Canonical Allele Identifier: CA16043385
Gene: SMARCAL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374208
dbSNP Id: rs748106387

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216415427C>A , CM000664.2:g.216415427C>A GRCh38
NC_000002.11:g.217280150C>A , CM000664.1:g.217280150C>A GRCh37
NC_000002.10:g.216988395C>A NCBI36
NG_009771.1:g.8014C>A , LRG_108:g.8014C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357276.9:c.723C>A MANE Select ENSP00000349823.4:p.Cys241Ter
ENST00000357276.8:c.723C>A ENSP00000349823.4:p.Cys241Ter
ENST00000358207.9:c.723C>A ENSP00000350940.5:p.Cys241Ter
ENST00000392128.6:n.315C>A ENSP00000375974.2:p.Cys105Ter
ENST00000427645.5:n.420C>A ENSP00000392997.1:p.Cys140Ter
NM_001127207.1:c.723C>A NP_001120679.1:p.Cys241Ter
NM_014140.3:c.723C>A , LRG_108t1:c.723C>A NP_054859.2:p.Cys241Ter
XM_005246631.2:c.723C>A XP_005246688.1:p.Cys241Ter
XM_005246632.1:c.723C>A XP_005246689.1:p.Cys241Ter
XM_006712557.1:c.723C>A XP_006712620.1:p.Cys241Ter
XM_005246632.2:c.723C>A XP_005246689.1:p.Cys241Ter
XM_017004228.2:c.-194C>A XP_016859717.1:p.=
NM_001127207.2:c.723C>A NP_001120679.1:p.Cys241Ter
NM_014140.4:c.723C>A MANE Select NP_054859.2:p.Cys241Ter