Canonical Allele Identifier: CA412988709

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41379705G>T (hg19) ; chrX:g.41520452G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520452G>T , CM000685.2:g.41520452G>T	GRCh38
NC_000023.10:g.41379705G>T , CM000685.1:g.41379705G>T	GRCh37
NC_000023.9:g.41264649G>T	NCBI36
NG_016754.1:g.407583C>A
NG_016754.2:g.407583C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2698C>A	ENSP00000367396.2:p.Pro900Thr
ENST00000378158.6:c.2695C>A	ENSP00000367400.2:p.Pro899Thr
ENST00000378163.7:c.2749C>A MANE Select	ENSP00000367405.1:p.Pro917Thr
ENST00000378166.9:c.2647C>A	ENSP00000367408.5:p.Pro883Thr
ENST00000378168.8:c.2752C>A	ENSP00000367410.4:p.Pro918Thr
ENST00000378179.9:c.1369C>A	ENSP00000367421.4:p.Pro457Thr
ENST00000421587.8:c.2680C>A	ENSP00000400526.4:p.Pro894Thr
ENST00000442742.7:c.2611C>A	ENSP00000398007.3:p.Pro871Thr
ENST00000642499.1:n.1528C>A
ENST00000642641.1:n.908C>A
ENST00000643733.1:c.548C>A
ENST00000644219.1:c.2731C>A	ENSP00000495357.1:p.Pro911Thr
ENST00000644347.1:c.2662C>A	ENSP00000494183.1:p.Pro888Thr
ENST00000645566.1:c.2734C>A	ENSP00000494788.1:p.Pro912Thr
ENST00000645937.2:n.2980C>A
ENST00000645986.2:c.2836C>A	ENSP00000494409.2:p.Pro946Thr
ENST00000646087.2:c.2071C>A	ENSP00000495510.2:p.Pro691Thr
ENST00000646120.2:c.2665C>A	ENSP00000495291.2:p.Pro889Thr
ENST00000675354.1:c.2683C>A	ENSP00000502315.1:p.Pro895Thr
ENST00000378158.5:c.2698C>A	ENSP00000367400.1:p.Pro900Thr
ENST00000378163.5:c.2749C>A	ENSP00000367405.1:p.Pro917Thr
ENST00000378166.8:c.2734C>A	ENSP00000367408.4:p.Pro912Thr
ENST00000378168.6:c.1114C>A	ENSP00000367410.2:p.Pro372Thr
ENST00000378179.7:c.1525C>A	ENSP00000367421.3:p.Pro509Thr
ENST00000421587.6:c.2662C>A	ENSP00000400526.2:p.Pro888Thr
ENST00000442742.6:c.2665C>A	ENSP00000398007.2:p.Pro889Thr
NM_001126054.2:c.2665C>A	NP_001119526.1:p.Pro889Thr
NM_001126055.2:c.2662C>A	NP_001119527.1:p.Pro888Thr
NM_003688.3:c.2734C>A	NP_003679.2:p.Pro912Thr
XM_005272686.3:c.2731C>A	XP_005272743.1:p.Pro911Thr
XM_006724566.2:c.2626C>A	XP_006724629.1:p.Pro876Thr
XM_011543993.1:c.2749C>A	XP_011542295.1:p.Pro917Thr
XM_011543994.1:c.2713C>A	XP_011542296.1:p.Pro905Thr
XM_011543995.1:c.2680C>A	XP_011542297.1:p.Pro894Thr
XM_011543996.1:c.2644C>A	XP_011542298.1:p.Pro882Thr
XM_011543997.1:c.2176C>A	XP_011542299.1:p.Pro726Thr
XM_005272686.4:c.2731C>A	XP_005272743.1:p.Pro911Thr
XM_006724566.3:c.2626C>A	XP_006724629.1:p.Pro876Thr
XM_011543993.2:c.2749C>A	XP_011542295.1:p.Pro917Thr
XM_011543994.2:c.2713C>A	XP_011542296.1:p.Pro905Thr
XM_011543995.2:c.2680C>A	XP_011542297.1:p.Pro894Thr
XM_011543996.2:c.2644C>A	XP_011542298.1:p.Pro882Thr
XM_011543997.3:c.2176C>A	XP_011542299.1:p.Pro726Thr
XM_024452473.1:c.2071C>A	XP_024308241.1:p.Pro691Thr
NM_001367721.1:c.2749C>A MANE Select	NP_001354650.1:p.Pro917Thr