Canonical Allele Identifier: CA412990241

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390351C>A (hg19) ; chrX:g.41531098C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531098C>A , CM000685.2:g.41531098C>A	GRCh38
NC_000023.10:g.41390351C>A , CM000685.1:g.41390351C>A	GRCh37
NC_000023.9:g.41275295C>A	NCBI36
NG_016754.1:g.396937G>T
NG_016754.2:g.396937G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2378G>T	ENSP00000367396.2:p.Ser793Ile
ENST00000378158.6:c.2375G>T	ENSP00000367400.2:p.Ser792Ile
ENST00000378163.7:c.2429G>T MANE Select	ENSP00000367405.1:p.Ser810Ile
ENST00000378166.9:c.2327G>T	ENSP00000367408.5:p.Ser776Ile
ENST00000378168.8:c.2432G>T	ENSP00000367410.4:p.Ser811Ile
ENST00000378179.9:c.1049G>T	ENSP00000367421.4:p.Ser350Ile
ENST00000421587.8:c.2360G>T	ENSP00000400526.4:p.Ser787Ile
ENST00000442742.7:c.2291G>T	ENSP00000398007.3:p.Ser764Ile
ENST00000642499.1:n.1208G>T
ENST00000643733.1:c.201G>T
ENST00000644219.1:c.2411G>T	ENSP00000495357.1:p.Ser804Ile
ENST00000644347.1:c.2342G>T	ENSP00000494183.1:p.Ser781Ile
ENST00000645566.1:c.2414G>T	ENSP00000494788.1:p.Ser805Ile
ENST00000645937.2:n.2660G>T
ENST00000645986.2:c.2396G>T	ENSP00000494409.2:p.Ser799Ile
ENST00000646087.2:c.1751G>T	ENSP00000495510.2:p.Ser584Ile
ENST00000646120.2:c.2345G>T	ENSP00000495291.2:p.Ser782Ile
ENST00000675354.1:c.2363G>T	ENSP00000502315.1:p.Ser788Ile
ENST00000378158.5:c.2378G>T	ENSP00000367400.1:p.Ser793Ile
ENST00000378163.5:c.2429G>T	ENSP00000367405.1:p.Ser810Ile
ENST00000378166.8:c.2414G>T	ENSP00000367408.4:p.Ser805Ile
ENST00000378168.6:c.794G>T	ENSP00000367410.2:p.Ser265Ile
ENST00000378179.7:c.1205G>T	ENSP00000367421.3:p.Ser402Ile
ENST00000421587.6:c.2342G>T	ENSP00000400526.2:p.Ser781Ile
ENST00000442742.6:c.2345G>T	ENSP00000398007.2:p.Ser782Ile
NM_001126054.2:c.2345G>T	NP_001119526.1:p.Ser782Ile
NM_001126055.2:c.2342G>T	NP_001119527.1:p.Ser781Ile
NM_003688.3:c.2414G>T	NP_003679.2:p.Ser805Ile
XM_005272686.3:c.2411G>T	XP_005272743.1:p.Ser804Ile
XM_006724566.2:c.2306G>T	XP_006724629.1:p.Ser769Ile
XM_011543993.1:c.2429G>T	XP_011542295.1:p.Ser810Ile
XM_011543994.1:c.2393G>T	XP_011542296.1:p.Ser798Ile
XM_011543995.1:c.2360G>T	XP_011542297.1:p.Ser787Ile
XM_011543996.1:c.2324G>T	XP_011542298.1:p.Ser775Ile
XM_011543997.1:c.1856G>T	XP_011542299.1:p.Ser619Ile
XM_005272686.4:c.2411G>T	XP_005272743.1:p.Ser804Ile
XM_006724566.3:c.2306G>T	XP_006724629.1:p.Ser769Ile
XM_011543993.2:c.2429G>T	XP_011542295.1:p.Ser810Ile
XM_011543994.2:c.2393G>T	XP_011542296.1:p.Ser798Ile
XM_011543995.2:c.2360G>T	XP_011542297.1:p.Ser787Ile
XM_011543996.2:c.2324G>T	XP_011542298.1:p.Ser775Ile
XM_011543997.3:c.1856G>T	XP_011542299.1:p.Ser619Ile
XM_024452473.1:c.1751G>T	XP_024308241.1:p.Ser584Ile
NM_001367721.1:c.2429G>T MANE Select	NP_001354650.1:p.Ser810Ile