Canonical Allele Identifier: CA412990122

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390321A>T (hg19) ; chrX:g.41531068A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531068A>T , CM000685.2:g.41531068A>T	GRCh38
NC_000023.10:g.41390321A>T , CM000685.1:g.41390321A>T	GRCh37
NC_000023.9:g.41275265A>T	NCBI36
NG_016754.1:g.396967T>A
NG_016754.2:g.396967T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2408T>A	ENSP00000367396.2:p.Leu803Gln
ENST00000378158.6:c.2405T>A	ENSP00000367400.2:p.Leu802Gln
ENST00000378163.7:c.2459T>A MANE Select	ENSP00000367405.1:p.Leu820Gln
ENST00000378166.9:c.2357T>A	ENSP00000367408.5:p.Leu786Gln
ENST00000378168.8:c.2462T>A	ENSP00000367410.4:p.Leu821Gln
ENST00000378179.9:c.1079T>A	ENSP00000367421.4:p.Leu360Gln
ENST00000421587.8:c.2390T>A	ENSP00000400526.4:p.Leu797Gln
ENST00000442742.7:c.2321T>A	ENSP00000398007.3:p.Leu774Gln
ENST00000642499.1:n.1238T>A
ENST00000643733.1:c.231T>A
ENST00000644219.1:c.2441T>A	ENSP00000495357.1:p.Leu814Gln
ENST00000644347.1:c.2372T>A	ENSP00000494183.1:p.Leu791Gln
ENST00000645566.1:c.2444T>A	ENSP00000494788.1:p.Leu815Gln
ENST00000645937.2:n.2690T>A
ENST00000645986.2:c.2426T>A	ENSP00000494409.2:p.Leu809Gln
ENST00000646087.2:c.1781T>A	ENSP00000495510.2:p.Leu594Gln
ENST00000646120.2:c.2375T>A	ENSP00000495291.2:p.Leu792Gln
ENST00000675354.1:c.2393T>A	ENSP00000502315.1:p.Leu798Gln
ENST00000378158.5:c.2408T>A	ENSP00000367400.1:p.Leu803Gln
ENST00000378163.5:c.2459T>A	ENSP00000367405.1:p.Leu820Gln
ENST00000378166.8:c.2444T>A	ENSP00000367408.4:p.Leu815Gln
ENST00000378168.6:c.824T>A	ENSP00000367410.2:p.Leu275Gln
ENST00000378179.7:c.1235T>A	ENSP00000367421.3:p.Leu412Gln
ENST00000421587.6:c.2372T>A	ENSP00000400526.2:p.Leu791Gln
ENST00000442742.6:c.2375T>A	ENSP00000398007.2:p.Leu792Gln
NM_001126054.2:c.2375T>A	NP_001119526.1:p.Leu792Gln
NM_001126055.2:c.2372T>A	NP_001119527.1:p.Leu791Gln
NM_003688.3:c.2444T>A	NP_003679.2:p.Leu815Gln
XM_005272686.3:c.2441T>A	XP_005272743.1:p.Leu814Gln
XM_006724566.2:c.2336T>A	XP_006724629.1:p.Leu779Gln
XM_011543993.1:c.2459T>A	XP_011542295.1:p.Leu820Gln
XM_011543994.1:c.2423T>A	XP_011542296.1:p.Leu808Gln
XM_011543995.1:c.2390T>A	XP_011542297.1:p.Leu797Gln
XM_011543996.1:c.2354T>A	XP_011542298.1:p.Leu785Gln
XM_011543997.1:c.1886T>A	XP_011542299.1:p.Leu629Gln
XM_005272686.4:c.2441T>A	XP_005272743.1:p.Leu814Gln
XM_006724566.3:c.2336T>A	XP_006724629.1:p.Leu779Gln
XM_011543993.2:c.2459T>A	XP_011542295.1:p.Leu820Gln
XM_011543994.2:c.2423T>A	XP_011542296.1:p.Leu808Gln
XM_011543995.2:c.2390T>A	XP_011542297.1:p.Leu797Gln
XM_011543996.2:c.2354T>A	XP_011542298.1:p.Leu785Gln
XM_011543997.3:c.1886T>A	XP_011542299.1:p.Leu629Gln
XM_024452473.1:c.1781T>A	XP_024308241.1:p.Leu594Gln
NM_001367721.1:c.2459T>A MANE Select	NP_001354650.1:p.Leu820Gln