Canonical Allele Identifier: CA1327827206
Gene: SMARCAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216428726T= , CM000664.2:g.216428726T= GRCh38
NC_000002.11:g.217293449T= , CM000664.1:g.217293449T= GRCh37
NC_000002.10:g.217001694T= NCBI36
NG_009771.1:g.21313T= , LRG_108:g.21313T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000425815.6:c.1278T= ENSP00000394410.2:p.Ser426=
ENST00000430374.6:c.1278T= ENSP00000405077.2:p.Ser426=
ENST00000444508.6:c.1278T= ENSP00000398969.2:p.Ser426=
ENST00000697898.1:n.1639T=
ENST00000697899.1:c.1044T= ENSP00000513470.1:p.Ser348=
ENST00000697900.1:n.1554T=
ENST00000697901.1:c.*136T= ENSP00000513471.1:n.*136T=
ENST00000697902.1:n.1510T=
ENST00000697903.1:c.1278T= ENSP00000513472.1:p.Ser426=
ENST00000697904.1:c.1278T= ENSP00000513473.1:p.Ser426=
ENST00000697905.1:c.1278T= ENSP00000513474.1:p.Ser426=
ENST00000697906.1:c.1044T= ENSP00000513475.1:p.Ser348=
ENST00000697907.1:c.*136T= ENSP00000513476.1:n.*136T=
ENST00000697908.1:n.1075T=
ENST00000357276.9:c.1278T= MANE Select ENSP00000349823.4:p.Ser426=
ENST00000357276.8:c.1278T= ENSP00000349823.4:p.Ser426=
ENST00000358207.9:c.1278T= ENSP00000350940.5:p.Ser426=
ENST00000392128.6:c.870T= ENSP00000375974.2:p.Ser290=
ENST00000427645.5:c.924T= ENSP00000392997.1:p.Ser308=
ENST00000479008.1:n.522T=
NM_001127207.1:c.1278T= NP_001120679.1:p.Ser426=
NM_014140.3:c.1278T= , LRG_108t1:c.1278T= NP_054859.2:p.Ser426=
XM_005246631.2:c.1278T= XP_005246688.1:p.Ser426=
XM_005246632.1:c.1278T= XP_005246689.1:p.Ser426=
XM_006712557.1:c.1278T= XP_006712620.1:p.Ser426=
XM_005246632.2:c.1278T= XP_005246689.1:p.Ser426=
XM_017004228.2:c.366T= XP_016859717.1:p.Ser122=
NM_001127207.2:c.1278T= NP_001120679.1:p.Ser426=
NM_014140.4:c.1278T= MANE Select NP_054859.2:p.Ser426=