Canonical Allele Identifier: CA412988717

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41379710G>C (hg19) ; chrX:g.41520457G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520457G>C , CM000685.2:g.41520457G>C	GRCh38
NC_000023.10:g.41379710G>C , CM000685.1:g.41379710G>C	GRCh37
NC_000023.9:g.41264654G>C	NCBI36
NG_016754.1:g.407578C>G
NG_016754.2:g.407578C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2693C>G	ENSP00000367396.2:p.Thr898Arg
ENST00000378158.6:c.2690C>G	ENSP00000367400.2:p.Thr897Arg
ENST00000378163.7:c.2744C>G MANE Select	ENSP00000367405.1:p.Thr915Arg
ENST00000378166.9:c.2642C>G	ENSP00000367408.5:p.Thr881Arg
ENST00000378168.8:c.2747C>G	ENSP00000367410.4:p.Thr916Arg
ENST00000378179.9:c.1364C>G	ENSP00000367421.4:p.Thr455Arg
ENST00000421587.8:c.2675C>G	ENSP00000400526.4:p.Thr892Arg
ENST00000442742.7:c.2606C>G	ENSP00000398007.3:p.Thr869Arg
ENST00000642499.1:n.1523C>G
ENST00000642641.1:n.903C>G
ENST00000643733.1:c.543C>G
ENST00000644219.1:c.2726C>G	ENSP00000495357.1:p.Thr909Arg
ENST00000644347.1:c.2657C>G	ENSP00000494183.1:p.Thr886Arg
ENST00000645566.1:c.2729C>G	ENSP00000494788.1:p.Thr910Arg
ENST00000645937.2:n.2975C>G
ENST00000645986.2:c.2831C>G	ENSP00000494409.2:p.Thr944Arg
ENST00000646087.2:c.2066C>G	ENSP00000495510.2:p.Thr689Arg
ENST00000646120.2:c.2660C>G	ENSP00000495291.2:p.Thr887Arg
ENST00000675354.1:c.2678C>G	ENSP00000502315.1:p.Thr893Arg
ENST00000378158.5:c.2693C>G	ENSP00000367400.1:p.Thr898Arg
ENST00000378163.5:c.2744C>G	ENSP00000367405.1:p.Thr915Arg
ENST00000378166.8:c.2729C>G	ENSP00000367408.4:p.Thr910Arg
ENST00000378168.6:c.1109C>G	ENSP00000367410.2:p.Thr370Arg
ENST00000378179.7:c.1520C>G	ENSP00000367421.3:p.Thr507Arg
ENST00000421587.6:c.2657C>G	ENSP00000400526.2:p.Thr886Arg
ENST00000442742.6:c.2660C>G	ENSP00000398007.2:p.Thr887Arg
NM_001126054.2:c.2660C>G	NP_001119526.1:p.Thr887Arg
NM_001126055.2:c.2657C>G	NP_001119527.1:p.Thr886Arg
NM_003688.3:c.2729C>G	NP_003679.2:p.Thr910Arg
XM_005272686.3:c.2726C>G	XP_005272743.1:p.Thr909Arg
XM_006724566.2:c.2621C>G	XP_006724629.1:p.Thr874Arg
XM_011543993.1:c.2744C>G	XP_011542295.1:p.Thr915Arg
XM_011543994.1:c.2708C>G	XP_011542296.1:p.Thr903Arg
XM_011543995.1:c.2675C>G	XP_011542297.1:p.Thr892Arg
XM_011543996.1:c.2639C>G	XP_011542298.1:p.Thr880Arg
XM_011543997.1:c.2171C>G	XP_011542299.1:p.Thr724Arg
XM_005272686.4:c.2726C>G	XP_005272743.1:p.Thr909Arg
XM_006724566.3:c.2621C>G	XP_006724629.1:p.Thr874Arg
XM_011543993.2:c.2744C>G	XP_011542295.1:p.Thr915Arg
XM_011543994.2:c.2708C>G	XP_011542296.1:p.Thr903Arg
XM_011543995.2:c.2675C>G	XP_011542297.1:p.Thr892Arg
XM_011543996.2:c.2639C>G	XP_011542298.1:p.Thr880Arg
XM_011543997.3:c.2171C>G	XP_011542299.1:p.Thr724Arg
XM_024452473.1:c.2066C>G	XP_024308241.1:p.Thr689Arg
NM_001367721.1:c.2744C>G MANE Select	NP_001354650.1:p.Thr915Arg