Canonical Allele Identifier: CA2097964

Gene: SMARCAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216438471A>G , CM000664.2:g.216438471A>G	GRCh38
NC_000002.11:g.217303194A>G , CM000664.1:g.217303194A>G	GRCh37
NC_000002.10:g.217011439A>G	NCBI36
NG_009771.1:g.31058A>G , LRG_108:g.31058A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014140.4:c.1696A>G MANE Select	NP_054859.2:p.Met566Val
ENST00000357276.9:c.1696A>G MANE Select	ENSP00000349823.4:p.Met566Val
NM_001127207.1:c.1696A>G	NP_001120679.1:p.Met566Val
NM_001127207.2:c.1696A>G	NP_001120679.1:p.Met566Val
NM_014140.3:c.1696A>G , LRG_108t1:c.1696A>G	NP_054859.2:p.Met566Val
ENST00000357276.8:c.1696A>G	ENSP00000349823.4:p.Met566Val
ENST00000358207.9:c.1696A>G	ENSP00000350940.5:p.Met566Val
ENST00000392128.6:c.1236+2975A>G	ENSP00000375974.2:n.1236+2975A>G
ENST00000425815.6:c.1696A>G	ENSP00000394410.2:p.Met566Val
ENST00000430374.6:c.1696A>G	ENSP00000405077.2:p.Met566Val
ENST00000444508.6:c.1696A>G	ENSP00000398969.2:p.Met566Val
ENST00000445153.1:c.369A>G
ENST00000697898.1:n.2057A>G
ENST00000697899.1:c.1462A>G	ENSP00000513470.1:p.Met488Val
ENST00000697901.1:c.*554A>G	ENSP00000513471.1:n.*554A>G
ENST00000697902.1:n.1928A>G
ENST00000697903.1:c.*183A>G	ENSP00000513472.1:n.*183A>G
ENST00000697904.1:c.*183A>G	ENSP00000513473.1:n.*183A>G
ENST00000697905.1:c.*183A>G	ENSP00000513474.1:n.*183A>G
ENST00000697906.1:c.1462A>G	ENSP00000513475.1:p.Met488Val
ENST00000697907.1:c.*554A>G	ENSP00000513476.1:n.*554A>G
ENST00000697908.1:n.1493A>G
ENST00000697909.1:n.588A>G
XM_005246631.2:c.1696A>G	XP_005246688.1:p.Met566Val
XM_005246632.1:c.1696A>G	XP_005246689.1:p.Met566Val
XM_005246632.2:c.1696A>G	XP_005246689.1:p.Met566Val
XM_006712557.1:c.1644+2975A>G	XP_006712620.1:n.1644+2975A>G
XM_017004228.2:c.784A>G	XP_016859717.1:p.Met262Val