Canonical Allele Identifier: CA412994166

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41557048G>A , CM000685.2:g.41557048G>A	GRCh38
NC_000023.10:g.41416301G>A , CM000685.1:g.41416301G>A	GRCh37
NC_000023.9:g.41301245G>A	NCBI36
NG_016754.1:g.370987C>T
NG_016754.2:g.370987C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001367721.1:c.1790C>T MANE Select	NP_001354650.1:p.Thr597Ile
ENST00000378163.7:c.1790C>T MANE Select	ENSP00000367405.1:p.Thr597Ile
NM_001126054.2:c.1738-1413C>T	NP_001119526.1:n.1738-1413C>T
NM_001126055.2:c.1720-1413C>T	NP_001119527.1:n.1720-1413C>T
NM_003688.3:c.1790C>T	NP_003679.2:p.Thr597Ile
ENST00000378154.3:c.1790C>T	ENSP00000367396.2:p.Thr597Ile
ENST00000378158.5:c.1790C>T	ENSP00000367400.1:p.Thr597Ile
ENST00000378158.6:c.1772C>T	ENSP00000367400.2:p.Thr591Ile
ENST00000378163.5:c.1790C>T	ENSP00000367405.1:p.Thr597Ile
ENST00000378166.8:c.1790C>T	ENSP00000367408.4:p.Thr597Ile
ENST00000378166.9:c.1720-1413C>T	ENSP00000367408.5:n.1720-1413C>T
ENST00000378168.6:c.191C>T	ENSP00000367410.2:p.Thr64Ile
ENST00000378168.8:c.1808C>T	ENSP00000367410.4:p.Thr603Ile
ENST00000378179.7:c.583-1413C>T	ENSP00000367421.3:n.583-1413C>T
ENST00000378179.9:c.427-1413C>T	ENSP00000367421.4:n.427-1413C>T
ENST00000421587.6:c.1720-1413C>T	ENSP00000400526.2:n.1720-1413C>T
ENST00000421587.8:c.1738-1413C>T	ENSP00000400526.4:n.1738-1413C>T
ENST00000442742.6:c.1738-1413C>T	ENSP00000398007.2:n.1738-1413C>T
ENST00000442742.7:c.1719+2731C>T	ENSP00000398007.3:n.1719+2731C>T
ENST00000472704.1:n.349-1413C>T
ENST00000472704.3:n.349-1413C>T
ENST00000644219.1:c.1772C>T	ENSP00000495357.1:p.Thr591Ile
ENST00000644347.1:c.1720-1413C>T	ENSP00000494183.1:n.1720-1413C>T
ENST00000645566.1:c.1790C>T	ENSP00000494788.1:p.Thr597Ile
ENST00000645937.2:n.2038-1413C>T
ENST00000645986.2:c.1772C>T	ENSP00000494409.2:p.Thr591Ile
ENST00000646087.2:c.1164+2731C>T	ENSP00000495510.2:n.1164+2731C>T
ENST00000646120.2:c.1738-1413C>T	ENSP00000495291.2:n.1738-1413C>T
ENST00000675354.1:c.1756-1413C>T	ENSP00000502315.1:n.1756-1413C>T
XM_005272686.3:c.1772C>T	XP_005272743.1:p.Thr591Ile
XM_005272686.4:c.1772C>T	XP_005272743.1:p.Thr591Ile
XM_006724566.2:c.1719+2731C>T	XP_006724629.1:n.1719+2731C>T
XM_006724566.3:c.1719+2731C>T	XP_006724629.1:n.1719+2731C>T
XM_011543993.1:c.1790C>T	XP_011542295.1:p.Thr597Ile
XM_011543993.2:c.1790C>T	XP_011542295.1:p.Thr597Ile
XM_011543994.1:c.1790C>T	XP_011542296.1:p.Thr597Ile
XM_011543994.2:c.1790C>T	XP_011542296.1:p.Thr597Ile
XM_011543995.1:c.1738-1413C>T	XP_011542297.1:n.1738-1413C>T
XM_011543995.2:c.1738-1413C>T	XP_011542297.1:n.1738-1413C>T
XM_011543996.1:c.1737+2731C>T	XP_011542298.1:n.1737+2731C>T
XM_011543996.2:c.1737+2731C>T	XP_011542298.1:n.1737+2731C>T
XM_011543997.1:c.1217C>T	XP_011542299.1:p.Thr406Ile
XM_011543997.3:c.1217C>T	XP_011542299.1:p.Thr406Ile
XM_024452473.1:c.1164+2731C>T	XP_024308241.1:n.1164+2731C>T