Canonical Allele Identifier: CA431403189

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216483033-A-G
• MyVariant Identifiers: chr2:g.217347756A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216483033A>G , CM000664.2:g.216483033A>G	GRCh38
NC_000002.11:g.217347756A>G , CM000664.1:g.217347756A>G	GRCh37
NC_000002.10:g.217056001A>G	NCBI36
NG_009771.1:g.75620A>G , LRG_108:g.75620A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.*56A>G	ENSP00000394410.2:n.*56A>G
ENST00000430374.6:c.*56A>G	ENSP00000405077.2:n.*56A>G
ENST00000444508.6:c.*56A>G	ENSP00000398969.2:n.*56A>G
ENST00000697899.1:c.*56A>G	ENSP00000513470.1:n.*56A>G
ENST00000697903.1:c.*1408A>G	ENSP00000513472.1:n.*1408A>G
ENST00000697907.1:c.*1779A>G	ENSP00000513476.1:n.*1779A>G
ENST00000357276.9:c.*56A>G MANE Select	ENSP00000349823.4:n.*56A>G
ENST00000357276.8:c.*56A>G	ENSP00000349823.4:n.*56A>G
NM_001127207.1:c.*56A>G	NP_001120679.1:n.*56A>G
NM_014140.3:c.*56A>G , LRG_108t1:c.*56A>G	NP_054859.2:n.*56A>G
XM_005246631.2:c.*56A>G	XP_005246688.1:n.*56A>G
XM_005246632.1:c.*56A>G	XP_005246689.1:n.*56A>G
XM_006712557.1:c.*56A>G	XP_006712620.1:n.*56A>G
XM_005246632.2:c.*56A>G	XP_005246689.1:n.*56A>G
XM_017004228.2:c.*56A>G	XP_016859717.1:n.*56A>G
NM_001127207.2:c.*56A>G	NP_001120679.1:n.*56A>G
NM_014140.4:c.*56A>G MANE Select	NP_054859.2:n.*56A>G