Canonical Allele Identifier: CA412990060

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390303A>C (hg19) ; chrX:g.41531050A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531050A>C , CM000685.2:g.41531050A>C	GRCh38
NC_000023.10:g.41390303A>C , CM000685.1:g.41390303A>C	GRCh37
NC_000023.9:g.41275247A>C	NCBI36
NG_016754.1:g.396985T>G
NG_016754.2:g.396985T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2426T>G	ENSP00000367396.2:p.Ile809Ser
ENST00000378158.6:c.2423T>G	ENSP00000367400.2:p.Ile808Ser
ENST00000378163.7:c.2477T>G MANE Select	ENSP00000367405.1:p.Ile826Ser
ENST00000378166.9:c.2375T>G	ENSP00000367408.5:p.Ile792Ser
ENST00000378168.8:c.2480T>G	ENSP00000367410.4:p.Ile827Ser
ENST00000378179.9:c.1097T>G	ENSP00000367421.4:p.Ile366Ser
ENST00000421587.8:c.2408T>G	ENSP00000400526.4:p.Ile803Ser
ENST00000442742.7:c.2339T>G	ENSP00000398007.3:p.Ile780Ser
ENST00000642499.1:n.1256T>G
ENST00000643733.1:c.249T>G
ENST00000644219.1:c.2459T>G	ENSP00000495357.1:p.Ile820Ser
ENST00000644347.1:c.2390T>G	ENSP00000494183.1:p.Ile797Ser
ENST00000645566.1:c.2462T>G	ENSP00000494788.1:p.Ile821Ser
ENST00000645937.2:n.2708T>G
ENST00000645986.2:c.2444T>G	ENSP00000494409.2:p.Ile815Ser
ENST00000646087.2:c.1799T>G	ENSP00000495510.2:p.Ile600Ser
ENST00000646120.2:c.2393T>G	ENSP00000495291.2:p.Ile798Ser
ENST00000675354.1:c.2411T>G	ENSP00000502315.1:p.Ile804Ser
ENST00000378158.5:c.2426T>G	ENSP00000367400.1:p.Ile809Ser
ENST00000378163.5:c.2477T>G	ENSP00000367405.1:p.Ile826Ser
ENST00000378166.8:c.2462T>G	ENSP00000367408.4:p.Ile821Ser
ENST00000378168.6:c.842T>G	ENSP00000367410.2:p.Ile281Ser
ENST00000378179.7:c.1253T>G	ENSP00000367421.3:p.Ile418Ser
ENST00000421587.6:c.2390T>G	ENSP00000400526.2:p.Ile797Ser
ENST00000442742.6:c.2393T>G	ENSP00000398007.2:p.Ile798Ser
NM_001126054.2:c.2393T>G	NP_001119526.1:p.Ile798Ser
NM_001126055.2:c.2390T>G	NP_001119527.1:p.Ile797Ser
NM_003688.3:c.2462T>G	NP_003679.2:p.Ile821Ser
XM_005272686.3:c.2459T>G	XP_005272743.1:p.Ile820Ser
XM_006724566.2:c.2354T>G	XP_006724629.1:p.Ile785Ser
XM_011543993.1:c.2477T>G	XP_011542295.1:p.Ile826Ser
XM_011543994.1:c.2441T>G	XP_011542296.1:p.Ile814Ser
XM_011543995.1:c.2408T>G	XP_011542297.1:p.Ile803Ser
XM_011543996.1:c.2372T>G	XP_011542298.1:p.Ile791Ser
XM_011543997.1:c.1904T>G	XP_011542299.1:p.Ile635Ser
XM_005272686.4:c.2459T>G	XP_005272743.1:p.Ile820Ser
XM_006724566.3:c.2354T>G	XP_006724629.1:p.Ile785Ser
XM_011543993.2:c.2477T>G	XP_011542295.1:p.Ile826Ser
XM_011543994.2:c.2441T>G	XP_011542296.1:p.Ile814Ser
XM_011543995.2:c.2408T>G	XP_011542297.1:p.Ile803Ser
XM_011543996.2:c.2372T>G	XP_011542298.1:p.Ile791Ser
XM_011543997.3:c.1904T>G	XP_011542299.1:p.Ile635Ser
XM_024452473.1:c.1799T>G	XP_024308241.1:p.Ile600Ser
NM_001367721.1:c.2477T>G MANE Select	NP_001354650.1:p.Ile826Ser