Canonical Allele Identifier: CA2097657
Gene: SMARCAL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 566403
ClinVar RCV Id: RCV000686205
dbSNP Id: rs750671325

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216415480T>C , CM000664.2:g.216415480T>C GRCh38
NC_000002.11:g.217280203T>C , CM000664.1:g.217280203T>C GRCh37
NC_000002.10:g.216988448T>C NCBI36
NG_009771.1:g.8067T>C , LRG_108:g.8067T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000425815.6:c.776T>C ENSP00000394410.2:p.Ile259Thr
ENST00000430374.6:c.776T>C ENSP00000405077.2:p.Ile259Thr
ENST00000444508.6:c.776T>C ENSP00000398969.2:p.Ile259Thr
ENST00000697898.1:n.1137T>C
ENST00000697899.1:c.776T>C ENSP00000513470.1:p.Ile259Thr
ENST00000697900.1:n.1052T>C
ENST00000697901.1:c.776T>C ENSP00000513471.1:p.Ile259Thr
ENST00000697902.1:n.1008T>C
ENST00000697903.1:c.776T>C ENSP00000513472.1:p.Ile259Thr
ENST00000697904.1:c.776T>C ENSP00000513473.1:p.Ile259Thr
ENST00000697905.1:c.776T>C ENSP00000513474.1:p.Ile259Thr
ENST00000697906.1:c.776T>C ENSP00000513475.1:p.Ile259Thr
ENST00000697907.1:c.776T>C ENSP00000513476.1:p.Ile259Thr
ENST00000357276.9:c.776T>C MANE Select ENSP00000349823.4:p.Ile259Thr
ENST00000357276.8:c.776T>C ENSP00000349823.4:p.Ile259Thr
ENST00000358207.9:c.776T>C ENSP00000350940.5:p.Ile259Thr
ENST00000392128.6:c.368T>C ENSP00000375974.2:p.Ile123Thr
ENST00000427645.5:c.473T>C ENSP00000392997.1:p.Ile158Thr
NM_001127207.1:c.776T>C NP_001120679.1:p.Ile259Thr
NM_014140.3:c.776T>C , LRG_108t1:c.776T>C NP_054859.2:p.Ile259Thr
XM_005246631.2:c.776T>C XP_005246688.1:p.Ile259Thr
XM_005246632.1:c.776T>C XP_005246689.1:p.Ile259Thr
XM_006712557.1:c.776T>C XP_006712620.1:p.Ile259Thr
XM_005246632.2:c.776T>C XP_005246689.1:p.Ile259Thr
XM_017004228.2:c.-141T>C XP_016859717.1:n.-141T>C
NM_001127207.2:c.776T>C NP_001120679.1:p.Ile259Thr
NM_014140.4:c.776T>C MANE Select NP_054859.2:p.Ile259Thr