Canonical Allele Identifier: CA1327849189
Gene: SMARCAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216478223T= , CM000664.2:g.216478223T= GRCh38
NC_000002.11:g.217342946T= , CM000664.1:g.217342946T= GRCh37
NC_000002.10:g.217051191T= NCBI36
NG_009771.1:g.70810T= , LRG_108:g.70810T=

Transcript Alleles

HGVS Amino-acid change
ENST00000425815.6:c.2549T= ENSP00000394410.2:p.Ile850=
ENST00000430374.6:c.2549T= ENSP00000405077.2:p.Ile850=
ENST00000444508.6:c.2549T= ENSP00000398969.2:p.Ile850=
ENST00000697899.1:c.2315T= ENSP00000513470.1:p.Ile772=
ENST00000697901.1:c.*1304T= ENSP00000513471.1:n.*1304T=
ENST00000697903.1:c.*1036T= ENSP00000513472.1:n.*1036T=
ENST00000697904.1:c.*1036T= ENSP00000513473.1:n.*1036T=
ENST00000697905.1:c.*1036T= ENSP00000513474.1:n.*1036T=
ENST00000697906.1:c.2315T= ENSP00000513475.1:p.Ile772=
ENST00000697907.1:c.*1407T= ENSP00000513476.1:n.*1407T=
ENST00000697908.1:n.2243T=
ENST00000697909.1:n.1441T=
ENST00000697910.1:n.946T=
ENST00000697911.1:n.855T=
ENST00000357276.9:c.2549T= MANE Select ENSP00000349823.4:p.Ile850=
ENST00000357276.8:c.2549T= ENSP00000349823.4:p.Ile850=
ENST00000358207.9:c.2549T= ENSP00000350940.5:p.Ile850=
ENST00000392128.6:c.2075T= ENSP00000375974.2:p.Ile692=
NM_001127207.1:c.2549T= NP_001120679.1:p.Ile850=
NM_014140.3:c.2549T= , LRG_108t1:c.2549T= NP_054859.2:p.Ile850=
XM_005246631.2:c.2549T= XP_005246688.1:p.Ile850=
XM_005246632.1:c.2549T= XP_005246689.1:p.Ile850=
XM_006712557.1:c.2483T= XP_006712620.1:p.Ile828=
XM_005246632.2:c.2549T= XP_005246689.1:p.Ile850=
XM_017004228.2:c.1637T= XP_016859717.1:p.Ile546=
NM_001127207.2:c.2549T= NP_001120679.1:p.Ile850=
NM_014140.4:c.2549T= MANE Select NP_054859.2:p.Ile850=