Canonical Allele Identifier: CA350503964

Gene: SMARCAL1

Linked Data

• MyVariant Identifiers: chr2:g.217340032C>A (hg19) ; chr2:g.216475309C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216475309C>A , CM000664.2:g.216475309C>A	GRCh38
NC_000002.11:g.217340032C>A , CM000664.1:g.217340032C>A	GRCh37
NC_000002.10:g.217048277C>A	NCBI36
NG_009771.1:g.67896C>A , LRG_108:g.67896C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2285C>A	ENSP00000394410.2:p.Ala762Asp
ENST00000430374.6:c.2285C>A	ENSP00000405077.2:p.Ala762Asp
ENST00000444508.6:c.2285C>A	ENSP00000398969.2:p.Ala762Asp
ENST00000697899.1:c.2051C>A	ENSP00000513470.1:p.Ala684Asp
ENST00000697901.1:c.*1040C>A	ENSP00000513471.1:n.*1040C>A
ENST00000697903.1:c.*772C>A	ENSP00000513472.1:n.*772C>A
ENST00000697904.1:c.*772C>A	ENSP00000513473.1:n.*772C>A
ENST00000697905.1:c.*772C>A	ENSP00000513474.1:n.*772C>A
ENST00000697906.1:c.2051C>A	ENSP00000513475.1:p.Ala684Asp
ENST00000697907.1:c.*1143C>A	ENSP00000513476.1:n.*1143C>A
ENST00000697908.1:n.1979C>A
ENST00000697909.1:n.1177C>A
ENST00000697910.1:n.682C>A
ENST00000697911.1:n.591C>A
ENST00000357276.9:c.2285C>A MANE Select	ENSP00000349823.4:p.Ala762Asp
ENST00000357276.8:c.2285C>A	ENSP00000349823.4:p.Ala762Asp
ENST00000358207.9:c.2285C>A	ENSP00000350940.5:p.Ala762Asp
ENST00000392128.6:c.1811C>A	ENSP00000375974.2:p.Ala604Asp
NM_001127207.1:c.2285C>A	NP_001120679.1:p.Ala762Asp
NM_014140.3:c.2285C>A , LRG_108t1:c.2285C>A	NP_054859.2:p.Ala762Asp
XM_005246631.2:c.2285C>A	XP_005246688.1:p.Ala762Asp
XM_005246632.1:c.2285C>A	XP_005246689.1:p.Ala762Asp
XM_006712557.1:c.2219C>A	XP_006712620.1:p.Ala740Asp
XM_005246632.2:c.2285C>A	XP_005246689.1:p.Ala762Asp
XM_017004228.2:c.1373C>A	XP_016859717.1:p.Ala458Asp
NM_001127207.2:c.2285C>A	NP_001120679.1:p.Ala762Asp
NM_014140.4:c.2285C>A MANE Select	NP_054859.2:p.Ala762Asp