Canonical Allele Identifier: CA1327850991
Gene: SMARCAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216482847C= , CM000664.2:g.216482847C= GRCh38
NC_000002.11:g.217347570C= , CM000664.1:g.217347570C= GRCh37
NC_000002.10:g.217055815C= NCBI36
NG_009771.1:g.75434C= , LRG_108:g.75434C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000425815.6:c.2735C= ENSP00000394410.2:p.Ser912=
ENST00000430374.6:c.2735C= ENSP00000405077.2:p.Ser912=
ENST00000444508.6:c.2735C= ENSP00000398969.2:p.Ser912=
ENST00000697899.1:c.2501C= ENSP00000513470.1:p.Ser834=
ENST00000697901.1:c.*1490C= ENSP00000513471.1:n.*1490C=
ENST00000697903.1:c.*1222C= ENSP00000513472.1:n.*1222C=
ENST00000697904.1:c.*1222C= ENSP00000513473.1:n.*1222C=
ENST00000697905.1:c.*1222C= ENSP00000513474.1:n.*1222C=
ENST00000697906.1:c.2501C= ENSP00000513475.1:p.Ser834=
ENST00000697907.1:c.*1593C= ENSP00000513476.1:n.*1593C=
ENST00000697909.1:n.1627C=
ENST00000697910.1:n.1132C=
ENST00000357276.9:c.2735C= MANE Select ENSP00000349823.4:p.Ser912=
ENST00000357276.8:c.2735C= ENSP00000349823.4:p.Ser912=
ENST00000358207.9:c.2735C= ENSP00000350940.5:p.Ser912=
ENST00000392128.6:c.2261C= ENSP00000375974.2:p.Ser754=
NM_001127207.1:c.2735C= NP_001120679.1:p.Ser912=
NM_014140.3:c.2735C= , LRG_108t1:c.2735C= NP_054859.2:p.Ser912=
XM_005246631.2:c.2735C= XP_005246688.1:p.Ser912=
XM_005246632.1:c.2735C= XP_005246689.1:p.Ser912=
XM_006712557.1:c.2669C= XP_006712620.1:p.Ser890=
XM_005246632.2:c.2735C= XP_005246689.1:p.Ser912=
XM_017004228.2:c.1823C= XP_016859717.1:p.Ser608=
NM_001127207.2:c.2735C= NP_001120679.1:p.Ser912=
NM_014140.4:c.2735C= MANE Select NP_054859.2:p.Ser912=