Canonical Allele Identifier: CA431173776
Gene: SMARCAL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.217293351C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216428628C>T , CM000664.2:g.216428628C>T GRCh38
NC_000002.11:g.217293351C>T , CM000664.1:g.217293351C>T GRCh37
NC_000002.10:g.217001596C>T NCBI36
NG_009771.1:g.21215C>T , LRG_108:g.21215C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000425815.6:c.1180C>T ENSP00000394410.2:p.Leu394=
ENST00000430374.6:c.1180C>T ENSP00000405077.2:p.Leu394=
ENST00000444508.6:c.1180C>T ENSP00000398969.2:p.Leu394=
ENST00000697898.1:n.1541C>T
ENST00000697899.1:c.946C>T ENSP00000513470.1:p.Leu316=
ENST00000697900.1:n.1456C>T
ENST00000697901.1:c.*38C>T ENSP00000513471.1:n.*38C>T
ENST00000697902.1:n.1412C>T
ENST00000697903.1:c.1180C>T ENSP00000513472.1:p.Leu394=
ENST00000697904.1:c.1180C>T ENSP00000513473.1:p.Leu394=
ENST00000697905.1:c.1180C>T ENSP00000513474.1:p.Leu394=
ENST00000697906.1:c.946C>T ENSP00000513475.1:p.Leu316=
ENST00000697907.1:c.*38C>T ENSP00000513476.1:n.*38C>T
ENST00000697908.1:n.977C>T
ENST00000357276.9:c.1180C>T MANE Select ENSP00000349823.4:p.Leu394=
ENST00000357276.8:c.1180C>T ENSP00000349823.4:p.Leu394=
ENST00000358207.9:c.1180C>T ENSP00000350940.5:p.Leu394=
ENST00000392128.6:c.772C>T ENSP00000375974.2:p.Leu258=
ENST00000412913.1:c.340C>T ENSP00000390248.1:p.Leu114=
ENST00000427645.5:c.826C>T ENSP00000392997.1:p.Leu276=
ENST00000479008.1:n.424C>T
NM_001127207.1:c.1180C>T NP_001120679.1:p.Leu394=
NM_014140.3:c.1180C>T , LRG_108t1:c.1180C>T NP_054859.2:p.Leu394=
XM_005246631.2:c.1180C>T XP_005246688.1:p.Leu394=
XM_005246632.1:c.1180C>T XP_005246689.1:p.Leu394=
XM_006712557.1:c.1180C>T XP_006712620.1:p.Leu394=
XM_005246632.2:c.1180C>T XP_005246689.1:p.Leu394=
XM_017004228.2:c.268C>T XP_016859717.1:p.Leu90=
NM_001127207.2:c.1180C>T NP_001120679.1:p.Leu394=
NM_014140.4:c.1180C>T MANE Select NP_054859.2:p.Leu394=