Canonical Allele Identifier: CA412990645

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390444T>C (hg19) ; chrX:g.41531191T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531191T>C , CM000685.2:g.41531191T>C	GRCh38
NC_000023.10:g.41390444T>C , CM000685.1:g.41390444T>C	GRCh37
NC_000023.9:g.41275388T>C	NCBI36
NG_016754.1:g.396844A>G
NG_016754.2:g.396844A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2285A>G	ENSP00000367396.2:p.Lys762Arg
ENST00000378158.6:c.2282A>G	ENSP00000367400.2:p.Lys761Arg
ENST00000378163.7:c.2336A>G MANE Select	ENSP00000367405.1:p.Lys779Arg
ENST00000378166.9:c.2234A>G	ENSP00000367408.5:p.Lys745Arg
ENST00000378168.8:c.2339A>G	ENSP00000367410.4:p.Lys780Arg
ENST00000378179.9:c.956A>G	ENSP00000367421.4:p.Lys319Arg
ENST00000421587.8:c.2267A>G	ENSP00000400526.4:p.Lys756Arg
ENST00000442742.7:c.2198A>G	ENSP00000398007.3:p.Lys733Arg
ENST00000642499.1:n.1115A>G
ENST00000643733.1:c.108A>G
ENST00000644219.1:c.2318A>G	ENSP00000495357.1:p.Lys773Arg
ENST00000644347.1:c.2249A>G	ENSP00000494183.1:p.Lys750Arg
ENST00000645566.1:c.2321A>G	ENSP00000494788.1:p.Lys774Arg
ENST00000645937.2:n.2567A>G
ENST00000645986.2:c.2303A>G	ENSP00000494409.2:p.Lys768Arg
ENST00000646087.2:c.1658A>G	ENSP00000495510.2:p.Lys553Arg
ENST00000646120.2:c.2252A>G	ENSP00000495291.2:p.Lys751Arg
ENST00000675354.1:c.2270A>G	ENSP00000502315.1:p.Lys757Arg
ENST00000378158.5:c.2285A>G	ENSP00000367400.1:p.Lys762Arg
ENST00000378163.5:c.2336A>G	ENSP00000367405.1:p.Lys779Arg
ENST00000378166.8:c.2321A>G	ENSP00000367408.4:p.Lys774Arg
ENST00000378168.6:c.701A>G	ENSP00000367410.2:p.Lys234Arg
ENST00000378179.7:c.1112A>G	ENSP00000367421.3:p.Lys371Arg
ENST00000421587.6:c.2249A>G	ENSP00000400526.2:p.Lys750Arg
ENST00000442742.6:c.2252A>G	ENSP00000398007.2:p.Lys751Arg
NM_001126054.2:c.2252A>G	NP_001119526.1:p.Lys751Arg
NM_001126055.2:c.2249A>G	NP_001119527.1:p.Lys750Arg
NM_003688.3:c.2321A>G	NP_003679.2:p.Lys774Arg
XM_005272686.3:c.2318A>G	XP_005272743.1:p.Lys773Arg
XM_006724566.2:c.2213A>G	XP_006724629.1:p.Lys738Arg
XM_011543993.1:c.2336A>G	XP_011542295.1:p.Lys779Arg
XM_011543994.1:c.2300A>G	XP_011542296.1:p.Lys767Arg
XM_011543995.1:c.2267A>G	XP_011542297.1:p.Lys756Arg
XM_011543996.1:c.2231A>G	XP_011542298.1:p.Lys744Arg
XM_011543997.1:c.1763A>G	XP_011542299.1:p.Lys588Arg
XM_005272686.4:c.2318A>G	XP_005272743.1:p.Lys773Arg
XM_006724566.3:c.2213A>G	XP_006724629.1:p.Lys738Arg
XM_011543993.2:c.2336A>G	XP_011542295.1:p.Lys779Arg
XM_011543994.2:c.2300A>G	XP_011542296.1:p.Lys767Arg
XM_011543995.2:c.2267A>G	XP_011542297.1:p.Lys756Arg
XM_011543996.2:c.2231A>G	XP_011542298.1:p.Lys744Arg
XM_011543997.3:c.1763A>G	XP_011542299.1:p.Lys588Arg
XM_024452473.1:c.1658A>G	XP_024308241.1:p.Lys553Arg
NM_001367721.1:c.2336A>G MANE Select	NP_001354650.1:p.Lys779Arg