Canonical Allele Identifier: CA350503901

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217340001C>G (hg19) ; chr2:g.216475278C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216475278C>G , CM000664.2:g.216475278C>G	GRCh38
NC_000002.11:g.217340001C>G , CM000664.1:g.217340001C>G	GRCh37
NC_000002.10:g.217048246C>G	NCBI36
NG_009771.1:g.67865C>G , LRG_108:g.67865C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2254C>G	ENSP00000394410.2:p.His752Asp
ENST00000430374.6:c.2254C>G	ENSP00000405077.2:p.His752Asp
ENST00000444508.6:c.2254C>G	ENSP00000398969.2:p.His752Asp
ENST00000697899.1:c.2020C>G	ENSP00000513470.1:p.His674Asp
ENST00000697901.1:c.*1009C>G	ENSP00000513471.1:n.*1009C>G
ENST00000697903.1:c.*741C>G	ENSP00000513472.1:n.*741C>G
ENST00000697904.1:c.*741C>G	ENSP00000513473.1:n.*741C>G
ENST00000697905.1:c.*741C>G	ENSP00000513474.1:n.*741C>G
ENST00000697906.1:c.2020C>G	ENSP00000513475.1:p.His674Asp
ENST00000697907.1:c.*1112C>G	ENSP00000513476.1:n.*1112C>G
ENST00000697908.1:n.1948C>G
ENST00000697909.1:n.1146C>G
ENST00000697910.1:n.651C>G
ENST00000697911.1:n.560C>G
ENST00000357276.9:c.2254C>G MANE Select	ENSP00000349823.4:p.His752Asp
ENST00000357276.8:c.2254C>G	ENSP00000349823.4:p.His752Asp
ENST00000358207.9:c.2254C>G	ENSP00000350940.5:p.His752Asp
ENST00000392128.6:c.1780C>G	ENSP00000375974.2:p.His594Asp
NM_001127207.1:c.2254C>G	NP_001120679.1:p.His752Asp
NM_014140.3:c.2254C>G , LRG_108t1:c.2254C>G	NP_054859.2:p.His752Asp
XM_005246631.2:c.2254C>G	XP_005246688.1:p.His752Asp
XM_005246632.1:c.2254C>G	XP_005246689.1:p.His752Asp
XM_006712557.1:c.2188C>G	XP_006712620.1:p.His730Asp
XM_005246632.2:c.2254C>G	XP_005246689.1:p.His752Asp
XM_017004228.2:c.1342C>G	XP_016859717.1:p.His448Asp
NM_001127207.2:c.2254C>G	NP_001120679.1:p.His752Asp
NM_014140.4:c.2254C>G MANE Select	NP_054859.2:p.His752Asp