Canonical Allele Identifier: CA2097644
Gene: SMARCAL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 964662
ClinVar RCV Id: RCV001238928
dbSNP Id: rs375140716

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216415428G>A , CM000664.2:g.216415428G>A GRCh38
NC_000002.11:g.217280151G>A , CM000664.1:g.217280151G>A GRCh37
NC_000002.10:g.216988396G>A NCBI36
NG_009771.1:g.8015G>A , LRG_108:g.8015G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000425815.6:c.724G>A ENSP00000394410.2:p.Val242Ile
ENST00000430374.6:c.724G>A ENSP00000405077.2:p.Val242Ile
ENST00000444508.6:c.724G>A ENSP00000398969.2:p.Val242Ile
ENST00000697898.1:n.1085G>A
ENST00000697899.1:c.724G>A ENSP00000513470.1:p.Val242Ile
ENST00000697900.1:n.1000G>A
ENST00000697901.1:c.724G>A ENSP00000513471.1:p.Val242Ile
ENST00000697902.1:n.956G>A
ENST00000697903.1:c.724G>A ENSP00000513472.1:p.Val242Ile
ENST00000697904.1:c.724G>A ENSP00000513473.1:p.Val242Ile
ENST00000697905.1:c.724G>A ENSP00000513474.1:p.Val242Ile
ENST00000697906.1:c.724G>A ENSP00000513475.1:p.Val242Ile
ENST00000697907.1:c.724G>A ENSP00000513476.1:p.Val242Ile
ENST00000357276.9:c.724G>A MANE Select ENSP00000349823.4:p.Val242Ile
ENST00000357276.8:c.724G>A ENSP00000349823.4:p.Val242Ile
ENST00000358207.9:c.724G>A ENSP00000350940.5:p.Val242Ile
ENST00000392128.6:c.316G>A ENSP00000375974.2:p.Val106Ile
ENST00000427645.5:c.421G>A ENSP00000392997.1:p.Val141Ile
NM_001127207.1:c.724G>A NP_001120679.1:p.Val242Ile
NM_014140.3:c.724G>A , LRG_108t1:c.724G>A NP_054859.2:p.Val242Ile
XM_005246631.2:c.724G>A XP_005246688.1:p.Val242Ile
XM_005246632.1:c.724G>A XP_005246689.1:p.Val242Ile
XM_006712557.1:c.724G>A XP_006712620.1:p.Val242Ile
XM_005246632.2:c.724G>A XP_005246689.1:p.Val242Ile
XM_017004228.2:c.-193G>A XP_016859717.1:n.-193G>A
NM_001127207.2:c.724G>A NP_001120679.1:p.Val242Ile
NM_014140.4:c.724G>A MANE Select NP_054859.2:p.Val242Ile