Canonical Allele Identifier: CA10588783
Community Standard Title: NM_001367721.1(CASK):c.2344G>T (p.Glu782Ter)
Gene: CASK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41531183C>A , CM000685.2:g.41531183C>A GRCh38
NC_000023.10:g.41390436C>A , CM000685.1:g.41390436C>A GRCh37
NC_000023.9:g.41275380C>A NCBI36
NG_016754.1:g.396852G>T
NG_016754.2:g.396852G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001367721.1:c.2344G>T MANE Select NP_001354650.1:p.Glu782Ter
ENST00000378163.7:c.2344G>T MANE Select ENSP00000367405.1:p.Glu782Ter
NM_001126054.2:c.2260G>T NP_001119526.1:p.Glu754Ter
NM_001126055.2:c.2257G>T NP_001119527.1:p.Glu753Ter
NM_003688.3:c.2329G>T NP_003679.2:p.Glu777Ter
ENST00000378154.3:c.2293G>T ENSP00000367396.2:p.Glu765Ter
ENST00000378158.5:c.2293G>T ENSP00000367400.1:p.Glu765Ter
ENST00000378158.6:c.2290G>T ENSP00000367400.2:p.Glu764Ter
ENST00000378163.5:c.2344G>T ENSP00000367405.1:p.Glu782Ter
ENST00000378166.8:c.2329G>T ENSP00000367408.4:p.Glu777Ter
ENST00000378166.9:c.2242G>T ENSP00000367408.5:p.Glu748Ter
ENST00000378168.6:c.709G>T ENSP00000367410.2:p.Glu237Ter
ENST00000378168.8:c.2347G>T ENSP00000367410.4:p.Glu783Ter
ENST00000378179.7:c.1120G>T ENSP00000367421.3:p.Glu374Ter
ENST00000378179.9:c.964G>T ENSP00000367421.4:p.Glu322Ter
ENST00000421587.6:c.2257G>T ENSP00000400526.2:p.Glu753Ter
ENST00000421587.8:c.2275G>T ENSP00000400526.4:p.Glu759Ter
ENST00000442742.6:c.2260G>T ENSP00000398007.2:p.Glu754Ter
ENST00000442742.7:c.2206G>T ENSP00000398007.3:p.Glu736Ter
ENST00000642499.1:n.1123G>T
ENST00000643733.1:c.116G>T
ENST00000644219.1:c.2326G>T ENSP00000495357.1:p.Glu776Ter
ENST00000644347.1:c.2257G>T ENSP00000494183.1:p.Glu753Ter
ENST00000645566.1:c.2329G>T ENSP00000494788.1:p.Glu777Ter
ENST00000645937.2:n.2575G>T
ENST00000645986.2:c.2311G>T ENSP00000494409.2:p.Glu771Ter
ENST00000646087.2:c.1666G>T ENSP00000495510.2:p.Glu556Ter
ENST00000646120.2:c.2260G>T ENSP00000495291.2:p.Glu754Ter
ENST00000675354.1:c.2278G>T ENSP00000502315.1:p.Glu760Ter
XM_005272686.3:c.2326G>T XP_005272743.1:p.Glu776Ter
XM_005272686.4:c.2326G>T XP_005272743.1:p.Glu776Ter
XM_006724566.2:c.2221G>T XP_006724629.1:p.Glu741Ter
XM_006724566.3:c.2221G>T XP_006724629.1:p.Glu741Ter
XM_011543993.1:c.2344G>T XP_011542295.1:p.Glu782Ter
XM_011543993.2:c.2344G>T XP_011542295.1:p.Glu782Ter
XM_011543994.1:c.2308G>T XP_011542296.1:p.Glu770Ter
XM_011543994.2:c.2308G>T XP_011542296.1:p.Glu770Ter
XM_011543995.1:c.2275G>T XP_011542297.1:p.Glu759Ter
XM_011543995.2:c.2275G>T XP_011542297.1:p.Glu759Ter
XM_011543996.1:c.2239G>T XP_011542298.1:p.Glu747Ter
XM_011543996.2:c.2239G>T XP_011542298.1:p.Glu747Ter
XM_011543997.1:c.1771G>T XP_011542299.1:p.Glu591Ter
XM_011543997.3:c.1771G>T XP_011542299.1:p.Glu591Ter
XM_024452473.1:c.1666G>T XP_024308241.1:p.Glu556Ter