Canonical Allele Identifier: CA412988696

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41379699A>T (hg19) ; chrX:g.41520446A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520446A>T , CM000685.2:g.41520446A>T	GRCh38
NC_000023.10:g.41379699A>T , CM000685.1:g.41379699A>T	GRCh37
NC_000023.9:g.41264643A>T	NCBI36
NG_016754.1:g.407589T>A
NG_016754.2:g.407589T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2704T>A	ENSP00000367396.2:p.Trp902Arg
ENST00000378158.6:c.2701T>A	ENSP00000367400.2:p.Trp901Arg
ENST00000378163.7:c.2755T>A MANE Select	ENSP00000367405.1:p.Trp919Arg
ENST00000378166.9:c.2653T>A	ENSP00000367408.5:p.Trp885Arg
ENST00000378168.8:c.2758T>A	ENSP00000367410.4:p.Trp920Arg
ENST00000378179.9:c.1375T>A	ENSP00000367421.4:p.Trp459Arg
ENST00000421587.8:c.2686T>A	ENSP00000400526.4:p.Trp896Arg
ENST00000442742.7:c.2617T>A	ENSP00000398007.3:p.Trp873Arg
ENST00000642499.1:n.1534T>A
ENST00000642641.1:n.914T>A
ENST00000643733.1:c.554T>A
ENST00000644219.1:c.2737T>A	ENSP00000495357.1:p.Trp913Arg
ENST00000644347.1:c.2668T>A	ENSP00000494183.1:p.Trp890Arg
ENST00000645566.1:c.2740T>A	ENSP00000494788.1:p.Trp914Arg
ENST00000645937.2:n.2986T>A
ENST00000645986.2:c.2842T>A	ENSP00000494409.2:p.Trp948Arg
ENST00000646087.2:c.2077T>A	ENSP00000495510.2:p.Trp693Arg
ENST00000646120.2:c.2671T>A	ENSP00000495291.2:p.Trp891Arg
ENST00000675354.1:c.2689T>A	ENSP00000502315.1:p.Trp897Arg
ENST00000378158.5:c.2704T>A	ENSP00000367400.1:p.Trp902Arg
ENST00000378163.5:c.2755T>A	ENSP00000367405.1:p.Trp919Arg
ENST00000378166.8:c.2740T>A	ENSP00000367408.4:p.Trp914Arg
ENST00000378168.6:c.1120T>A	ENSP00000367410.2:p.Trp374Arg
ENST00000378179.7:c.1531T>A	ENSP00000367421.3:p.Trp511Arg
ENST00000421587.6:c.2668T>A	ENSP00000400526.2:p.Trp890Arg
ENST00000442742.6:c.2671T>A	ENSP00000398007.2:p.Trp891Arg
NM_001126054.2:c.2671T>A	NP_001119526.1:p.Trp891Arg
NM_001126055.2:c.2668T>A	NP_001119527.1:p.Trp890Arg
NM_003688.3:c.2740T>A	NP_003679.2:p.Trp914Arg
XM_005272686.3:c.2737T>A	XP_005272743.1:p.Trp913Arg
XM_006724566.2:c.2632T>A	XP_006724629.1:p.Trp878Arg
XM_011543993.1:c.2755T>A	XP_011542295.1:p.Trp919Arg
XM_011543994.1:c.2719T>A	XP_011542296.1:p.Trp907Arg
XM_011543995.1:c.2686T>A	XP_011542297.1:p.Trp896Arg
XM_011543996.1:c.2650T>A	XP_011542298.1:p.Trp884Arg
XM_011543997.1:c.2182T>A	XP_011542299.1:p.Trp728Arg
XM_005272686.4:c.2737T>A	XP_005272743.1:p.Trp913Arg
XM_006724566.3:c.2632T>A	XP_006724629.1:p.Trp878Arg
XM_011543993.2:c.2755T>A	XP_011542295.1:p.Trp919Arg
XM_011543994.2:c.2719T>A	XP_011542296.1:p.Trp907Arg
XM_011543995.2:c.2686T>A	XP_011542297.1:p.Trp896Arg
XM_011543996.2:c.2650T>A	XP_011542298.1:p.Trp884Arg
XM_011543997.3:c.2182T>A	XP_011542299.1:p.Trp728Arg
XM_024452473.1:c.2077T>A	XP_024308241.1:p.Trp693Arg
NM_001367721.1:c.2755T>A MANE Select	NP_001354650.1:p.Trp919Arg