Canonical Allele Identifier: CA431184107

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs1374217686
• gnomAD v3: 2-216450932-C-G
• gnomAD v4: 2-216450932-C-G
• MyVariant Identifiers: chr2:g.217315655C>G (hg19) ; chr2:g.216450932C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216450932C>G , CM000664.2:g.216450932C>G	GRCh38
NC_000002.11:g.217315655C>G , CM000664.1:g.217315655C>G	GRCh37
NC_000002.10:g.217023900C>G	NCBI36
NG_009771.1:g.43519C>G , LRG_108:g.43519C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1938C>G	ENSP00000394410.2:p.Leu646=
ENST00000430374.6:c.1938C>G	ENSP00000405077.2:p.Leu646=
ENST00000444508.6:c.1938C>G	ENSP00000398969.2:p.Leu646=
ENST00000486983.2:n.469C>G
ENST00000697898.1:n.2299C>G
ENST00000697899.1:c.1704C>G	ENSP00000513470.1:p.Leu568=
ENST00000697901.1:c.*796C>G	ENSP00000513471.1:n.*796C>G
ENST00000697902.1:n.2170C>G
ENST00000697903.1:c.*425C>G	ENSP00000513472.1:n.*425C>G
ENST00000697904.1:c.*425C>G	ENSP00000513473.1:n.*425C>G
ENST00000697905.1:c.*425C>G	ENSP00000513474.1:n.*425C>G
ENST00000697906.1:c.1704C>G	ENSP00000513475.1:p.Leu568=
ENST00000697907.1:c.*796C>G	ENSP00000513476.1:n.*796C>G
ENST00000697908.1:n.1735C>G
ENST00000697909.1:n.830C>G
ENST00000357276.9:c.1938C>G MANE Select	ENSP00000349823.4:p.Leu646=
ENST00000357276.8:c.1938C>G	ENSP00000349823.4:p.Leu646=
ENST00000358207.9:c.1938C>G	ENSP00000350940.5:p.Leu646=
ENST00000392128.6:c.1464C>G	ENSP00000375974.2:p.Leu488=
ENST00000486983.1:n.124C>G
NM_001127207.1:c.1938C>G	NP_001120679.1:p.Leu646=
NM_014140.3:c.1938C>G , LRG_108t1:c.1938C>G	NP_054859.2:p.Leu646=
XM_005246631.2:c.1938C>G	XP_005246688.1:p.Leu646=
XM_005246632.1:c.1938C>G	XP_005246689.1:p.Leu646=
XM_006712557.1:c.1872C>G	XP_006712620.1:p.Leu624=
XM_005246632.2:c.1938C>G	XP_005246689.1:p.Leu646=
XM_017004228.2:c.1026C>G	XP_016859717.1:p.Leu342=
NM_001127207.2:c.1938C>G	NP_001120679.1:p.Leu646=
NM_014140.4:c.1938C>G MANE Select	NP_054859.2:p.Leu646=