Canonical Allele Identifier: CA431168680

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217340030A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216475307A>G , CM000664.2:g.216475307A>G	GRCh38
NC_000002.11:g.217340030A>G , CM000664.1:g.217340030A>G	GRCh37
NC_000002.10:g.217048275A>G	NCBI36
NG_009771.1:g.67894A>G , LRG_108:g.67894A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2283A>G	ENSP00000394410.2:p.Ser761=
ENST00000430374.6:c.2283A>G	ENSP00000405077.2:p.Ser761=
ENST00000444508.6:c.2283A>G	ENSP00000398969.2:p.Ser761=
ENST00000697899.1:c.2049A>G	ENSP00000513470.1:p.Ser683=
ENST00000697901.1:c.*1038A>G	ENSP00000513471.1:n.*1038A>G
ENST00000697903.1:c.*770A>G	ENSP00000513472.1:n.*770A>G
ENST00000697904.1:c.*770A>G	ENSP00000513473.1:n.*770A>G
ENST00000697905.1:c.*770A>G	ENSP00000513474.1:n.*770A>G
ENST00000697906.1:c.2049A>G	ENSP00000513475.1:p.Ser683=
ENST00000697907.1:c.*1141A>G	ENSP00000513476.1:n.*1141A>G
ENST00000697908.1:n.1977A>G
ENST00000697909.1:n.1175A>G
ENST00000697910.1:n.680A>G
ENST00000697911.1:n.589A>G
ENST00000357276.9:c.2283A>G MANE Select	ENSP00000349823.4:p.Ser761=
ENST00000357276.8:c.2283A>G	ENSP00000349823.4:p.Ser761=
ENST00000358207.9:c.2283A>G	ENSP00000350940.5:p.Ser761=
ENST00000392128.6:c.1809A>G	ENSP00000375974.2:p.Ser603=
NM_001127207.1:c.2283A>G	NP_001120679.1:p.Ser761=
NM_014140.3:c.2283A>G , LRG_108t1:c.2283A>G	NP_054859.2:p.Ser761=
XM_005246631.2:c.2283A>G	XP_005246688.1:p.Ser761=
XM_005246632.1:c.2283A>G	XP_005246689.1:p.Ser761=
XM_006712557.1:c.2217A>G	XP_006712620.1:p.Ser739=
XM_005246632.2:c.2283A>G	XP_005246689.1:p.Ser761=
XM_017004228.2:c.1371A>G	XP_016859717.1:p.Ser457=
NM_001127207.2:c.2283A>G	NP_001120679.1:p.Ser761=
NM_014140.4:c.2283A>G MANE Select	NP_054859.2:p.Ser761=