Canonical Allele Identifier: CA412990159

Gene: CASK

Linked Data

• ClinVar Variation Id: 2766122
• ClinVar RCV Id: RCV003512622
• MyVariant Identifiers: chrX:g.41390331C>T (hg19) ; chrX:g.41531078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531078C>T , CM000685.2:g.41531078C>T	GRCh38
NC_000023.10:g.41390331C>T , CM000685.1:g.41390331C>T	GRCh37
NC_000023.9:g.41275275C>T	NCBI36
NG_016754.1:g.396957G>A
NG_016754.2:g.396957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2398G>A	ENSP00000367396.2:p.Gly800Arg
ENST00000378158.6:c.2395G>A	ENSP00000367400.2:p.Gly799Arg
ENST00000378163.7:c.2449G>A MANE Select	ENSP00000367405.1:p.Gly817Arg
ENST00000378166.9:c.2347G>A	ENSP00000367408.5:p.Gly783Arg
ENST00000378168.8:c.2452G>A	ENSP00000367410.4:p.Gly818Arg
ENST00000378179.9:c.1069G>A	ENSP00000367421.4:p.Gly357Arg
ENST00000421587.8:c.2380G>A	ENSP00000400526.4:p.Gly794Arg
ENST00000442742.7:c.2311G>A	ENSP00000398007.3:p.Gly771Arg
ENST00000642499.1:n.1228G>A
ENST00000643733.1:c.221G>A
ENST00000644219.1:c.2431G>A	ENSP00000495357.1:p.Gly811Arg
ENST00000644347.1:c.2362G>A	ENSP00000494183.1:p.Gly788Arg
ENST00000645566.1:c.2434G>A	ENSP00000494788.1:p.Gly812Arg
ENST00000645937.2:n.2680G>A
ENST00000645986.2:c.2416G>A	ENSP00000494409.2:p.Gly806Arg
ENST00000646087.2:c.1771G>A	ENSP00000495510.2:p.Gly591Arg
ENST00000646120.2:c.2365G>A	ENSP00000495291.2:p.Gly789Arg
ENST00000675354.1:c.2383G>A	ENSP00000502315.1:p.Gly795Arg
ENST00000378158.5:c.2398G>A	ENSP00000367400.1:p.Gly800Arg
ENST00000378163.5:c.2449G>A	ENSP00000367405.1:p.Gly817Arg
ENST00000378166.8:c.2434G>A	ENSP00000367408.4:p.Gly812Arg
ENST00000378168.6:c.814G>A	ENSP00000367410.2:p.Gly272Arg
ENST00000378179.7:c.1225G>A	ENSP00000367421.3:p.Gly409Arg
ENST00000421587.6:c.2362G>A	ENSP00000400526.2:p.Gly788Arg
ENST00000442742.6:c.2365G>A	ENSP00000398007.2:p.Gly789Arg
NM_001126054.2:c.2365G>A	NP_001119526.1:p.Gly789Arg
NM_001126055.2:c.2362G>A	NP_001119527.1:p.Gly788Arg
NM_003688.3:c.2434G>A	NP_003679.2:p.Gly812Arg
XM_005272686.3:c.2431G>A	XP_005272743.1:p.Gly811Arg
XM_006724566.2:c.2326G>A	XP_006724629.1:p.Gly776Arg
XM_011543993.1:c.2449G>A	XP_011542295.1:p.Gly817Arg
XM_011543994.1:c.2413G>A	XP_011542296.1:p.Gly805Arg
XM_011543995.1:c.2380G>A	XP_011542297.1:p.Gly794Arg
XM_011543996.1:c.2344G>A	XP_011542298.1:p.Gly782Arg
XM_011543997.1:c.1876G>A	XP_011542299.1:p.Gly626Arg
XM_005272686.4:c.2431G>A	XP_005272743.1:p.Gly811Arg
XM_006724566.3:c.2326G>A	XP_006724629.1:p.Gly776Arg
XM_011543993.2:c.2449G>A	XP_011542295.1:p.Gly817Arg
XM_011543994.2:c.2413G>A	XP_011542296.1:p.Gly805Arg
XM_011543995.2:c.2380G>A	XP_011542297.1:p.Gly794Arg
XM_011543996.2:c.2344G>A	XP_011542298.1:p.Gly782Arg
XM_011543997.3:c.1876G>A	XP_011542299.1:p.Gly626Arg
XM_024452473.1:c.1771G>A	XP_024308241.1:p.Gly591Arg
NM_001367721.1:c.2449G>A MANE Select	NP_001354650.1:p.Gly817Arg