Canonical Allele Identifier: CA251012
Gene: CASK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41542805G>A , CM000685.2:g.41542805G>A GRCh38
NC_000023.10:g.41402058G>A , CM000685.1:g.41402058G>A GRCh37
NC_000023.9:g.41287002G>A NCBI36
NG_016754.1:g.385230C>T
NG_016754.2:g.385230C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001367721.1:c.2041C>T MANE Select NP_001354650.1:p.Arg681Ter
ENST00000378163.7:c.2041C>T MANE Select ENSP00000367405.1:p.Arg681Ter
NM_001126054.2:c.1972C>T NP_001119526.1:p.Arg658Ter
NM_001126055.2:c.1954C>T NP_001119527.1:p.Arg652Ter
NM_003688.3:c.2041C>T NP_003679.2:p.Arg681Ter
ENST00000378154.3:c.2005C>T ENSP00000367396.2:p.Arg669Ter
ENST00000378158.5:c.2005C>T ENSP00000367400.1:p.Arg669Ter
ENST00000378158.6:c.1987C>T ENSP00000367400.2:p.Arg663Ter
ENST00000378163.5:c.2041C>T ENSP00000367405.1:p.Arg681Ter
ENST00000378166.8:c.2041C>T ENSP00000367408.4:p.Arg681Ter
ENST00000378166.9:c.1954C>T ENSP00000367408.5:p.Arg652Ter
ENST00000378168.6:c.406C>T ENSP00000367410.2:p.Arg136Ter
ENST00000378168.8:c.2059C>T ENSP00000367410.4:p.Arg687Ter
ENST00000378179.7:c.817C>T ENSP00000367421.3:p.Arg273Ter
ENST00000378179.9:c.661C>T ENSP00000367421.4:p.Arg221Ter
ENST00000421587.6:c.1954C>T ENSP00000400526.2:p.Arg652Ter
ENST00000421587.8:c.1972C>T ENSP00000400526.4:p.Arg658Ter
ENST00000442742.6:c.1972C>T ENSP00000398007.2:p.Arg658Ter
ENST00000442742.7:c.1918C>T ENSP00000398007.3:p.Arg640Ter
ENST00000642499.1:n.835C>T
ENST00000644219.1:c.2023C>T ENSP00000495357.1:p.Arg675Ter
ENST00000644347.1:c.1954C>T ENSP00000494183.1:p.Arg652Ter
ENST00000645566.1:c.2041C>T ENSP00000494788.1:p.Arg681Ter
ENST00000645937.2:n.2272C>T
ENST00000645986.2:c.2023C>T ENSP00000494409.2:p.Arg675Ter
ENST00000646087.2:c.1363C>T ENSP00000495510.2:p.Arg455Ter
ENST00000646120.2:c.1972C>T ENSP00000495291.2:p.Arg658Ter
ENST00000675354.1:c.1990C>T ENSP00000502315.1:p.Arg664Ter
XM_005272686.3:c.2023C>T XP_005272743.1:p.Arg675Ter
XM_005272686.4:c.2023C>T XP_005272743.1:p.Arg675Ter
XM_006724566.2:c.1918C>T XP_006724629.1:p.Arg640Ter
XM_006724566.3:c.1918C>T XP_006724629.1:p.Arg640Ter
XM_011543993.1:c.2041C>T XP_011542295.1:p.Arg681Ter
XM_011543993.2:c.2041C>T XP_011542295.1:p.Arg681Ter
XM_011543994.1:c.2005C>T XP_011542296.1:p.Arg669Ter
XM_011543994.2:c.2005C>T XP_011542296.1:p.Arg669Ter
XM_011543995.1:c.1972C>T XP_011542297.1:p.Arg658Ter
XM_011543995.2:c.1972C>T XP_011542297.1:p.Arg658Ter
XM_011543996.1:c.1936C>T XP_011542298.1:p.Arg646Ter
XM_011543996.2:c.1936C>T XP_011542298.1:p.Arg646Ter
XM_011543997.1:c.1468C>T XP_011542299.1:p.Arg490Ter
XM_011543997.3:c.1468C>T XP_011542299.1:p.Arg490Ter
XM_024452473.1:c.1363C>T XP_024308241.1:p.Arg455Ter