Canonical Allele Identifier: CA10390025

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531117C>T , CM000685.2:g.41531117C>T	GRCh38
NC_000023.10:g.41390370C>T , CM000685.1:g.41390370C>T	GRCh37
NC_000023.9:g.41275314C>T	NCBI36
NG_016754.1:g.396918G>A
NG_016754.2:g.396918G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001367721.1:c.2410G>A MANE Select	NP_001354650.1:p.Glu804Lys
ENST00000378163.7:c.2410G>A MANE Select	ENSP00000367405.1:p.Glu804Lys
NM_001126054.2:c.2326G>A	NP_001119526.1:p.Glu776Lys
NM_001126055.2:c.2323G>A	NP_001119527.1:p.Glu775Lys
NM_003688.3:c.2395G>A	NP_003679.2:p.Glu799Lys
ENST00000378154.3:c.2359G>A	ENSP00000367396.2:p.Glu787Lys
ENST00000378158.5:c.2359G>A	ENSP00000367400.1:p.Glu787Lys
ENST00000378158.6:c.2356G>A	ENSP00000367400.2:p.Glu786Lys
ENST00000378163.5:c.2410G>A	ENSP00000367405.1:p.Glu804Lys
ENST00000378166.8:c.2395G>A	ENSP00000367408.4:p.Glu799Lys
ENST00000378166.9:c.2308G>A	ENSP00000367408.5:p.Glu770Lys
ENST00000378168.6:c.775G>A	ENSP00000367410.2:p.Glu259Lys
ENST00000378168.8:c.2413G>A	ENSP00000367410.4:p.Glu805Lys
ENST00000378179.7:c.1186G>A	ENSP00000367421.3:p.Glu396Lys
ENST00000378179.9:c.1030G>A	ENSP00000367421.4:p.Glu344Lys
ENST00000421587.6:c.2323G>A	ENSP00000400526.2:p.Glu775Lys
ENST00000421587.8:c.2341G>A	ENSP00000400526.4:p.Glu781Lys
ENST00000442742.6:c.2326G>A	ENSP00000398007.2:p.Glu776Lys
ENST00000442742.7:c.2272G>A	ENSP00000398007.3:p.Glu758Lys
ENST00000642499.1:n.1189G>A
ENST00000643733.1:c.182G>A
ENST00000644219.1:c.2392G>A	ENSP00000495357.1:p.Glu798Lys
ENST00000644347.1:c.2323G>A	ENSP00000494183.1:p.Glu775Lys
ENST00000645566.1:c.2395G>A	ENSP00000494788.1:p.Glu799Lys
ENST00000645937.2:n.2641G>A
ENST00000645986.2:c.2377G>A	ENSP00000494409.2:p.Glu793Lys
ENST00000646087.2:c.1732G>A	ENSP00000495510.2:p.Glu578Lys
ENST00000646120.2:c.2326G>A	ENSP00000495291.2:p.Glu776Lys
ENST00000675354.1:c.2344G>A	ENSP00000502315.1:p.Glu782Lys
XM_005272686.3:c.2392G>A	XP_005272743.1:p.Glu798Lys
XM_005272686.4:c.2392G>A	XP_005272743.1:p.Glu798Lys
XM_006724566.2:c.2287G>A	XP_006724629.1:p.Glu763Lys
XM_006724566.3:c.2287G>A	XP_006724629.1:p.Glu763Lys
XM_011543993.1:c.2410G>A	XP_011542295.1:p.Glu804Lys
XM_011543993.2:c.2410G>A	XP_011542295.1:p.Glu804Lys
XM_011543994.1:c.2374G>A	XP_011542296.1:p.Glu792Lys
XM_011543994.2:c.2374G>A	XP_011542296.1:p.Glu792Lys
XM_011543995.1:c.2341G>A	XP_011542297.1:p.Glu781Lys
XM_011543995.2:c.2341G>A	XP_011542297.1:p.Glu781Lys
XM_011543996.1:c.2305G>A	XP_011542298.1:p.Glu769Lys
XM_011543996.2:c.2305G>A	XP_011542298.1:p.Glu769Lys
XM_011543997.1:c.1837G>A	XP_011542299.1:p.Glu613Lys
XM_011543997.3:c.1837G>A	XP_011542299.1:p.Glu613Lys
XM_024452473.1:c.1732G>A	XP_024308241.1:p.Glu578Lys