Canonical Allele Identifier: CA2098300
Gene: SMARCAL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282214
dbSNP Id: rs200431186

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216482877T>C , CM000664.2:g.216482877T>C GRCh38
NC_000002.11:g.217347600T>C , CM000664.1:g.217347600T>C GRCh37
NC_000002.10:g.217055845T>C NCBI36
NG_009771.1:g.75464T>C , LRG_108:g.75464T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357276.9:c.2765T>C MANE Select ENSP00000349823.4:p.Met922Thr
ENST00000357276.8:c.2765T>C ENSP00000349823.4:p.Met922Thr
ENST00000358207.9:c.2765T>C ENSP00000350940.5:p.Met922Thr
ENST00000392128.6:n.2291T>C ENSP00000375974.2:p.Met764Thr
NM_001127207.1:c.2765T>C NP_001120679.1:p.Met922Thr
NM_014140.3:c.2765T>C , LRG_108t1:c.2765T>C NP_054859.2:p.Met922Thr
XM_005246631.2:c.2765T>C XP_005246688.1:p.Met922Thr
XM_005246632.1:c.2765T>C XP_005246689.1:p.Met922Thr
XM_006712557.1:c.2699T>C XP_006712620.1:p.Met900Thr
XM_005246632.2:c.2765T>C XP_005246689.1:p.Met922Thr
XM_017004228.2:c.1853T>C XP_016859717.1:p.Met618Thr
NM_001127207.2:c.2765T>C NP_001120679.1:p.Met922Thr
NM_014140.4:c.2765T>C MANE Select NP_054859.2:p.Met922Thr