>G	ENSP00000513476.1:n.*1133A>G
ENST00000697908.1:n.1969A>G
ENST00000697909.1:n.1167A>G
ENST00000697910.1:n.672A>G
ENST00000697911.1:n.581A>G
ENST00000357276.9:c.2275A>G MANE Select	ENSP00000349823.4:p.Thr759Ala
ENST00000357276.8:c.2275A>G	ENSP00000349823.4:p.Thr759Ala
ENST00000358207.9:c.2275A>G	ENSP00000350940.5:p.Thr759Ala
ENST00000392128.6:c.1801A>G	ENSP00000375974.2:p.Thr601Ala
NM_001127207.1:c.2275A>G	NP_001120679.1:p.Thr759Ala
NM_014140.3:c.2275A>G , LRG_108t1:c.2275A>G	NP_054859.2:p.Thr759Ala
XM_005246631.2:c.2275A>G	XP_005246688.1:p.Thr759Ala
XM_005246632.1:c.2275A>G	XP_005246689.1:p.Thr759Ala
XM_006712557.1:c.2209A>G	XP_006712620.1:p.Thr737Ala
XM_005246632.2:c.2275A>G	XP_005246689.1:p.Thr759Ala
XM_017004228.2:c.1363A>G	XP_016859717.1:p.Thr455Ala
NM_001127207.2:c.2275A>G	NP_001120679.1:p.Thr759Ala
NM_014140.4:c.2275A>G MANE Select	NP_054859.2:p.Thr759Ala