Canonical Allele Identifier: CA412989945

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390272G>T (hg19) ; chrX:g.41531019G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531019G>T , CM000685.2:g.41531019G>T	GRCh38
NC_000023.10:g.41390272G>T , CM000685.1:g.41390272G>T	GRCh37
NC_000023.9:g.41275216G>T	NCBI36
NG_016754.1:g.397016C>A
NG_016754.2:g.397016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2457C>A	ENSP00000367396.2:p.Asp819Glu
ENST00000378158.6:c.2454C>A	ENSP00000367400.2:p.Asp818Glu
ENST00000378163.7:c.2508C>A MANE Select	ENSP00000367405.1:p.Asp836Glu
ENST00000378166.9:c.2406C>A	ENSP00000367408.5:p.Asp802Glu
ENST00000378168.8:c.2511C>A	ENSP00000367410.4:p.Asp837Glu
ENST00000378179.9:c.1128C>A	ENSP00000367421.4:p.Asp376Glu
ENST00000421587.8:c.2439C>A	ENSP00000400526.4:p.Asp813Glu
ENST00000442742.7:c.2370C>A	ENSP00000398007.3:p.Asp790Glu
ENST00000642499.1:n.1287C>A
ENST00000643733.1:c.280C>A
ENST00000644219.1:c.2490C>A	ENSP00000495357.1:p.Asp830Glu
ENST00000644347.1:c.2421C>A	ENSP00000494183.1:p.Asp807Glu
ENST00000645566.1:c.2493C>A	ENSP00000494788.1:p.Asp831Glu
ENST00000645937.2:n.2739C>A
ENST00000645986.2:c.2475C>A	ENSP00000494409.2:p.Asp825Glu
ENST00000646087.2:c.1830C>A	ENSP00000495510.2:p.Asp610Glu
ENST00000646120.2:c.2424C>A	ENSP00000495291.2:p.Asp808Glu
ENST00000675354.1:c.2442C>A	ENSP00000502315.1:p.Asp814Glu
ENST00000378158.5:c.2457C>A	ENSP00000367400.1:p.Asp819Glu
ENST00000378163.5:c.2508C>A	ENSP00000367405.1:p.Asp836Glu
ENST00000378166.8:c.2493C>A	ENSP00000367408.4:p.Asp831Glu
ENST00000378168.6:c.873C>A	ENSP00000367410.2:p.Asp291Glu
ENST00000378179.7:c.1284C>A	ENSP00000367421.3:p.Asp428Glu
ENST00000421587.6:c.2421C>A	ENSP00000400526.2:p.Asp807Glu
ENST00000442742.6:c.2424C>A	ENSP00000398007.2:p.Asp808Glu
NM_001126054.2:c.2424C>A	NP_001119526.1:p.Asp808Glu
NM_001126055.2:c.2421C>A	NP_001119527.1:p.Asp807Glu
NM_003688.3:c.2493C>A	NP_003679.2:p.Asp831Glu
XM_005272686.3:c.2490C>A	XP_005272743.1:p.Asp830Glu
XM_006724566.2:c.2385C>A	XP_006724629.1:p.Asp795Glu
XM_011543993.1:c.2508C>A	XP_011542295.1:p.Asp836Glu
XM_011543994.1:c.2472C>A	XP_011542296.1:p.Asp824Glu
XM_011543995.1:c.2439C>A	XP_011542297.1:p.Asp813Glu
XM_011543996.1:c.2403C>A	XP_011542298.1:p.Asp801Glu
XM_011543997.1:c.1935C>A	XP_011542299.1:p.Asp645Glu
XM_005272686.4:c.2490C>A	XP_005272743.1:p.Asp830Glu
XM_006724566.3:c.2385C>A	XP_006724629.1:p.Asp795Glu
XM_011543993.2:c.2508C>A	XP_011542295.1:p.Asp836Glu
XM_011543994.2:c.2472C>A	XP_011542296.1:p.Asp824Glu
XM_011543995.2:c.2439C>A	XP_011542297.1:p.Asp813Glu
XM_011543996.2:c.2403C>A	XP_011542298.1:p.Asp801Glu
XM_011543997.3:c.1935C>A	XP_011542299.1:p.Asp645Glu
XM_024452473.1:c.1830C>A	XP_024308241.1:p.Asp610Glu
NM_001367721.1:c.2508C>A MANE Select	NP_001354650.1:p.Asp836Glu