Canonical Allele Identifier: CA412990341

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390374A>T (hg19) ; chrX:g.41531121A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531121A>T , CM000685.2:g.41531121A>T	GRCh38
NC_000023.10:g.41390374A>T , CM000685.1:g.41390374A>T	GRCh37
NC_000023.9:g.41275318A>T	NCBI36
NG_016754.1:g.396914T>A
NG_016754.2:g.396914T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2355T>A	ENSP00000367396.2:p.Asn785Lys
ENST00000378158.6:c.2352T>A	ENSP00000367400.2:p.Asn784Lys
ENST00000378163.7:c.2406T>A MANE Select	ENSP00000367405.1:p.Asn802Lys
ENST00000378166.9:c.2304T>A	ENSP00000367408.5:p.Asn768Lys
ENST00000378168.8:c.2409T>A	ENSP00000367410.4:p.Asn803Lys
ENST00000378179.9:c.1026T>A	ENSP00000367421.4:p.Asn342Lys
ENST00000421587.8:c.2337T>A	ENSP00000400526.4:p.Asn779Lys
ENST00000442742.7:c.2268T>A	ENSP00000398007.3:p.Asn756Lys
ENST00000642499.1:n.1185T>A
ENST00000643733.1:c.178T>A
ENST00000644219.1:c.2388T>A	ENSP00000495357.1:p.Asn796Lys
ENST00000644347.1:c.2319T>A	ENSP00000494183.1:p.Asn773Lys
ENST00000645566.1:c.2391T>A	ENSP00000494788.1:p.Asn797Lys
ENST00000645937.2:n.2637T>A
ENST00000645986.2:c.2373T>A	ENSP00000494409.2:p.Asn791Lys
ENST00000646087.2:c.1728T>A	ENSP00000495510.2:p.Asn576Lys
ENST00000646120.2:c.2322T>A	ENSP00000495291.2:p.Asn774Lys
ENST00000675354.1:c.2340T>A	ENSP00000502315.1:p.Asn780Lys
ENST00000378158.5:c.2355T>A	ENSP00000367400.1:p.Asn785Lys
ENST00000378163.5:c.2406T>A	ENSP00000367405.1:p.Asn802Lys
ENST00000378166.8:c.2391T>A	ENSP00000367408.4:p.Asn797Lys
ENST00000378168.6:c.771T>A	ENSP00000367410.2:p.Asn257Lys
ENST00000378179.7:c.1182T>A	ENSP00000367421.3:p.Asn394Lys
ENST00000421587.6:c.2319T>A	ENSP00000400526.2:p.Asn773Lys
ENST00000442742.6:c.2322T>A	ENSP00000398007.2:p.Asn774Lys
NM_001126054.2:c.2322T>A	NP_001119526.1:p.Asn774Lys
NM_001126055.2:c.2319T>A	NP_001119527.1:p.Asn773Lys
NM_003688.3:c.2391T>A	NP_003679.2:p.Asn797Lys
XM_005272686.3:c.2388T>A	XP_005272743.1:p.Asn796Lys
XM_006724566.2:c.2283T>A	XP_006724629.1:p.Asn761Lys
XM_011543993.1:c.2406T>A	XP_011542295.1:p.Asn802Lys
XM_011543994.1:c.2370T>A	XP_011542296.1:p.Asn790Lys
XM_011543995.1:c.2337T>A	XP_011542297.1:p.Asn779Lys
XM_011543996.1:c.2301T>A	XP_011542298.1:p.Asn767Lys
XM_011543997.1:c.1833T>A	XP_011542299.1:p.Asn611Lys
XM_005272686.4:c.2388T>A	XP_005272743.1:p.Asn796Lys
XM_006724566.3:c.2283T>A	XP_006724629.1:p.Asn761Lys
XM_011543993.2:c.2406T>A	XP_011542295.1:p.Asn802Lys
XM_011543994.2:c.2370T>A	XP_011542296.1:p.Asn790Lys
XM_011543995.2:c.2337T>A	XP_011542297.1:p.Asn779Lys
XM_011543996.2:c.2301T>A	XP_011542298.1:p.Asn767Lys
XM_011543997.3:c.1833T>A	XP_011542299.1:p.Asn611Lys
XM_024452473.1:c.1728T>A	XP_024308241.1:p.Asn576Lys
NM_001367721.1:c.2406T>A MANE Select	NP_001354650.1:p.Asn802Lys