Canonical Allele Identifier: CA1327849190
Gene: SMARCAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216478228G= , CM000664.2:g.216478228G= GRCh38
NC_000002.11:g.217342951G= , CM000664.1:g.217342951G= GRCh37
NC_000002.10:g.217051196G= NCBI36
NG_009771.1:g.70815G= , LRG_108:g.70815G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000425815.6:c.2554G= ENSP00000394410.2:p.Val852=
ENST00000430374.6:c.2554G= ENSP00000405077.2:p.Val852=
ENST00000444508.6:c.2554G= ENSP00000398969.2:p.Val852=
ENST00000697899.1:c.2320G= ENSP00000513470.1:p.Val774=
ENST00000697901.1:c.*1309G= ENSP00000513471.1:n.*1309G=
ENST00000697903.1:c.*1041G= ENSP00000513472.1:n.*1041G=
ENST00000697904.1:c.*1041G= ENSP00000513473.1:n.*1041G=
ENST00000697905.1:c.*1041G= ENSP00000513474.1:n.*1041G=
ENST00000697906.1:c.2320G= ENSP00000513475.1:p.Val774=
ENST00000697907.1:c.*1412G= ENSP00000513476.1:n.*1412G=
ENST00000697908.1:n.2248G=
ENST00000697909.1:n.1446G=
ENST00000697910.1:n.951G=
ENST00000697911.1:n.860G=
ENST00000357276.9:c.2554G= MANE Select ENSP00000349823.4:p.Val852=
ENST00000357276.8:c.2554G= ENSP00000349823.4:p.Val852=
ENST00000358207.9:c.2554G= ENSP00000350940.5:p.Val852=
ENST00000392128.6:c.2080G= ENSP00000375974.2:p.Val694=
NM_001127207.1:c.2554G= NP_001120679.1:p.Val852=
NM_014140.3:c.2554G= , LRG_108t1:c.2554G= NP_054859.2:p.Val852=
XM_005246631.2:c.2554G= XP_005246688.1:p.Val852=
XM_005246632.1:c.2554G= XP_005246689.1:p.Val852=
XM_006712557.1:c.2488G= XP_006712620.1:p.Val830=
XM_005246632.2:c.2554G= XP_005246689.1:p.Val852=
XM_017004228.2:c.1642G= XP_016859717.1:p.Val548=
NM_001127207.2:c.2554G= NP_001120679.1:p.Val852=
NM_014140.4:c.2554G= MANE Select NP_054859.2:p.Val852=