Canonical Allele Identifier: CA412988722

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41379712G>C (hg19) ; chrX:g.41520459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520459G>C , CM000685.2:g.41520459G>C	GRCh38
NC_000023.10:g.41379712G>C , CM000685.1:g.41379712G>C	GRCh37
NC_000023.9:g.41264656G>C	NCBI36
NG_016754.1:g.407576C>G
NG_016754.2:g.407576C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2691C>G	ENSP00000367396.2:p.Cys897Trp
ENST00000378158.6:c.2688C>G	ENSP00000367400.2:p.Cys896Trp
ENST00000378163.7:c.2742C>G MANE Select	ENSP00000367405.1:p.Cys914Trp
ENST00000378166.9:c.2640C>G	ENSP00000367408.5:p.Cys880Trp
ENST00000378168.8:c.2745C>G	ENSP00000367410.4:p.Cys915Trp
ENST00000378179.9:c.1362C>G	ENSP00000367421.4:p.Cys454Trp
ENST00000421587.8:c.2673C>G	ENSP00000400526.4:p.Cys891Trp
ENST00000442742.7:c.2604C>G	ENSP00000398007.3:p.Cys868Trp
ENST00000642499.1:n.1521C>G
ENST00000642641.1:n.901C>G
ENST00000643733.1:c.541C>G
ENST00000644219.1:c.2724C>G	ENSP00000495357.1:p.Cys908Trp
ENST00000644347.1:c.2655C>G	ENSP00000494183.1:p.Cys885Trp
ENST00000645566.1:c.2727C>G	ENSP00000494788.1:p.Cys909Trp
ENST00000645937.2:n.2973C>G
ENST00000645986.2:c.2829C>G	ENSP00000494409.2:p.Cys943Trp
ENST00000646087.2:c.2064C>G	ENSP00000495510.2:p.Cys688Trp
ENST00000646120.2:c.2658C>G	ENSP00000495291.2:p.Cys886Trp
ENST00000675354.1:c.2676C>G	ENSP00000502315.1:p.Cys892Trp
ENST00000378158.5:c.2691C>G	ENSP00000367400.1:p.Cys897Trp
ENST00000378163.5:c.2742C>G	ENSP00000367405.1:p.Cys914Trp
ENST00000378166.8:c.2727C>G	ENSP00000367408.4:p.Cys909Trp
ENST00000378168.6:c.1107C>G	ENSP00000367410.2:p.Cys369Trp
ENST00000378179.7:c.1518C>G	ENSP00000367421.3:p.Cys506Trp
ENST00000421587.6:c.2655C>G	ENSP00000400526.2:p.Cys885Trp
ENST00000442742.6:c.2658C>G	ENSP00000398007.2:p.Cys886Trp
NM_001126054.2:c.2658C>G	NP_001119526.1:p.Cys886Trp
NM_001126055.2:c.2655C>G	NP_001119527.1:p.Cys885Trp
NM_003688.3:c.2727C>G	NP_003679.2:p.Cys909Trp
XM_005272686.3:c.2724C>G	XP_005272743.1:p.Cys908Trp
XM_006724566.2:c.2619C>G	XP_006724629.1:p.Cys873Trp
XM_011543993.1:c.2742C>G	XP_011542295.1:p.Cys914Trp
XM_011543994.1:c.2706C>G	XP_011542296.1:p.Cys902Trp
XM_011543995.1:c.2673C>G	XP_011542297.1:p.Cys891Trp
XM_011543996.1:c.2637C>G	XP_011542298.1:p.Cys879Trp
XM_011543997.1:c.2169C>G	XP_011542299.1:p.Cys723Trp
XM_005272686.4:c.2724C>G	XP_005272743.1:p.Cys908Trp
XM_006724566.3:c.2619C>G	XP_006724629.1:p.Cys873Trp
XM_011543993.2:c.2742C>G	XP_011542295.1:p.Cys914Trp
XM_011543994.2:c.2706C>G	XP_011542296.1:p.Cys902Trp
XM_011543995.2:c.2673C>G	XP_011542297.1:p.Cys891Trp
XM_011543996.2:c.2637C>G	XP_011542298.1:p.Cys879Trp
XM_011543997.3:c.2169C>G	XP_011542299.1:p.Cys723Trp
XM_024452473.1:c.2064C>G	XP_024308241.1:p.Cys688Trp
NM_001367721.1:c.2742C>G MANE Select	NP_001354650.1:p.Cys914Trp