Canonical Allele Identifier: CA253026

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 4174
• ClinVar RCV Id: RCV000004391
• dbSNP Id: rs119473036
• MyVariant Identifiers: chr2:g.217300218T>A (hg19) ; chr2:g.216435495T>A (hg38)
• PubMed: PMID:11799392

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216435495T>A , CM000664.2:g.216435495T>A	GRCh38
NC_000002.11:g.217300218T>A , CM000664.1:g.217300218T>A	GRCh37
NC_000002.10:g.217008463T>A	NCBI36
NG_009771.1:g.28082T>A , LRG_108:g.28082T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.1643T>A	ENSP00000394410.2:p.Ile548Asn
ENST00000430374.6:c.1643T>A	ENSP00000405077.2:p.Ile548Asn
ENST00000444508.6:c.1643T>A	ENSP00000398969.2:p.Ile548Asn
ENST00000697898.1:n.2004T>A
ENST00000697899.1:c.1409T>A	ENSP00000513470.1:p.Ile470Asn
ENST00000697900.1:n.1768T>A
ENST00000697901.1:c.*501T>A	ENSP00000513471.1:n.*501T>A
ENST00000697902.1:n.1875T>A
ENST00000697903.1:c.*130T>A	ENSP00000513472.1:n.*130T>A
ENST00000697904.1:c.*130T>A	ENSP00000513473.1:n.*130T>A
ENST00000697905.1:c.*130T>A	ENSP00000513474.1:n.*130T>A
ENST00000697906.1:c.1409T>A	ENSP00000513475.1:p.Ile470Asn
ENST00000697907.1:c.*501T>A	ENSP00000513476.1:n.*501T>A
ENST00000697908.1:n.1440T>A
ENST00000697909.1:n.535T>A
ENST00000357276.9:c.1643T>A MANE Select	ENSP00000349823.4:p.Ile548Asn
ENST00000357276.8:c.1643T>A	ENSP00000349823.4:p.Ile548Asn
ENST00000358207.9:c.1643T>A	ENSP00000350940.5:p.Ile548Asn
ENST00000392128.6:c.1235T>A	ENSP00000375974.2:p.Ile412Asn
ENST00000445153.1:c.316T>A
NM_001127207.1:c.1643T>A	NP_001120679.1:p.Ile548Asn
NM_014140.3:c.1643T>A , LRG_108t1:c.1643T>A	NP_054859.2:p.Ile548Asn
XM_005246631.2:c.1643T>A	XP_005246688.1:p.Ile548Asn
XM_005246632.1:c.1643T>A	XP_005246689.1:p.Ile548Asn
XM_006712557.1:c.1643T>A	XP_006712620.1:p.Ile548Asn
XM_005246632.2:c.1643T>A	XP_005246689.1:p.Ile548Asn
XM_017004228.2:c.731T>A	XP_016859717.1:p.Ile244Asn
NM_001127207.2:c.1643T>A	NP_001120679.1:p.Ile548Asn
NM_014140.4:c.1643T>A MANE Select	NP_054859.2:p.Ile548Asn