Canonical Allele Identifier: CA2097812

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 334295
• ClinVar RCV Id: RCV000302549 ; RCV000594612 ; RCV003912407
• dbSNP Id: rs139872089
• ExAC: 2:217293367 C / T
• gnomAD v2: 2-217293367-C-T
• gnomAD v3: 2-216428644-C-T
• gnomAD v4: 2-216428644-C-T
• MyVariant Identifiers: chr2:g.217293367C>T (hg19) ; chr2:g.216428644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216428644C>T , CM000664.2:g.216428644C>T	GRCh38
NC_000002.11:g.217293367C>T , CM000664.1:g.217293367C>T	GRCh37
NC_000002.10:g.217001612C>T	NCBI36
NG_009771.1:g.21231C>T , LRG_108:g.21231C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1196C>T	ENSP00000394410.2:p.Thr399Met
ENST00000430374.6:c.1196C>T	ENSP00000405077.2:p.Thr399Met
ENST00000444508.6:c.1196C>T	ENSP00000398969.2:p.Thr399Met
ENST00000697898.1:n.1557C>T
ENST00000697899.1:c.962C>T	ENSP00000513470.1:p.Thr321Met
ENST00000697900.1:n.1472C>T
ENST00000697901.1:c.*54C>T	ENSP00000513471.1:n.*54C>T
ENST00000697902.1:n.1428C>T
ENST00000697903.1:c.1196C>T	ENSP00000513472.1:p.Thr399Met
ENST00000697904.1:c.1196C>T	ENSP00000513473.1:p.Thr399Met
ENST00000697905.1:c.1196C>T	ENSP00000513474.1:p.Thr399Met
ENST00000697906.1:c.962C>T	ENSP00000513475.1:p.Thr321Met
ENST00000697907.1:c.*54C>T	ENSP00000513476.1:n.*54C>T
ENST00000697908.1:n.993C>T
ENST00000357276.9:c.1196C>T MANE Select	ENSP00000349823.4:p.Thr399Met
ENST00000357276.8:c.1196C>T	ENSP00000349823.4:p.Thr399Met
ENST00000358207.9:c.1196C>T	ENSP00000350940.5:p.Thr399Met
ENST00000392128.6:c.788C>T	ENSP00000375974.2:p.Thr263Met
ENST00000412913.1:c.356C>T	ENSP00000390248.1:p.Thr119Met
ENST00000427645.5:c.842C>T	ENSP00000392997.1:p.Thr281Met
ENST00000479008.1:n.440C>T
NM_001127207.1:c.1196C>T	NP_001120679.1:p.Thr399Met
NM_014140.3:c.1196C>T , LRG_108t1:c.1196C>T	NP_054859.2:p.Thr399Met
XM_005246631.2:c.1196C>T	XP_005246688.1:p.Thr399Met
XM_005246632.1:c.1196C>T	XP_005246689.1:p.Thr399Met
XM_006712557.1:c.1196C>T	XP_006712620.1:p.Thr399Met
XM_005246632.2:c.1196C>T	XP_005246689.1:p.Thr399Met
XM_017004228.2:c.284C>T	XP_016859717.1:p.Thr95Met
NM_001127207.2:c.1196C>T	NP_001120679.1:p.Thr399Met
NM_014140.4:c.1196C>T MANE Select	NP_054859.2:p.Thr399Met