Canonical Allele Identifier: CA412989958

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390276A>C (hg19) ; chrX:g.41531023A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531023A>C , CM000685.2:g.41531023A>C	GRCh38
NC_000023.10:g.41390276A>C , CM000685.1:g.41390276A>C	GRCh37
NC_000023.9:g.41275220A>C	NCBI36
NG_016754.1:g.397012T>G
NG_016754.2:g.397012T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2453T>G	ENSP00000367396.2:p.Leu818Arg
ENST00000378158.6:c.2450T>G	ENSP00000367400.2:p.Leu817Arg
ENST00000378163.7:c.2504T>G MANE Select	ENSP00000367405.1:p.Leu835Arg
ENST00000378166.9:c.2402T>G	ENSP00000367408.5:p.Leu801Arg
ENST00000378168.8:c.2507T>G	ENSP00000367410.4:p.Leu836Arg
ENST00000378179.9:c.1124T>G	ENSP00000367421.4:p.Leu375Arg
ENST00000421587.8:c.2435T>G	ENSP00000400526.4:p.Leu812Arg
ENST00000442742.7:c.2366T>G	ENSP00000398007.3:p.Leu789Arg
ENST00000642499.1:n.1283T>G
ENST00000643733.1:c.276T>G
ENST00000644219.1:c.2486T>G	ENSP00000495357.1:p.Leu829Arg
ENST00000644347.1:c.2417T>G	ENSP00000494183.1:p.Leu806Arg
ENST00000645566.1:c.2489T>G	ENSP00000494788.1:p.Leu830Arg
ENST00000645937.2:n.2735T>G
ENST00000645986.2:c.2471T>G	ENSP00000494409.2:p.Leu824Arg
ENST00000646087.2:c.1826T>G	ENSP00000495510.2:p.Leu609Arg
ENST00000646120.2:c.2420T>G	ENSP00000495291.2:p.Leu807Arg
ENST00000675354.1:c.2438T>G	ENSP00000502315.1:p.Leu813Arg
ENST00000378158.5:c.2453T>G	ENSP00000367400.1:p.Leu818Arg
ENST00000378163.5:c.2504T>G	ENSP00000367405.1:p.Leu835Arg
ENST00000378166.8:c.2489T>G	ENSP00000367408.4:p.Leu830Arg
ENST00000378168.6:c.869T>G	ENSP00000367410.2:p.Leu290Arg
ENST00000378179.7:c.1280T>G	ENSP00000367421.3:p.Leu427Arg
ENST00000421587.6:c.2417T>G	ENSP00000400526.2:p.Leu806Arg
ENST00000442742.6:c.2420T>G	ENSP00000398007.2:p.Leu807Arg
NM_001126054.2:c.2420T>G	NP_001119526.1:p.Leu807Arg
NM_001126055.2:c.2417T>G	NP_001119527.1:p.Leu806Arg
NM_003688.3:c.2489T>G	NP_003679.2:p.Leu830Arg
XM_005272686.3:c.2486T>G	XP_005272743.1:p.Leu829Arg
XM_006724566.2:c.2381T>G	XP_006724629.1:p.Leu794Arg
XM_011543993.1:c.2504T>G	XP_011542295.1:p.Leu835Arg
XM_011543994.1:c.2468T>G	XP_011542296.1:p.Leu823Arg
XM_011543995.1:c.2435T>G	XP_011542297.1:p.Leu812Arg
XM_011543996.1:c.2399T>G	XP_011542298.1:p.Leu800Arg
XM_011543997.1:c.1931T>G	XP_011542299.1:p.Leu644Arg
XM_005272686.4:c.2486T>G	XP_005272743.1:p.Leu829Arg
XM_006724566.3:c.2381T>G	XP_006724629.1:p.Leu794Arg
XM_011543993.2:c.2504T>G	XP_011542295.1:p.Leu835Arg
XM_011543994.2:c.2468T>G	XP_011542296.1:p.Leu823Arg
XM_011543995.2:c.2435T>G	XP_011542297.1:p.Leu812Arg
XM_011543996.2:c.2399T>G	XP_011542298.1:p.Leu800Arg
XM_011543997.3:c.1931T>G	XP_011542299.1:p.Leu644Arg
XM_024452473.1:c.1826T>G	XP_024308241.1:p.Leu609Arg
NM_001367721.1:c.2504T>G MANE Select	NP_001354650.1:p.Leu835Arg