Canonical Allele Identifier: CA431402516

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 1128249
• ClinVar RCV Id: RCV001460976
• dbSNP Id: rs1693571801
• gnomAD v3: 2-216415370-C-T
• gnomAD v4: 2-216415370-C-T
• MyVariant Identifiers: chr2:g.217280093C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415370C>T , CM000664.2:g.216415370C>T	GRCh38
NC_000002.11:g.217280093C>T , CM000664.1:g.217280093C>T	GRCh37
NC_000002.10:g.216988338C>T	NCBI36
NG_009771.1:g.7957C>T , LRG_108:g.7957C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.666C>T	ENSP00000394410.2:p.Leu222=
ENST00000430374.6:c.666C>T	ENSP00000405077.2:p.Leu222=
ENST00000444508.6:c.666C>T	ENSP00000398969.2:p.Leu222=
ENST00000697898.1:n.1027C>T
ENST00000697899.1:c.666C>T	ENSP00000513470.1:p.Leu222=
ENST00000697900.1:n.942C>T
ENST00000697901.1:c.666C>T	ENSP00000513471.1:p.Leu222=
ENST00000697902.1:n.898C>T
ENST00000697903.1:c.666C>T	ENSP00000513472.1:p.Leu222=
ENST00000697904.1:c.666C>T	ENSP00000513473.1:p.Leu222=
ENST00000697905.1:c.666C>T	ENSP00000513474.1:p.Leu222=
ENST00000697906.1:c.666C>T	ENSP00000513475.1:p.Leu222=
ENST00000697907.1:c.666C>T	ENSP00000513476.1:p.Leu222=
ENST00000357276.9:c.666C>T MANE Select	ENSP00000349823.4:p.Leu222=
ENST00000357276.8:c.666C>T	ENSP00000349823.4:p.Leu222=
ENST00000358207.9:c.666C>T	ENSP00000350940.5:p.Leu222=
ENST00000392128.6:c.258C>T	ENSP00000375974.2:p.Leu86=
ENST00000427645.5:c.363C>T	ENSP00000392997.1:p.Leu121=
NM_001127207.1:c.666C>T	NP_001120679.1:p.Leu222=
NM_014140.3:c.666C>T , LRG_108t1:c.666C>T	NP_054859.2:p.Leu222=
XM_005246631.2:c.666C>T	XP_005246688.1:p.Leu222=
XM_005246632.1:c.666C>T	XP_005246689.1:p.Leu222=
XM_006712557.1:c.666C>T	XP_006712620.1:p.Leu222=
XM_005246632.2:c.666C>T	XP_005246689.1:p.Leu222=
XM_017004228.2:c.-251C>T	XP_016859717.1:n.-251C>T
NM_001127207.2:c.666C>T	NP_001120679.1:p.Leu222=
NM_014140.4:c.666C>T MANE Select	NP_054859.2:p.Leu222=