Canonical Allele Identifier: CA412988704

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41379702G>T (hg19) ; chrX:g.41520449G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520449G>T , CM000685.2:g.41520449G>T	GRCh38
NC_000023.10:g.41379702G>T , CM000685.1:g.41379702G>T	GRCh37
NC_000023.9:g.41264646G>T	NCBI36
NG_016754.1:g.407586C>A
NG_016754.2:g.407586C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2701C>A	ENSP00000367396.2:p.Gln901Lys
ENST00000378158.6:c.2698C>A	ENSP00000367400.2:p.Gln900Lys
ENST00000378163.7:c.2752C>A MANE Select	ENSP00000367405.1:p.Gln918Lys
ENST00000378166.9:c.2650C>A	ENSP00000367408.5:p.Gln884Lys
ENST00000378168.8:c.2755C>A	ENSP00000367410.4:p.Gln919Lys
ENST00000378179.9:c.1372C>A	ENSP00000367421.4:p.Gln458Lys
ENST00000421587.8:c.2683C>A	ENSP00000400526.4:p.Gln895Lys
ENST00000442742.7:c.2614C>A	ENSP00000398007.3:p.Gln872Lys
ENST00000642499.1:n.1531C>A
ENST00000642641.1:n.911C>A
ENST00000643733.1:c.551C>A
ENST00000644219.1:c.2734C>A	ENSP00000495357.1:p.Gln912Lys
ENST00000644347.1:c.2665C>A	ENSP00000494183.1:p.Gln889Lys
ENST00000645566.1:c.2737C>A	ENSP00000494788.1:p.Gln913Lys
ENST00000645937.2:n.2983C>A
ENST00000645986.2:c.2839C>A	ENSP00000494409.2:p.Gln947Lys
ENST00000646087.2:c.2074C>A	ENSP00000495510.2:p.Gln692Lys
ENST00000646120.2:c.2668C>A	ENSP00000495291.2:p.Gln890Lys
ENST00000675354.1:c.2686C>A	ENSP00000502315.1:p.Gln896Lys
ENST00000378158.5:c.2701C>A	ENSP00000367400.1:p.Gln901Lys
ENST00000378163.5:c.2752C>A	ENSP00000367405.1:p.Gln918Lys
ENST00000378166.8:c.2737C>A	ENSP00000367408.4:p.Gln913Lys
ENST00000378168.6:c.1117C>A	ENSP00000367410.2:p.Gln373Lys
ENST00000378179.7:c.1528C>A	ENSP00000367421.3:p.Gln510Lys
ENST00000421587.6:c.2665C>A	ENSP00000400526.2:p.Gln889Lys
ENST00000442742.6:c.2668C>A	ENSP00000398007.2:p.Gln890Lys
NM_001126054.2:c.2668C>A	NP_001119526.1:p.Gln890Lys
NM_001126055.2:c.2665C>A	NP_001119527.1:p.Gln889Lys
NM_003688.3:c.2737C>A	NP_003679.2:p.Gln913Lys
XM_005272686.3:c.2734C>A	XP_005272743.1:p.Gln912Lys
XM_006724566.2:c.2629C>A	XP_006724629.1:p.Gln877Lys
XM_011543993.1:c.2752C>A	XP_011542295.1:p.Gln918Lys
XM_011543994.1:c.2716C>A	XP_011542296.1:p.Gln906Lys
XM_011543995.1:c.2683C>A	XP_011542297.1:p.Gln895Lys
XM_011543996.1:c.2647C>A	XP_011542298.1:p.Gln883Lys
XM_011543997.1:c.2179C>A	XP_011542299.1:p.Gln727Lys
XM_005272686.4:c.2734C>A	XP_005272743.1:p.Gln912Lys
XM_006724566.3:c.2629C>A	XP_006724629.1:p.Gln877Lys
XM_011543993.2:c.2752C>A	XP_011542295.1:p.Gln918Lys
XM_011543994.2:c.2716C>A	XP_011542296.1:p.Gln906Lys
XM_011543995.2:c.2683C>A	XP_011542297.1:p.Gln895Lys
XM_011543996.2:c.2647C>A	XP_011542298.1:p.Gln883Lys
XM_011543997.3:c.2179C>A	XP_011542299.1:p.Gln727Lys
XM_024452473.1:c.2074C>A	XP_024308241.1:p.Gln692Lys
NM_001367721.1:c.2752C>A MANE Select	NP_001354650.1:p.Gln918Lys