Canonical Allele Identifier: CA16621400
Community Standard Title: NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)
Gene: CASK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41555605G>A , CM000685.2:g.41555605G>A GRCh38
NC_000023.10:g.41414858G>A , CM000685.1:g.41414858G>A GRCh37
NC_000023.9:g.41299802G>A NCBI36
NG_016754.1:g.372430C>T
NG_016754.2:g.372430C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001367721.1:c.1837C>T MANE Select NP_001354650.1:p.Arg613Ter
ENST00000378163.7:c.1837C>T MANE Select ENSP00000367405.1:p.Arg613Ter
NM_001126054.2:c.1768C>T NP_001119526.1:p.Arg590Ter
NM_001126055.2:c.1750C>T NP_001119527.1:p.Arg584Ter
NM_003688.3:c.1837C>T NP_003679.2:p.Arg613Ter
ENST00000378154.3:c.1806+1427C>T ENSP00000367396.2:n.1806+1427C>T
ENST00000378158.5:c.1806+1427C>T ENSP00000367400.1:n.1806+1427C>T
ENST00000378158.6:c.1788+1427C>T ENSP00000367400.2:n.1788+1427C>T
ENST00000378163.5:c.1837C>T ENSP00000367405.1:p.Arg613Ter
ENST00000378166.8:c.1837C>T ENSP00000367408.4:p.Arg613Ter
ENST00000378166.9:c.1750C>T ENSP00000367408.5:p.Arg584Ter
ENST00000378168.6:c.207+1427C>T ENSP00000367410.2:n.207+1427C>T
ENST00000378168.8:c.1855C>T ENSP00000367410.4:p.Arg619Ter
ENST00000378179.7:c.613C>T ENSP00000367421.3:p.Arg205Ter
ENST00000378179.9:c.457C>T ENSP00000367421.4:p.Arg153Ter
ENST00000421587.6:c.1750C>T ENSP00000400526.2:p.Arg584Ter
ENST00000421587.8:c.1768C>T ENSP00000400526.4:p.Arg590Ter
ENST00000442742.6:c.1768C>T ENSP00000398007.2:p.Arg590Ter
ENST00000442742.7:c.1720-1690C>T ENSP00000398007.3:n.1720-1690C>T
ENST00000472704.1:n.379C>T
ENST00000472704.3:n.379C>T
ENST00000642499.1:n.631C>T
ENST00000644219.1:c.1819C>T ENSP00000495357.1:p.Arg607Ter
ENST00000644347.1:c.1750C>T ENSP00000494183.1:p.Arg584Ter
ENST00000645566.1:c.1837C>T ENSP00000494788.1:p.Arg613Ter
ENST00000645937.2:n.2068C>T
ENST00000645986.2:c.1819C>T ENSP00000494409.2:p.Arg607Ter
ENST00000646087.2:c.1165-1690C>T ENSP00000495510.2:n.1165-1690C>T
ENST00000646120.2:c.1768C>T ENSP00000495291.2:p.Arg590Ter
ENST00000675354.1:c.1786C>T ENSP00000502315.1:p.Arg596Ter
XM_005272686.3:c.1819C>T XP_005272743.1:p.Arg607Ter
XM_005272686.4:c.1819C>T XP_005272743.1:p.Arg607Ter
XM_006724566.2:c.1720-1690C>T XP_006724629.1:n.1720-1690C>T
XM_006724566.3:c.1720-1690C>T XP_006724629.1:n.1720-1690C>T
XM_011543993.1:c.1837C>T XP_011542295.1:p.Arg613Ter
XM_011543993.2:c.1837C>T XP_011542295.1:p.Arg613Ter
XM_011543994.1:c.1806+1427C>T XP_011542296.1:n.1806+1427C>T
XM_011543994.2:c.1806+1427C>T XP_011542296.1:n.1806+1427C>T
XM_011543995.1:c.1768C>T XP_011542297.1:p.Arg590Ter
XM_011543995.2:c.1768C>T XP_011542297.1:p.Arg590Ter
XM_011543996.1:c.1738-1690C>T XP_011542298.1:n.1738-1690C>T
XM_011543996.2:c.1738-1690C>T XP_011542298.1:n.1738-1690C>T
XM_011543997.1:c.1264C>T XP_011542299.1:p.Arg422Ter
XM_011543997.3:c.1264C>T XP_011542299.1:p.Arg422Ter
XM_024452473.1:c.1165-1690C>T XP_024308241.1:n.1165-1690C>T