Canonical Allele Identifier: CA412990100

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390315G>T (hg19) ; chrX:g.41531062G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531062G>T , CM000685.2:g.41531062G>T	GRCh38
NC_000023.10:g.41390315G>T , CM000685.1:g.41390315G>T	GRCh37
NC_000023.9:g.41275259G>T	NCBI36
NG_016754.1:g.396973C>A
NG_016754.2:g.396973C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2414C>A	ENSP00000367396.2:p.Thr805Asn
ENST00000378158.6:c.2411C>A	ENSP00000367400.2:p.Thr804Asn
ENST00000378163.7:c.2465C>A MANE Select	ENSP00000367405.1:p.Thr822Asn
ENST00000378166.9:c.2363C>A	ENSP00000367408.5:p.Thr788Asn
ENST00000378168.8:c.2468C>A	ENSP00000367410.4:p.Thr823Asn
ENST00000378179.9:c.1085C>A	ENSP00000367421.4:p.Thr362Asn
ENST00000421587.8:c.2396C>A	ENSP00000400526.4:p.Thr799Asn
ENST00000442742.7:c.2327C>A	ENSP00000398007.3:p.Thr776Asn
ENST00000642499.1:n.1244C>A
ENST00000643733.1:c.237C>A
ENST00000644219.1:c.2447C>A	ENSP00000495357.1:p.Thr816Asn
ENST00000644347.1:c.2378C>A	ENSP00000494183.1:p.Thr793Asn
ENST00000645566.1:c.2450C>A	ENSP00000494788.1:p.Thr817Asn
ENST00000645937.2:n.2696C>A
ENST00000645986.2:c.2432C>A	ENSP00000494409.2:p.Thr811Asn
ENST00000646087.2:c.1787C>A	ENSP00000495510.2:p.Thr596Asn
ENST00000646120.2:c.2381C>A	ENSP00000495291.2:p.Thr794Asn
ENST00000675354.1:c.2399C>A	ENSP00000502315.1:p.Thr800Asn
ENST00000378158.5:c.2414C>A	ENSP00000367400.1:p.Thr805Asn
ENST00000378163.5:c.2465C>A	ENSP00000367405.1:p.Thr822Asn
ENST00000378166.8:c.2450C>A	ENSP00000367408.4:p.Thr817Asn
ENST00000378168.6:c.830C>A	ENSP00000367410.2:p.Thr277Asn
ENST00000378179.7:c.1241C>A	ENSP00000367421.3:p.Thr414Asn
ENST00000421587.6:c.2378C>A	ENSP00000400526.2:p.Thr793Asn
ENST00000442742.6:c.2381C>A	ENSP00000398007.2:p.Thr794Asn
NM_001126054.2:c.2381C>A	NP_001119526.1:p.Thr794Asn
NM_001126055.2:c.2378C>A	NP_001119527.1:p.Thr793Asn
NM_003688.3:c.2450C>A	NP_003679.2:p.Thr817Asn
XM_005272686.3:c.2447C>A	XP_005272743.1:p.Thr816Asn
XM_006724566.2:c.2342C>A	XP_006724629.1:p.Thr781Asn
XM_011543993.1:c.2465C>A	XP_011542295.1:p.Thr822Asn
XM_011543994.1:c.2429C>A	XP_011542296.1:p.Thr810Asn
XM_011543995.1:c.2396C>A	XP_011542297.1:p.Thr799Asn
XM_011543996.1:c.2360C>A	XP_011542298.1:p.Thr787Asn
XM_011543997.1:c.1892C>A	XP_011542299.1:p.Thr631Asn
XM_005272686.4:c.2447C>A	XP_005272743.1:p.Thr816Asn
XM_006724566.3:c.2342C>A	XP_006724629.1:p.Thr781Asn
XM_011543993.2:c.2465C>A	XP_011542295.1:p.Thr822Asn
XM_011543994.2:c.2429C>A	XP_011542296.1:p.Thr810Asn
XM_011543995.2:c.2396C>A	XP_011542297.1:p.Thr799Asn
XM_011543996.2:c.2360C>A	XP_011542298.1:p.Thr787Asn
XM_011543997.3:c.1892C>A	XP_011542299.1:p.Thr631Asn
XM_024452473.1:c.1787C>A	XP_024308241.1:p.Thr596Asn
NM_001367721.1:c.2465C>A MANE Select	NP_001354650.1:p.Thr822Asn