Canonical Allele Identifier: CA412988718

Gene: CASK

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2693C>A	ENSP00000367396.2:p.Thr898Lys
ENST00000378158.6:c.2690C>A	ENSP00000367400.2:p.Thr897Lys
ENST00000378163.7:c.2744C>A MANE Select	ENSP00000367405.1:p.Thr915Lys
ENST00000378166.9:c.2642C>A	ENSP00000367408.5:p.Thr881Lys
ENST00000378168.8:c.2747C>A	ENSP00000367410.4:p.Thr916Lys
ENST00000378179.9:c.1364C>A	ENSP00000367421.4:p.Thr455Lys
ENST00000421587.8:c.2675C>A	ENSP00000400526.4:p.Thr892Lys
ENST00000442742.7:c.2606C>A	ENSP00000398007.3:p.Thr869Lys
ENST00000642499.1:n.1523C>A
ENST00000642641.1:n.903C>A
ENST00000643733.1:c.543C>A
ENST00000644219.1:c.2726C>A	ENSP00000495357.1:p.Thr909Lys
ENST00000644347.1:c.2657C>A	ENSP00000494183.1:p.Thr886Lys
ENST00000645566.1:c.2729C>A	ENSP00000494788.1:p.Thr910Lys
ENST00000645937.2:n.2975C>A
ENST00000645986.2:c.2831C>A	ENSP00000494409.2:p.Thr944Lys
ENST00000646087.2:c.2066C>A	ENSP00000495510.2:p.Thr689Lys
ENST00000646120.2:c.2660C>A	ENSP00000495291.2:p.Thr887Lys
ENST00000675354.1:c.2678C>A	ENSP00000502315.1:p.Thr893Lys
ENST00000378158.5:c.2693C>A	ENSP00000367400.1:p.Thr898Lys
ENST00000378163.5:c.2744C>A	ENSP00000367405.1:p.Thr915Lys
ENST00000378166.8:c.2729C>A	ENSP00000367408.4:p.Thr910Lys
ENST00000378168.6:c.1109C>A	ENSP00000367410.2:p.Thr370Lys
ENST00000378179.7:c.1520C>A	ENSP00000367421.3:p.Thr507Lys
ENST00000421587.6:c.2657C>A	ENSP00000400526.2:p.Thr886Lys
ENST00000442742.6:c.2660C>A	ENSP00000398007.2:p.Thr887Lys
NM_001126054.2:c.2660C>A	NP_001119526.1:p.Thr887Lys
NM_001126055.2:c.2657C>A	NP_001119527.1:p.Thr886Lys
NM_003688.3:c.2729C>A	NP_003679.2:p.Thr910Lys
XM_005272686.3:c.2726C>A	XP_005272743.1:p.Thr909Lys
XM_006724566.2:c.2621C>A	XP_006724629.1:p.Thr874Lys
XM_011543993.1:c.2744C>A	XP_011542295.1:p.Thr915Lys
XM_011543994.1:c.2708C>A	XP_011542296.1:p.Thr903Lys
XM_011543995.1:c.2675C>A	XP_011542297.1:p.Thr892Lys
XM_011543996.1:c.2639C>A	XP_011542298.1:p.Thr880Lys
XM_011543997.1:c.2171C>A	XP_011542299.1:p.Thr724Lys
XM_005272686.4:c.2726C>A	XP_005272743.1:p.Thr909Lys
XM_006724566.3:c.2621C>A	XP_006724629.1:p.Thr874Lys
XM_011543993.2:c.2744C>A	XP_011542295.1:p.Thr915Lys
XM_011543994.2:c.2708C>A	XP_011542296.1:p.Thr903Lys
XM_011543995.2:c.2675C>A	XP_011542297.1:p.Thr892Lys
XM_011543996.2:c.2639C>A	XP_011542298.1:p.Thr880Lys
XM_011543997.3:c.2171C>A	XP_011542299.1:p.Thr724Lys
XM_024452473.1:c.2066C>A	XP_024308241.1:p.Thr689Lys
NM_001367721.1:c.2744C>A MANE Select	NP_001354650.1:p.Thr915Lys