Canonical Allele Identifier: CA2425948884

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41534946T= , CM000685.2:g.41534946T=	GRCh38
NC_000023.10:g.41394199T= , CM000685.1:g.41394199T=	GRCh37
NC_000023.9:g.41279143T=	NCBI36
NG_016754.1:g.393089A=
NG_016754.2:g.393089A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001367721.1:c.2183A= MANE Select	NP_001354650.1:p.Tyr728=
ENST00000378163.7:c.2183A= MANE Select	ENSP00000367405.1:p.Tyr728=
NM_001126054.2:c.2099A=	NP_001119526.1:p.Tyr700=
NM_001126055.2:c.2096A=	NP_001119527.1:p.Tyr699=
NM_003688.3:c.2168A=	NP_003679.2:p.Tyr723=
ENST00000378154.3:c.2132A=	ENSP00000367396.2:p.Tyr711=
ENST00000378158.5:c.2132A=	ENSP00000367400.1:p.Tyr711=
ENST00000378158.6:c.2129A=	ENSP00000367400.2:p.Tyr710=
ENST00000378163.5:c.2183A=	ENSP00000367405.1:p.Tyr728=
ENST00000378166.8:c.2168A=	ENSP00000367408.4:p.Tyr723=
ENST00000378166.9:c.2081A=	ENSP00000367408.5:p.Tyr694=
ENST00000378168.6:c.548A=	ENSP00000367410.2:p.Tyr183=
ENST00000378168.8:c.2186A=	ENSP00000367410.4:p.Tyr729=
ENST00000378179.7:c.959A=	ENSP00000367421.3:p.Tyr320=
ENST00000378179.9:c.803A=	ENSP00000367421.4:p.Tyr268=
ENST00000421587.6:c.2096A=	ENSP00000400526.2:p.Tyr699=
ENST00000421587.8:c.2114A=	ENSP00000400526.4:p.Tyr705=
ENST00000442742.6:c.2099A=	ENSP00000398007.2:p.Tyr700=
ENST00000442742.7:c.2045A=	ENSP00000398007.3:p.Tyr682=
ENST00000642499.1:n.962A=
ENST00000644219.1:c.2165A=	ENSP00000495357.1:p.Tyr722=
ENST00000644347.1:c.2096A=	ENSP00000494183.1:p.Tyr699=
ENST00000645566.1:c.2168A=	ENSP00000494788.1:p.Tyr723=
ENST00000645937.2:n.2414A=
ENST00000645986.2:c.2150A=	ENSP00000494409.2:p.Tyr717=
ENST00000646087.2:c.1505A=	ENSP00000495510.2:p.Tyr502=
ENST00000646120.2:c.2099A=	ENSP00000495291.2:p.Tyr700=
ENST00000675354.1:c.2117A=	ENSP00000502315.1:p.Tyr706=
XM_005272686.3:c.2165A=	XP_005272743.1:p.Tyr722=
XM_005272686.4:c.2165A=	XP_005272743.1:p.Tyr722=
XM_006724566.2:c.2060A=	XP_006724629.1:p.Tyr687=
XM_006724566.3:c.2060A=	XP_006724629.1:p.Tyr687=
XM_011543993.1:c.2183A=	XP_011542295.1:p.Tyr728=
XM_011543993.2:c.2183A=	XP_011542295.1:p.Tyr728=
XM_011543994.1:c.2147A=	XP_011542296.1:p.Tyr716=
XM_011543994.2:c.2147A=	XP_011542296.1:p.Tyr716=
XM_011543995.1:c.2114A=	XP_011542297.1:p.Tyr705=
XM_011543995.2:c.2114A=	XP_011542297.1:p.Tyr705=
XM_011543996.1:c.2078A=	XP_011542298.1:p.Tyr693=
XM_011543996.2:c.2078A=	XP_011542298.1:p.Tyr693=
XM_011543997.1:c.1610A=	XP_011542299.1:p.Tyr537=
XM_011543997.3:c.1610A=	XP_011542299.1:p.Tyr537=
XM_024452473.1:c.1505A=	XP_024308241.1:p.Tyr502=