Canonical Allele Identifier: CA350504978

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 496639
• ClinVar RCV Id: RCV000590927
• dbSNP Id: rs1553535161
• gnomAD v3: 2-216478244-G-A
• gnomAD v4: 2-216478244-G-A
• MyVariant Identifiers: chr2:g.217342967G>A (hg19) ; chr2:g.216478244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216478244G>A , CM000664.2:g.216478244G>A	GRCh38
NC_000002.11:g.217342967G>A , CM000664.1:g.217342967G>A	GRCh37
NC_000002.10:g.217051212G>A	NCBI36
NG_009771.1:g.70831G>A , LRG_108:g.70831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2570G>A	ENSP00000394410.2:p.Gly857Glu
ENST00000430374.6:c.2570G>A	ENSP00000405077.2:p.Gly857Glu
ENST00000444508.6:c.2570G>A	ENSP00000398969.2:p.Gly857Glu
ENST00000697899.1:c.2336G>A	ENSP00000513470.1:p.Gly779Glu
ENST00000697901.1:c.*1325G>A	ENSP00000513471.1:n.*1325G>A
ENST00000697903.1:c.*1057G>A	ENSP00000513472.1:n.*1057G>A
ENST00000697904.1:c.*1057G>A	ENSP00000513473.1:n.*1057G>A
ENST00000697905.1:c.*1057G>A	ENSP00000513474.1:n.*1057G>A
ENST00000697906.1:c.2336G>A	ENSP00000513475.1:p.Gly779Glu
ENST00000697907.1:c.*1428G>A	ENSP00000513476.1:n.*1428G>A
ENST00000697908.1:n.2264G>A
ENST00000697909.1:n.1462G>A
ENST00000697910.1:n.967G>A
ENST00000697911.1:n.876G>A
ENST00000357276.9:c.2570G>A MANE Select	ENSP00000349823.4:p.Gly857Glu
ENST00000357276.8:c.2570G>A	ENSP00000349823.4:p.Gly857Glu
ENST00000358207.9:c.2570G>A	ENSP00000350940.5:p.Gly857Glu
ENST00000392128.6:c.2096G>A	ENSP00000375974.2:p.Gly699Glu
NM_001127207.1:c.2570G>A	NP_001120679.1:p.Gly857Glu
NM_014140.3:c.2570G>A , LRG_108t1:c.2570G>A	NP_054859.2:p.Gly857Glu
XM_005246631.2:c.2570G>A	XP_005246688.1:p.Gly857Glu
XM_005246632.1:c.2570G>A	XP_005246689.1:p.Gly857Glu
XM_006712557.1:c.2504G>A	XP_006712620.1:p.Gly835Glu
XM_005246632.2:c.2570G>A	XP_005246689.1:p.Gly857Glu
XM_017004228.2:c.1658G>A	XP_016859717.1:p.Gly553Glu
NM_001127207.2:c.2570G>A	NP_001120679.1:p.Gly857Glu
NM_014140.4:c.2570G>A MANE Select	NP_054859.2:p.Gly857Glu