Canonical Allele Identifier: CA2097658

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 1019138
• ClinVar RCV Id: RCV001318532
• dbSNP Id: rs754882213
• ExAC: 2:217280209 T / A
• gnomAD v2: 2-217280209-T-A
• gnomAD v3: 2-216415486-T-A
• gnomAD v4: 2-216415486-T-A
• MyVariant Identifiers: chr2:g.217280209T>A (hg19) ; chr2:g.216415486T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415486T>A , CM000664.2:g.216415486T>A	GRCh38
NC_000002.11:g.217280209T>A , CM000664.1:g.217280209T>A	GRCh37
NC_000002.10:g.216988454T>A	NCBI36
NG_009771.1:g.8073T>A , LRG_108:g.8073T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.782T>A	ENSP00000394410.2:p.Val261Glu
ENST00000430374.6:c.782T>A	ENSP00000405077.2:p.Val261Glu
ENST00000444508.6:c.782T>A	ENSP00000398969.2:p.Val261Glu
ENST00000697898.1:n.1143T>A
ENST00000697899.1:c.782T>A	ENSP00000513470.1:p.Val261Glu
ENST00000697900.1:n.1058T>A
ENST00000697901.1:c.782T>A	ENSP00000513471.1:p.Val261Glu
ENST00000697902.1:n.1014T>A
ENST00000697903.1:c.782T>A	ENSP00000513472.1:p.Val261Glu
ENST00000697904.1:c.782T>A	ENSP00000513473.1:p.Val261Glu
ENST00000697905.1:c.782T>A	ENSP00000513474.1:p.Val261Glu
ENST00000697906.1:c.782T>A	ENSP00000513475.1:p.Val261Glu
ENST00000697907.1:c.782T>A	ENSP00000513476.1:p.Val261Glu
ENST00000357276.9:c.782T>A MANE Select	ENSP00000349823.4:p.Val261Glu
ENST00000357276.8:c.782T>A	ENSP00000349823.4:p.Val261Glu
ENST00000358207.9:c.782T>A	ENSP00000350940.5:p.Val261Glu
ENST00000392128.6:c.374T>A	ENSP00000375974.2:p.Val125Glu
ENST00000427645.5:c.479T>A	ENSP00000392997.1:p.Val160Glu
NM_001127207.1:c.782T>A	NP_001120679.1:p.Val261Glu
NM_014140.3:c.782T>A , LRG_108t1:c.782T>A	NP_054859.2:p.Val261Glu
XM_005246631.2:c.782T>A	XP_005246688.1:p.Val261Glu
XM_005246632.1:c.782T>A	XP_005246689.1:p.Val261Glu
XM_006712557.1:c.782T>A	XP_006712620.1:p.Val261Glu
XM_005246632.2:c.782T>A	XP_005246689.1:p.Val261Glu
XM_017004228.2:c.-135T>A	XP_016859717.1:n.-135T>A
NM_001127207.2:c.782T>A	NP_001120679.1:p.Val261Glu
NM_014140.4:c.782T>A MANE Select	NP_054859.2:p.Val261Glu