Canonical Allele Identifier: CA412990088

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390312A>G (hg19) ; chrX:g.41531059A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531059A>G , CM000685.2:g.41531059A>G	GRCh38
NC_000023.10:g.41390312A>G , CM000685.1:g.41390312A>G	GRCh37
NC_000023.9:g.41275256A>G	NCBI36
NG_016754.1:g.396976T>C
NG_016754.2:g.396976T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2417T>C	ENSP00000367396.2:p.Ile806Thr
ENST00000378158.6:c.2414T>C	ENSP00000367400.2:p.Ile805Thr
ENST00000378163.7:c.2468T>C MANE Select	ENSP00000367405.1:p.Ile823Thr
ENST00000378166.9:c.2366T>C	ENSP00000367408.5:p.Ile789Thr
ENST00000378168.8:c.2471T>C	ENSP00000367410.4:p.Ile824Thr
ENST00000378179.9:c.1088T>C	ENSP00000367421.4:p.Ile363Thr
ENST00000421587.8:c.2399T>C	ENSP00000400526.4:p.Ile800Thr
ENST00000442742.7:c.2330T>C	ENSP00000398007.3:p.Ile777Thr
ENST00000642499.1:n.1247T>C
ENST00000643733.1:c.240T>C
ENST00000644219.1:c.2450T>C	ENSP00000495357.1:p.Ile817Thr
ENST00000644347.1:c.2381T>C	ENSP00000494183.1:p.Ile794Thr
ENST00000645566.1:c.2453T>C	ENSP00000494788.1:p.Ile818Thr
ENST00000645937.2:n.2699T>C
ENST00000645986.2:c.2435T>C	ENSP00000494409.2:p.Ile812Thr
ENST00000646087.2:c.1790T>C	ENSP00000495510.2:p.Ile597Thr
ENST00000646120.2:c.2384T>C	ENSP00000495291.2:p.Ile795Thr
ENST00000675354.1:c.2402T>C	ENSP00000502315.1:p.Ile801Thr
ENST00000378158.5:c.2417T>C	ENSP00000367400.1:p.Ile806Thr
ENST00000378163.5:c.2468T>C	ENSP00000367405.1:p.Ile823Thr
ENST00000378166.8:c.2453T>C	ENSP00000367408.4:p.Ile818Thr
ENST00000378168.6:c.833T>C	ENSP00000367410.2:p.Ile278Thr
ENST00000378179.7:c.1244T>C	ENSP00000367421.3:p.Ile415Thr
ENST00000421587.6:c.2381T>C	ENSP00000400526.2:p.Ile794Thr
ENST00000442742.6:c.2384T>C	ENSP00000398007.2:p.Ile795Thr
NM_001126054.2:c.2384T>C	NP_001119526.1:p.Ile795Thr
NM_001126055.2:c.2381T>C	NP_001119527.1:p.Ile794Thr
NM_003688.3:c.2453T>C	NP_003679.2:p.Ile818Thr
XM_005272686.3:c.2450T>C	XP_005272743.1:p.Ile817Thr
XM_006724566.2:c.2345T>C	XP_006724629.1:p.Ile782Thr
XM_011543993.1:c.2468T>C	XP_011542295.1:p.Ile823Thr
XM_011543994.1:c.2432T>C	XP_011542296.1:p.Ile811Thr
XM_011543995.1:c.2399T>C	XP_011542297.1:p.Ile800Thr
XM_011543996.1:c.2363T>C	XP_011542298.1:p.Ile788Thr
XM_011543997.1:c.1895T>C	XP_011542299.1:p.Ile632Thr
XM_005272686.4:c.2450T>C	XP_005272743.1:p.Ile817Thr
XM_006724566.3:c.2345T>C	XP_006724629.1:p.Ile782Thr
XM_011543993.2:c.2468T>C	XP_011542295.1:p.Ile823Thr
XM_011543994.2:c.2432T>C	XP_011542296.1:p.Ile811Thr
XM_011543995.2:c.2399T>C	XP_011542297.1:p.Ile800Thr
XM_011543996.2:c.2363T>C	XP_011542298.1:p.Ile788Thr
XM_011543997.3:c.1895T>C	XP_011542299.1:p.Ile632Thr
XM_024452473.1:c.1790T>C	XP_024308241.1:p.Ile597Thr
NM_001367721.1:c.2468T>C MANE Select	NP_001354650.1:p.Ile823Thr