Canonical Allele Identifier: CA412990221

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390346C>A (hg19) ; chrX:g.41531093C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531093C>A , CM000685.2:g.41531093C>A	GRCh38
NC_000023.10:g.41390346C>A , CM000685.1:g.41390346C>A	GRCh37
NC_000023.9:g.41275290C>A	NCBI36
NG_016754.1:g.396942G>T
NG_016754.2:g.396942G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2383G>T	ENSP00000367396.2:p.Glu795Ter
ENST00000378158.6:c.2380G>T	ENSP00000367400.2:p.Glu794Ter
ENST00000378163.7:c.2434G>T MANE Select	ENSP00000367405.1:p.Glu812Ter
ENST00000378166.9:c.2332G>T	ENSP00000367408.5:p.Glu778Ter
ENST00000378168.8:c.2437G>T	ENSP00000367410.4:p.Glu813Ter
ENST00000378179.9:c.1054G>T	ENSP00000367421.4:p.Glu352Ter
ENST00000421587.8:c.2365G>T	ENSP00000400526.4:p.Glu789Ter
ENST00000442742.7:c.2296G>T	ENSP00000398007.3:p.Glu766Ter
ENST00000642499.1:n.1213G>T
ENST00000643733.1:c.206G>T
ENST00000644219.1:c.2416G>T	ENSP00000495357.1:p.Glu806Ter
ENST00000644347.1:c.2347G>T	ENSP00000494183.1:p.Glu783Ter
ENST00000645566.1:c.2419G>T	ENSP00000494788.1:p.Glu807Ter
ENST00000645937.2:n.2665G>T
ENST00000645986.2:c.2401G>T	ENSP00000494409.2:p.Glu801Ter
ENST00000646087.2:c.1756G>T	ENSP00000495510.2:p.Glu586Ter
ENST00000646120.2:c.2350G>T	ENSP00000495291.2:p.Glu784Ter
ENST00000675354.1:c.2368G>T	ENSP00000502315.1:p.Glu790Ter
ENST00000378158.5:c.2383G>T	ENSP00000367400.1:p.Glu795Ter
ENST00000378163.5:c.2434G>T	ENSP00000367405.1:p.Glu812Ter
ENST00000378166.8:c.2419G>T	ENSP00000367408.4:p.Glu807Ter
ENST00000378168.6:c.799G>T	ENSP00000367410.2:p.Glu267Ter
ENST00000378179.7:c.1210G>T	ENSP00000367421.3:p.Glu404Ter
ENST00000421587.6:c.2347G>T	ENSP00000400526.2:p.Glu783Ter
ENST00000442742.6:c.2350G>T	ENSP00000398007.2:p.Glu784Ter
NM_001126054.2:c.2350G>T	NP_001119526.1:p.Glu784Ter
NM_001126055.2:c.2347G>T	NP_001119527.1:p.Glu783Ter
NM_003688.3:c.2419G>T	NP_003679.2:p.Glu807Ter
XM_005272686.3:c.2416G>T	XP_005272743.1:p.Glu806Ter
XM_006724566.2:c.2311G>T	XP_006724629.1:p.Glu771Ter
XM_011543993.1:c.2434G>T	XP_011542295.1:p.Glu812Ter
XM_011543994.1:c.2398G>T	XP_011542296.1:p.Glu800Ter
XM_011543995.1:c.2365G>T	XP_011542297.1:p.Glu789Ter
XM_011543996.1:c.2329G>T	XP_011542298.1:p.Glu777Ter
XM_011543997.1:c.1861G>T	XP_011542299.1:p.Glu621Ter
XM_005272686.4:c.2416G>T	XP_005272743.1:p.Glu806Ter
XM_006724566.3:c.2311G>T	XP_006724629.1:p.Glu771Ter
XM_011543993.2:c.2434G>T	XP_011542295.1:p.Glu812Ter
XM_011543994.2:c.2398G>T	XP_011542296.1:p.Glu800Ter
XM_011543995.2:c.2365G>T	XP_011542297.1:p.Glu789Ter
XM_011543996.2:c.2329G>T	XP_011542298.1:p.Glu777Ter
XM_011543997.3:c.1861G>T	XP_011542299.1:p.Glu621Ter
XM_024452473.1:c.1756G>T	XP_024308241.1:p.Glu586Ter
NM_001367721.1:c.2434G>T MANE Select	NP_001354650.1:p.Glu812Ter