Canonical Allele Identifier: CA412989975

Gene: CASK

Linked Data

• gnomAD v4: X-41531027-T-C
• MyVariant Identifiers: chrX:g.41390280T>C (hg19) ; chrX:g.41531027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531027T>C , CM000685.2:g.41531027T>C	GRCh38
NC_000023.10:g.41390280T>C , CM000685.1:g.41390280T>C	GRCh37
NC_000023.9:g.41275224T>C	NCBI36
NG_016754.1:g.397008A>G
NG_016754.2:g.397008A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2449A>G	ENSP00000367396.2:p.Ile817Val
ENST00000378158.6:c.2446A>G	ENSP00000367400.2:p.Ile816Val
ENST00000378163.7:c.2500A>G MANE Select	ENSP00000367405.1:p.Ile834Val
ENST00000378166.9:c.2398A>G	ENSP00000367408.5:p.Ile800Val
ENST00000378168.8:c.2503A>G	ENSP00000367410.4:p.Ile835Val
ENST00000378179.9:c.1120A>G	ENSP00000367421.4:p.Ile374Val
ENST00000421587.8:c.2431A>G	ENSP00000400526.4:p.Ile811Val
ENST00000442742.7:c.2362A>G	ENSP00000398007.3:p.Ile788Val
ENST00000642499.1:n.1279A>G
ENST00000643733.1:c.272A>G
ENST00000644219.1:c.2482A>G	ENSP00000495357.1:p.Ile828Val
ENST00000644347.1:c.2413A>G	ENSP00000494183.1:p.Ile805Val
ENST00000645566.1:c.2485A>G	ENSP00000494788.1:p.Ile829Val
ENST00000645937.2:n.2731A>G
ENST00000645986.2:c.2467A>G	ENSP00000494409.2:p.Ile823Val
ENST00000646087.2:c.1822A>G	ENSP00000495510.2:p.Ile608Val
ENST00000646120.2:c.2416A>G	ENSP00000495291.2:p.Ile806Val
ENST00000675354.1:c.2434A>G	ENSP00000502315.1:p.Ile812Val
ENST00000378158.5:c.2449A>G	ENSP00000367400.1:p.Ile817Val
ENST00000378163.5:c.2500A>G	ENSP00000367405.1:p.Ile834Val
ENST00000378166.8:c.2485A>G	ENSP00000367408.4:p.Ile829Val
ENST00000378168.6:c.865A>G	ENSP00000367410.2:p.Ile289Val
ENST00000378179.7:c.1276A>G	ENSP00000367421.3:p.Ile426Val
ENST00000421587.6:c.2413A>G	ENSP00000400526.2:p.Ile805Val
ENST00000442742.6:c.2416A>G	ENSP00000398007.2:p.Ile806Val
NM_001126054.2:c.2416A>G	NP_001119526.1:p.Ile806Val
NM_001126055.2:c.2413A>G	NP_001119527.1:p.Ile805Val
NM_003688.3:c.2485A>G	NP_003679.2:p.Ile829Val
XM_005272686.3:c.2482A>G	XP_005272743.1:p.Ile828Val
XM_006724566.2:c.2377A>G	XP_006724629.1:p.Ile793Val
XM_011543993.1:c.2500A>G	XP_011542295.1:p.Ile834Val
XM_011543994.1:c.2464A>G	XP_011542296.1:p.Ile822Val
XM_011543995.1:c.2431A>G	XP_011542297.1:p.Ile811Val
XM_011543996.1:c.2395A>G	XP_011542298.1:p.Ile799Val
XM_011543997.1:c.1927A>G	XP_011542299.1:p.Ile643Val
XM_005272686.4:c.2482A>G	XP_005272743.1:p.Ile828Val
XM_006724566.3:c.2377A>G	XP_006724629.1:p.Ile793Val
XM_011543993.2:c.2500A>G	XP_011542295.1:p.Ile834Val
XM_011543994.2:c.2464A>G	XP_011542296.1:p.Ile822Val
XM_011543995.2:c.2431A>G	XP_011542297.1:p.Ile811Val
XM_011543996.2:c.2395A>G	XP_011542298.1:p.Ile799Val
XM_011543997.3:c.1927A>G	XP_011542299.1:p.Ile643Val
XM_024452473.1:c.1822A>G	XP_024308241.1:p.Ile608Val
NM_001367721.1:c.2500A>G MANE Select	NP_001354650.1:p.Ile834Val