Canonical Allele Identifier: CA764711779

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs1411015030
• gnomAD v4: 2-216450835-G-T
• MyVariant Identifiers: chr2:g.217315558G>T (hg19) ; chr2:g.216450835G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216450835G>T , CM000664.2:g.216450835G>T	GRCh38
NC_000002.11:g.217315558G>T , CM000664.1:g.217315558G>T	GRCh37
NC_000002.10:g.217023803G>T	NCBI36
NG_009771.1:g.43422G>T , LRG_108:g.43422G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1852-11G>T	ENSP00000394410.2:n.1852-11G>T
ENST00000430374.6:c.1852-11G>T	ENSP00000405077.2:n.1852-11G>T
ENST00000444508.6:c.1852-11G>T	ENSP00000398969.2:n.1852-11G>T
ENST00000486983.2:n.383-11G>T
ENST00000697898.1:n.2213-11G>T
ENST00000697899.1:c.1618-11G>T	ENSP00000513470.1:n.1618-11G>T
ENST00000697901.1:c.*710-11G>T	ENSP00000513471.1:n.*710-11G>T
ENST00000697902.1:n.2084-11G>T
ENST00000697903.1:c.*339-11G>T	ENSP00000513472.1:n.*339-11G>T
ENST00000697904.1:c.*339-11G>T	ENSP00000513473.1:n.*339-11G>T
ENST00000697905.1:c.*339-11G>T	ENSP00000513474.1:n.*339-11G>T
ENST00000697906.1:c.1618-11G>T	ENSP00000513475.1:n.1618-11G>T
ENST00000697907.1:c.*710-11G>T	ENSP00000513476.1:n.*710-11G>T
ENST00000697908.1:n.1649-11G>T
ENST00000697909.1:n.744-11G>T
ENST00000357276.9:c.1852-11G>T MANE Select	ENSP00000349823.4:n.1852-11G>T
ENST00000357276.8:c.1852-11G>T	ENSP00000349823.4:n.1852-11G>T
ENST00000358207.9:c.1852-11G>T	ENSP00000350940.5:n.1852-11G>T
ENST00000392128.6:c.1378-11G>T	ENSP00000375974.2:n.1378-11G>T
ENST00000486983.1:n.38-11G>T
NM_001127207.1:c.1852-11G>T	NP_001120679.1:n.1852-11G>T
NM_014140.3:c.1852-11G>T , LRG_108t1:c.1852-11G>T	NP_054859.2:n.1852-11G>T
XM_005246631.2:c.1852-11G>T	XP_005246688.1:n.1852-11G>T
XM_005246632.1:c.1852-11G>T	XP_005246689.1:n.1852-11G>T
XM_006712557.1:c.1786-11G>T	XP_006712620.1:n.1786-11G>T
XM_005246632.2:c.1852-11G>T	XP_005246689.1:n.1852-11G>T
XM_017004228.2:c.940-11G>T	XP_016859717.1:n.940-11G>T
NM_001127207.2:c.1852-11G>T	NP_001120679.1:n.1852-11G>T
NM_014140.4:c.1852-11G>T MANE Select	NP_054859.2:n.1852-11G>T