Canonical Allele Identifier: CA516099221

Gene: CASK

Linked Data

• COSMIC: COSM79603
• MyVariant Identifiers: chrX:g.41390350G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531097G>A , CM000685.2:g.41531097G>A	GRCh38
NC_000023.10:g.41390350G>A , CM000685.1:g.41390350G>A	GRCh37
NC_000023.9:g.41275294G>A	NCBI36
NG_016754.1:g.396938C>T
NG_016754.2:g.396938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2379C>T	ENSP00000367396.2:p.Ser793=
ENST00000378158.6:c.2376C>T	ENSP00000367400.2:p.Ser792=
ENST00000378163.7:c.2430C>T MANE Select	ENSP00000367405.1:p.Ser810=
ENST00000378166.9:c.2328C>T	ENSP00000367408.5:p.Ser776=
ENST00000378168.8:c.2433C>T	ENSP00000367410.4:p.Ser811=
ENST00000378179.9:c.1050C>T	ENSP00000367421.4:p.Ser350=
ENST00000421587.8:c.2361C>T	ENSP00000400526.4:p.Ser787=
ENST00000442742.7:c.2292C>T	ENSP00000398007.3:p.Ser764=
ENST00000642499.1:n.1209C>T
ENST00000643733.1:c.202C>T
ENST00000644219.1:c.2412C>T	ENSP00000495357.1:p.Ser804=
ENST00000644347.1:c.2343C>T	ENSP00000494183.1:p.Ser781=
ENST00000645566.1:c.2415C>T	ENSP00000494788.1:p.Ser805=
ENST00000645937.2:n.2661C>T
ENST00000645986.2:c.2397C>T	ENSP00000494409.2:p.Ser799=
ENST00000646087.2:c.1752C>T	ENSP00000495510.2:p.Ser584=
ENST00000646120.2:c.2346C>T	ENSP00000495291.2:p.Ser782=
ENST00000675354.1:c.2364C>T	ENSP00000502315.1:p.Ser788=
ENST00000378158.5:c.2379C>T	ENSP00000367400.1:p.Ser793=
ENST00000378163.5:c.2430C>T	ENSP00000367405.1:p.Ser810=
ENST00000378166.8:c.2415C>T	ENSP00000367408.4:p.Ser805=
ENST00000378168.6:c.795C>T	ENSP00000367410.2:p.Ser265=
ENST00000378179.7:c.1206C>T	ENSP00000367421.3:p.Ser402=
ENST00000421587.6:c.2343C>T	ENSP00000400526.2:p.Ser781=
ENST00000442742.6:c.2346C>T	ENSP00000398007.2:p.Ser782=
NM_001126054.2:c.2346C>T	NP_001119526.1:p.Ser782=
NM_001126055.2:c.2343C>T	NP_001119527.1:p.Ser781=
NM_003688.3:c.2415C>T	NP_003679.2:p.Ser805=
XM_005272686.3:c.2412C>T	XP_005272743.1:p.Ser804=
XM_006724566.2:c.2307C>T	XP_006724629.1:p.Ser769=
XM_011543993.1:c.2430C>T	XP_011542295.1:p.Ser810=
XM_011543994.1:c.2394C>T	XP_011542296.1:p.Ser798=
XM_011543995.1:c.2361C>T	XP_011542297.1:p.Ser787=
XM_011543996.1:c.2325C>T	XP_011542298.1:p.Ser775=
XM_011543997.1:c.1857C>T	XP_011542299.1:p.Ser619=
XM_005272686.4:c.2412C>T	XP_005272743.1:p.Ser804=
XM_006724566.3:c.2307C>T	XP_006724629.1:p.Ser769=
XM_011543993.2:c.2430C>T	XP_011542295.1:p.Ser810=
XM_011543994.2:c.2394C>T	XP_011542296.1:p.Ser798=
XM_011543995.2:c.2361C>T	XP_011542297.1:p.Ser787=
XM_011543996.2:c.2325C>T	XP_011542298.1:p.Ser775=
XM_011543997.3:c.1857C>T	XP_011542299.1:p.Ser619=
XM_024452473.1:c.1752C>T	XP_024308241.1:p.Ser584=
NM_001367721.1:c.2430C>T MANE Select	NP_001354650.1:p.Ser810=