Canonical Allele Identifier: CA250591

Gene: CASK

Linked Data

• ClinVar Variation Id: 11530
• ClinVar RCV Id: RCV000012286 ; RCV000255325
• dbSNP Id: rs137852815
• MyVariant Identifiers: chrX:g.41413096G>A (hg19) ; chrX:g.41553843G>A (hg38)
• PubMed: PMID:19165920

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41553843G>A , CM000685.2:g.41553843G>A	GRCh38
NC_000023.10:g.41413096G>A , CM000685.1:g.41413096G>A	GRCh37
NC_000023.9:g.41298040G>A	NCBI36
NG_016754.1:g.374192C>T
NG_016754.2:g.374192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.1879C>T	ENSP00000367396.2:p.Arg627Ter
ENST00000378158.6:c.1861C>T	ENSP00000367400.2:p.Arg621Ter
ENST00000378163.7:c.1915C>T MANE Select	ENSP00000367405.1:p.Arg639Ter
ENST00000378166.9:c.1828C>T	ENSP00000367408.5:p.Arg610Ter
ENST00000378168.8:c.1933C>T	ENSP00000367410.4:p.Arg645Ter
ENST00000378179.9:c.535C>T	ENSP00000367421.4:p.Arg179Ter
ENST00000421587.8:c.1846C>T	ENSP00000400526.4:p.Arg616Ter
ENST00000442742.7:c.1792C>T	ENSP00000398007.3:p.Arg598Ter
ENST00000472704.3:n.457C>T
ENST00000642499.1:n.709C>T
ENST00000644219.1:c.1897C>T	ENSP00000495357.1:p.Arg633Ter
ENST00000644347.1:c.1828C>T	ENSP00000494183.1:p.Arg610Ter
ENST00000645566.1:c.1915C>T	ENSP00000494788.1:p.Arg639Ter
ENST00000645937.2:n.2146C>T
ENST00000645986.2:c.1897C>T	ENSP00000494409.2:p.Arg633Ter
ENST00000646087.2:c.1237C>T	ENSP00000495510.2:p.Arg413Ter
ENST00000646120.2:c.1846C>T	ENSP00000495291.2:p.Arg616Ter
ENST00000675354.1:c.1864C>T	ENSP00000502315.1:p.Arg622Ter
ENST00000378158.5:c.1879C>T	ENSP00000367400.1:p.Arg627Ter
ENST00000378163.5:c.1915C>T	ENSP00000367405.1:p.Arg639Ter
ENST00000378166.8:c.1915C>T	ENSP00000367408.4:p.Arg639Ter
ENST00000378168.6:c.280C>T	ENSP00000367410.2:p.Arg94Ter
ENST00000378179.7:c.691C>T	ENSP00000367421.3:p.Arg231Ter
ENST00000421587.6:c.1828C>T	ENSP00000400526.2:p.Arg610Ter
ENST00000442742.6:c.1846C>T	ENSP00000398007.2:p.Arg616Ter
ENST00000472704.1:n.457C>T
NM_001126054.2:c.1846C>T	NP_001119526.1:p.Arg616Ter
NM_001126055.2:c.1828C>T	NP_001119527.1:p.Arg610Ter
NM_003688.3:c.1915C>T	NP_003679.2:p.Arg639Ter
XM_005272686.3:c.1897C>T	XP_005272743.1:p.Arg633Ter
XM_006724566.2:c.1792C>T	XP_006724629.1:p.Arg598Ter
XM_011543993.1:c.1915C>T	XP_011542295.1:p.Arg639Ter
XM_011543994.1:c.1879C>T	XP_011542296.1:p.Arg627Ter
XM_011543995.1:c.1846C>T	XP_011542297.1:p.Arg616Ter
XM_011543996.1:c.1810C>T	XP_011542298.1:p.Arg604Ter
XM_011543997.1:c.1342C>T	XP_011542299.1:p.Arg448Ter
XM_005272686.4:c.1897C>T	XP_005272743.1:p.Arg633Ter
XM_006724566.3:c.1792C>T	XP_006724629.1:p.Arg598Ter
XM_011543993.2:c.1915C>T	XP_011542295.1:p.Arg639Ter
XM_011543994.2:c.1879C>T	XP_011542296.1:p.Arg627Ter
XM_011543995.2:c.1846C>T	XP_011542297.1:p.Arg616Ter
XM_011543996.2:c.1810C>T	XP_011542298.1:p.Arg604Ter
XM_011543997.3:c.1342C>T	XP_011542299.1:p.Arg448Ter
XM_024452473.1:c.1237C>T	XP_024308241.1:p.Arg413Ter
NM_001367721.1:c.1915C>T MANE Select	NP_001354650.1:p.Arg639Ter