Canonical Allele Identifier: CA350503893

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217339998C>A (hg19) ; chr2:g.216475275C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216475275C>A , CM000664.2:g.216475275C>A	GRCh38
NC_000002.11:g.217339998C>A , CM000664.1:g.217339998C>A	GRCh37
NC_000002.10:g.217048243C>A	NCBI36
NG_009771.1:g.67862C>A , LRG_108:g.67862C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2251C>A	ENSP00000394410.2:p.Gln751Lys
ENST00000430374.6:c.2251C>A	ENSP00000405077.2:p.Gln751Lys
ENST00000444508.6:c.2251C>A	ENSP00000398969.2:p.Gln751Lys
ENST00000697899.1:c.2017C>A	ENSP00000513470.1:p.Gln673Lys
ENST00000697901.1:c.*1006C>A	ENSP00000513471.1:n.*1006C>A
ENST00000697903.1:c.*738C>A	ENSP00000513472.1:n.*738C>A
ENST00000697904.1:c.*738C>A	ENSP00000513473.1:n.*738C>A
ENST00000697905.1:c.*738C>A	ENSP00000513474.1:n.*738C>A
ENST00000697906.1:c.2017C>A	ENSP00000513475.1:p.Gln673Lys
ENST00000697907.1:c.*1109C>A	ENSP00000513476.1:n.*1109C>A
ENST00000697908.1:n.1945C>A
ENST00000697909.1:n.1143C>A
ENST00000697910.1:n.648C>A
ENST00000697911.1:n.557C>A
ENST00000357276.9:c.2251C>A MANE Select	ENSP00000349823.4:p.Gln751Lys
ENST00000357276.8:c.2251C>A	ENSP00000349823.4:p.Gln751Lys
ENST00000358207.9:c.2251C>A	ENSP00000350940.5:p.Gln751Lys
ENST00000392128.6:c.1777C>A	ENSP00000375974.2:p.Gln593Lys
NM_001127207.1:c.2251C>A	NP_001120679.1:p.Gln751Lys
NM_014140.3:c.2251C>A , LRG_108t1:c.2251C>A	NP_054859.2:p.Gln751Lys
XM_005246631.2:c.2251C>A	XP_005246688.1:p.Gln751Lys
XM_005246632.1:c.2251C>A	XP_005246689.1:p.Gln751Lys
XM_006712557.1:c.2185C>A	XP_006712620.1:p.Gln729Lys
XM_005246632.2:c.2251C>A	XP_005246689.1:p.Gln751Lys
XM_017004228.2:c.1339C>A	XP_016859717.1:p.Gln447Lys
NM_001127207.2:c.2251C>A	NP_001120679.1:p.Gln751Lys
NM_014140.4:c.2251C>A MANE Select	NP_054859.2:p.Gln751Lys