Canonical Allele Identifier: CA1327821446
Gene: SMARCAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216415301T= , CM000664.2:g.216415301T= GRCh38
NC_000002.11:g.217280024T= , CM000664.1:g.217280024T= GRCh37
NC_000002.10:g.216988269T= NCBI36
NG_009771.1:g.7888T= , LRG_108:g.7888T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000425815.6:c.597T= ENSP00000394410.2:p.Pro199=
ENST00000430374.6:c.597T= ENSP00000405077.2:p.Pro199=
ENST00000444508.6:c.597T= ENSP00000398969.2:p.Pro199=
ENST00000697898.1:n.958T=
ENST00000697899.1:c.597T= ENSP00000513470.1:p.Pro199=
ENST00000697900.1:n.873T=
ENST00000697901.1:c.597T= ENSP00000513471.1:p.Pro199=
ENST00000697902.1:n.829T=
ENST00000697903.1:c.597T= ENSP00000513472.1:p.Pro199=
ENST00000697904.1:c.597T= ENSP00000513473.1:p.Pro199=
ENST00000697905.1:c.597T= ENSP00000513474.1:p.Pro199=
ENST00000697906.1:c.597T= ENSP00000513475.1:p.Pro199=
ENST00000697907.1:c.597T= ENSP00000513476.1:p.Pro199=
ENST00000357276.9:c.597T= MANE Select ENSP00000349823.4:p.Pro199=
ENST00000357276.8:c.597T= ENSP00000349823.4:p.Pro199=
ENST00000358207.9:c.597T= ENSP00000350940.5:p.Pro199=
ENST00000392128.6:c.189T= ENSP00000375974.2:p.Pro63=
ENST00000427645.5:c.294T= ENSP00000392997.1:p.Pro98=
NM_001127207.1:c.597T= NP_001120679.1:p.Pro199=
NM_014140.3:c.597T= , LRG_108t1:c.597T= NP_054859.2:p.Pro199=
XM_005246631.2:c.597T= XP_005246688.1:p.Pro199=
XM_005246632.1:c.597T= XP_005246689.1:p.Pro199=
XM_006712557.1:c.597T= XP_006712620.1:p.Pro199=
XM_005246632.2:c.597T= XP_005246689.1:p.Pro199=
XM_017004228.2:c.-320T= XP_016859717.1:n.-320T=
NM_001127207.2:c.597T= NP_001120679.1:p.Pro199=
NM_014140.4:c.597T= MANE Select NP_054859.2:p.Pro199=