Canonical Allele Identifier: CA412990064

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390304T>C (hg19) ; chrX:g.41531051T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531051T>C , CM000685.2:g.41531051T>C	GRCh38
NC_000023.10:g.41390304T>C , CM000685.1:g.41390304T>C	GRCh37
NC_000023.9:g.41275248T>C	NCBI36
NG_016754.1:g.396984A>G
NG_016754.2:g.396984A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2425A>G	ENSP00000367396.2:p.Ile809Val
ENST00000378158.6:c.2422A>G	ENSP00000367400.2:p.Ile808Val
ENST00000378163.7:c.2476A>G MANE Select	ENSP00000367405.1:p.Ile826Val
ENST00000378166.9:c.2374A>G	ENSP00000367408.5:p.Ile792Val
ENST00000378168.8:c.2479A>G	ENSP00000367410.4:p.Ile827Val
ENST00000378179.9:c.1096A>G	ENSP00000367421.4:p.Ile366Val
ENST00000421587.8:c.2407A>G	ENSP00000400526.4:p.Ile803Val
ENST00000442742.7:c.2338A>G	ENSP00000398007.3:p.Ile780Val
ENST00000642499.1:n.1255A>G
ENST00000643733.1:c.248A>G
ENST00000644219.1:c.2458A>G	ENSP00000495357.1:p.Ile820Val
ENST00000644347.1:c.2389A>G	ENSP00000494183.1:p.Ile797Val
ENST00000645566.1:c.2461A>G	ENSP00000494788.1:p.Ile821Val
ENST00000645937.2:n.2707A>G
ENST00000645986.2:c.2443A>G	ENSP00000494409.2:p.Ile815Val
ENST00000646087.2:c.1798A>G	ENSP00000495510.2:p.Ile600Val
ENST00000646120.2:c.2392A>G	ENSP00000495291.2:p.Ile798Val
ENST00000675354.1:c.2410A>G	ENSP00000502315.1:p.Ile804Val
ENST00000378158.5:c.2425A>G	ENSP00000367400.1:p.Ile809Val
ENST00000378163.5:c.2476A>G	ENSP00000367405.1:p.Ile826Val
ENST00000378166.8:c.2461A>G	ENSP00000367408.4:p.Ile821Val
ENST00000378168.6:c.841A>G	ENSP00000367410.2:p.Ile281Val
ENST00000378179.7:c.1252A>G	ENSP00000367421.3:p.Ile418Val
ENST00000421587.6:c.2389A>G	ENSP00000400526.2:p.Ile797Val
ENST00000442742.6:c.2392A>G	ENSP00000398007.2:p.Ile798Val
NM_001126054.2:c.2392A>G	NP_001119526.1:p.Ile798Val
NM_001126055.2:c.2389A>G	NP_001119527.1:p.Ile797Val
NM_003688.3:c.2461A>G	NP_003679.2:p.Ile821Val
XM_005272686.3:c.2458A>G	XP_005272743.1:p.Ile820Val
XM_006724566.2:c.2353A>G	XP_006724629.1:p.Ile785Val
XM_011543993.1:c.2476A>G	XP_011542295.1:p.Ile826Val
XM_011543994.1:c.2440A>G	XP_011542296.1:p.Ile814Val
XM_011543995.1:c.2407A>G	XP_011542297.1:p.Ile803Val
XM_011543996.1:c.2371A>G	XP_011542298.1:p.Ile791Val
XM_011543997.1:c.1903A>G	XP_011542299.1:p.Ile635Val
XM_005272686.4:c.2458A>G	XP_005272743.1:p.Ile820Val
XM_006724566.3:c.2353A>G	XP_006724629.1:p.Ile785Val
XM_011543993.2:c.2476A>G	XP_011542295.1:p.Ile826Val
XM_011543994.2:c.2440A>G	XP_011542296.1:p.Ile814Val
XM_011543995.2:c.2407A>G	XP_011542297.1:p.Ile803Val
XM_011543996.2:c.2371A>G	XP_011542298.1:p.Ile791Val
XM_011543997.3:c.1903A>G	XP_011542299.1:p.Ile635Val
XM_024452473.1:c.1798A>G	XP_024308241.1:p.Ile600Val
NM_001367721.1:c.2476A>G MANE Select	NP_001354650.1:p.Ile826Val