Canonical Allele Identifier: CA412996627

Gene: CASK

Linked Data

• gnomAD v4: X-41660510-G-A
• COSMIC: COSM1121456
• MyVariant Identifiers: chrX:g.41519763G>A (hg19) ; chrX:g.41660510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41660510G>A , CM000685.2:g.41660510G>A	GRCh38
NC_000023.10:g.41519763G>A , CM000685.1:g.41519763G>A	GRCh37
NC_000023.9:g.41404707G>A	NCBI36
NG_016754.1:g.267525C>T
NG_016754.2:g.267525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.760C>T	ENSP00000367396.2:p.Arg254Cys
ENST00000378158.6:c.760C>T	ENSP00000367400.2:p.Arg254Cys
ENST00000378163.7:c.760C>T MANE Select	ENSP00000367405.1:p.Arg254Cys
ENST00000378166.9:c.760C>T	ENSP00000367408.5:p.Arg254Cys
ENST00000378168.8:c.778C>T	ENSP00000367410.4:p.Arg260Cys
ENST00000421587.8:c.778C>T	ENSP00000400526.4:p.Arg260Cys
ENST00000442742.7:c.760C>T	ENSP00000398007.3:p.Arg254Cys
ENST00000643043.2:c.205C>T	ENSP00000493518.2:p.Arg69Cys
ENST00000643831.2:c.760C>T	ENSP00000494388.2:p.Arg254Cys
ENST00000643853.1:n.474C>T
ENST00000644219.1:c.760C>T	ENSP00000495357.1:p.Arg254Cys
ENST00000644347.1:c.760C>T	ENSP00000494183.1:p.Arg254Cys
ENST00000645566.1:c.760C>T	ENSP00000494788.1:p.Arg254Cys
ENST00000645986.2:c.760C>T	ENSP00000494409.2:p.Arg254Cys
ENST00000646087.2:c.205C>T	ENSP00000495510.2:p.Arg69Cys
ENST00000646120.2:c.760C>T	ENSP00000495291.2:p.Arg254Cys
ENST00000647118.2:c.*447C>T	ENSP00000493700.1:n.*447C>T
ENST00000675354.1:c.778C>T	ENSP00000502315.1:p.Arg260Cys
ENST00000378154.1:c.760C>T	ENSP00000367396.1:p.Arg254Cys
ENST00000378158.5:c.760C>T	ENSP00000367400.1:p.Arg254Cys
ENST00000378163.5:c.760C>T	ENSP00000367405.1:p.Arg254Cys
ENST00000378166.8:c.760C>T	ENSP00000367408.4:p.Arg254Cys
ENST00000421587.6:c.760C>T	ENSP00000400526.2:p.Arg254Cys
ENST00000442742.6:c.760C>T	ENSP00000398007.2:p.Arg254Cys
ENST00000469265.1:n.207C>T
ENST00000486402.1:n.324C>T
NM_001126054.2:c.760C>T	NP_001119526.1:p.Arg254Cys
NM_001126055.2:c.760C>T	NP_001119527.1:p.Arg254Cys
NM_003688.3:c.760C>T	NP_003679.2:p.Arg254Cys
XM_005272686.3:c.760C>T	XP_005272743.1:p.Arg254Cys
XM_006724566.2:c.760C>T	XP_006724629.1:p.Arg254Cys
XM_011543993.1:c.778C>T	XP_011542295.1:p.Arg260Cys
XM_011543994.1:c.778C>T	XP_011542296.1:p.Arg260Cys
XM_011543995.1:c.778C>T	XP_011542297.1:p.Arg260Cys
XM_011543996.1:c.778C>T	XP_011542298.1:p.Arg260Cys
XM_011543997.1:c.205C>T	XP_011542299.1:p.Arg69Cys
XM_005272686.4:c.760C>T	XP_005272743.1:p.Arg254Cys
XM_006724566.3:c.760C>T	XP_006724629.1:p.Arg254Cys
XM_011543993.2:c.778C>T	XP_011542295.1:p.Arg260Cys
XM_011543994.2:c.778C>T	XP_011542296.1:p.Arg260Cys
XM_011543995.2:c.778C>T	XP_011542297.1:p.Arg260Cys
XM_011543996.2:c.778C>T	XP_011542298.1:p.Arg260Cys
XM_011543997.3:c.205C>T	XP_011542299.1:p.Arg69Cys
XM_024452473.1:c.205C>T	XP_024308241.1:p.Arg69Cys
NM_001367721.1:c.760C>T MANE Select	NP_001354650.1:p.Arg254Cys