Canonical Allele Identifier: CA412989966

Gene: CASK

Linked Data

• COSMIC: COSM6363212 ; COSM6363213
• MyVariant Identifiers: chrX:g.41390277G>T (hg19) ; chrX:g.41531024G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531024G>T , CM000685.2:g.41531024G>T	GRCh38
NC_000023.10:g.41390277G>T , CM000685.1:g.41390277G>T	GRCh37
NC_000023.9:g.41275221G>T	NCBI36
NG_016754.1:g.397011C>A
NG_016754.2:g.397011C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2452C>A	ENSP00000367396.2:p.Leu818Met
ENST00000378158.6:c.2449C>A	ENSP00000367400.2:p.Leu817Met
ENST00000378163.7:c.2503C>A MANE Select	ENSP00000367405.1:p.Leu835Met
ENST00000378166.9:c.2401C>A	ENSP00000367408.5:p.Leu801Met
ENST00000378168.8:c.2506C>A	ENSP00000367410.4:p.Leu836Met
ENST00000378179.9:c.1123C>A	ENSP00000367421.4:p.Leu375Met
ENST00000421587.8:c.2434C>A	ENSP00000400526.4:p.Leu812Met
ENST00000442742.7:c.2365C>A	ENSP00000398007.3:p.Leu789Met
ENST00000642499.1:n.1282C>A
ENST00000643733.1:c.275C>A
ENST00000644219.1:c.2485C>A	ENSP00000495357.1:p.Leu829Met
ENST00000644347.1:c.2416C>A	ENSP00000494183.1:p.Leu806Met
ENST00000645566.1:c.2488C>A	ENSP00000494788.1:p.Leu830Met
ENST00000645937.2:n.2734C>A
ENST00000645986.2:c.2470C>A	ENSP00000494409.2:p.Leu824Met
ENST00000646087.2:c.1825C>A	ENSP00000495510.2:p.Leu609Met
ENST00000646120.2:c.2419C>A	ENSP00000495291.2:p.Leu807Met
ENST00000675354.1:c.2437C>A	ENSP00000502315.1:p.Leu813Met
ENST00000378158.5:c.2452C>A	ENSP00000367400.1:p.Leu818Met
ENST00000378163.5:c.2503C>A	ENSP00000367405.1:p.Leu835Met
ENST00000378166.8:c.2488C>A	ENSP00000367408.4:p.Leu830Met
ENST00000378168.6:c.868C>A	ENSP00000367410.2:p.Leu290Met
ENST00000378179.7:c.1279C>A	ENSP00000367421.3:p.Leu427Met
ENST00000421587.6:c.2416C>A	ENSP00000400526.2:p.Leu806Met
ENST00000442742.6:c.2419C>A	ENSP00000398007.2:p.Leu807Met
NM_001126054.2:c.2419C>A	NP_001119526.1:p.Leu807Met
NM_001126055.2:c.2416C>A	NP_001119527.1:p.Leu806Met
NM_003688.3:c.2488C>A	NP_003679.2:p.Leu830Met
XM_005272686.3:c.2485C>A	XP_005272743.1:p.Leu829Met
XM_006724566.2:c.2380C>A	XP_006724629.1:p.Leu794Met
XM_011543993.1:c.2503C>A	XP_011542295.1:p.Leu835Met
XM_011543994.1:c.2467C>A	XP_011542296.1:p.Leu823Met
XM_011543995.1:c.2434C>A	XP_011542297.1:p.Leu812Met
XM_011543996.1:c.2398C>A	XP_011542298.1:p.Leu800Met
XM_011543997.1:c.1930C>A	XP_011542299.1:p.Leu644Met
XM_005272686.4:c.2485C>A	XP_005272743.1:p.Leu829Met
XM_006724566.3:c.2380C>A	XP_006724629.1:p.Leu794Met
XM_011543993.2:c.2503C>A	XP_011542295.1:p.Leu835Met
XM_011543994.2:c.2467C>A	XP_011542296.1:p.Leu823Met
XM_011543995.2:c.2434C>A	XP_011542297.1:p.Leu812Met
XM_011543996.2:c.2398C>A	XP_011542298.1:p.Leu800Met
XM_011543997.3:c.1930C>A	XP_011542299.1:p.Leu644Met
XM_024452473.1:c.1825C>A	XP_024308241.1:p.Leu609Met
NM_001367721.1:c.2503C>A MANE Select	NP_001354650.1:p.Leu835Met