Canonical Allele Identifier: CA2097827

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 652582
• ClinVar RCV Id: RCV000808161
• dbSNP Id: rs374696042
• ExAC: 2:217293468 G / A
• gnomAD v2: 2-217293468-G-A
• gnomAD v3: 2-216428745-G-A
• gnomAD v4: 2-216428745-G-A
• MyVariant Identifiers: chr2:g.217293468G>A (hg19) ; chr2:g.216428745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216428745G>A , CM000664.2:g.216428745G>A	GRCh38
NC_000002.11:g.217293468G>A , CM000664.1:g.217293468G>A	GRCh37
NC_000002.10:g.217001713G>A	NCBI36
NG_009771.1:g.21332G>A , LRG_108:g.21332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.1297G>A	ENSP00000394410.2:p.Val433Met
ENST00000430374.6:c.1297G>A	ENSP00000405077.2:p.Val433Met
ENST00000444508.6:c.1297G>A	ENSP00000398969.2:p.Val433Met
ENST00000697898.1:n.1658G>A
ENST00000697899.1:c.1063G>A	ENSP00000513470.1:p.Val355Met
ENST00000697900.1:n.1573G>A
ENST00000697901.1:c.*155G>A	ENSP00000513471.1:n.*155G>A
ENST00000697902.1:n.1529G>A
ENST00000697903.1:c.1297G>A	ENSP00000513472.1:p.Val433Met
ENST00000697904.1:c.1297G>A	ENSP00000513473.1:p.Val433Met
ENST00000697905.1:c.1297G>A	ENSP00000513474.1:p.Val433Met
ENST00000697906.1:c.1063G>A	ENSP00000513475.1:p.Val355Met
ENST00000697907.1:c.*155G>A	ENSP00000513476.1:n.*155G>A
ENST00000697908.1:n.1094G>A
ENST00000357276.9:c.1297G>A MANE Select	ENSP00000349823.4:p.Val433Met
ENST00000357276.8:c.1297G>A	ENSP00000349823.4:p.Val433Met
ENST00000358207.9:c.1297G>A	ENSP00000350940.5:p.Val433Met
ENST00000392128.6:c.889G>A	ENSP00000375974.2:p.Val297Met
ENST00000427645.5:c.943G>A	ENSP00000392997.1:p.Val315Met
ENST00000479008.1:n.541G>A
NM_001127207.1:c.1297G>A	NP_001120679.1:p.Val433Met
NM_014140.3:c.1297G>A , LRG_108t1:c.1297G>A	NP_054859.2:p.Val433Met
XM_005246631.2:c.1297G>A	XP_005246688.1:p.Val433Met
XM_005246632.1:c.1297G>A	XP_005246689.1:p.Val433Met
XM_006712557.1:c.1297G>A	XP_006712620.1:p.Val433Met
XM_005246632.2:c.1297G>A	XP_005246689.1:p.Val433Met
XM_017004228.2:c.385G>A	XP_016859717.1:p.Val129Met
NM_001127207.2:c.1297G>A	NP_001120679.1:p.Val433Met
NM_014140.4:c.1297G>A MANE Select	NP_054859.2:p.Val433Met