Canonical Allele Identifier: CA412990638

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390442T>G (hg19) ; chrX:g.41531189T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531189T>G , CM000685.2:g.41531189T>G	GRCh38
NC_000023.10:g.41390442T>G , CM000685.1:g.41390442T>G	GRCh37
NC_000023.9:g.41275386T>G	NCBI36
NG_016754.1:g.396846A>C
NG_016754.2:g.396846A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2287A>C	ENSP00000367396.2:p.Lys763Gln
ENST00000378158.6:c.2284A>C	ENSP00000367400.2:p.Lys762Gln
ENST00000378163.7:c.2338A>C MANE Select	ENSP00000367405.1:p.Lys780Gln
ENST00000378166.9:c.2236A>C	ENSP00000367408.5:p.Lys746Gln
ENST00000378168.8:c.2341A>C	ENSP00000367410.4:p.Lys781Gln
ENST00000378179.9:c.958A>C	ENSP00000367421.4:p.Lys320Gln
ENST00000421587.8:c.2269A>C	ENSP00000400526.4:p.Lys757Gln
ENST00000442742.7:c.2200A>C	ENSP00000398007.3:p.Lys734Gln
ENST00000642499.1:n.1117A>C
ENST00000643733.1:c.110A>C
ENST00000644219.1:c.2320A>C	ENSP00000495357.1:p.Lys774Gln
ENST00000644347.1:c.2251A>C	ENSP00000494183.1:p.Lys751Gln
ENST00000645566.1:c.2323A>C	ENSP00000494788.1:p.Lys775Gln
ENST00000645937.2:n.2569A>C
ENST00000645986.2:c.2305A>C	ENSP00000494409.2:p.Lys769Gln
ENST00000646087.2:c.1660A>C	ENSP00000495510.2:p.Lys554Gln
ENST00000646120.2:c.2254A>C	ENSP00000495291.2:p.Lys752Gln
ENST00000675354.1:c.2272A>C	ENSP00000502315.1:p.Lys758Gln
ENST00000378158.5:c.2287A>C	ENSP00000367400.1:p.Lys763Gln
ENST00000378163.5:c.2338A>C	ENSP00000367405.1:p.Lys780Gln
ENST00000378166.8:c.2323A>C	ENSP00000367408.4:p.Lys775Gln
ENST00000378168.6:c.703A>C	ENSP00000367410.2:p.Lys235Gln
ENST00000378179.7:c.1114A>C	ENSP00000367421.3:p.Lys372Gln
ENST00000421587.6:c.2251A>C	ENSP00000400526.2:p.Lys751Gln
ENST00000442742.6:c.2254A>C	ENSP00000398007.2:p.Lys752Gln
NM_001126054.2:c.2254A>C	NP_001119526.1:p.Lys752Gln
NM_001126055.2:c.2251A>C	NP_001119527.1:p.Lys751Gln
NM_003688.3:c.2323A>C	NP_003679.2:p.Lys775Gln
XM_005272686.3:c.2320A>C	XP_005272743.1:p.Lys774Gln
XM_006724566.2:c.2215A>C	XP_006724629.1:p.Lys739Gln
XM_011543993.1:c.2338A>C	XP_011542295.1:p.Lys780Gln
XM_011543994.1:c.2302A>C	XP_011542296.1:p.Lys768Gln
XM_011543995.1:c.2269A>C	XP_011542297.1:p.Lys757Gln
XM_011543996.1:c.2233A>C	XP_011542298.1:p.Lys745Gln
XM_011543997.1:c.1765A>C	XP_011542299.1:p.Lys589Gln
XM_005272686.4:c.2320A>C	XP_005272743.1:p.Lys774Gln
XM_006724566.3:c.2215A>C	XP_006724629.1:p.Lys739Gln
XM_011543993.2:c.2338A>C	XP_011542295.1:p.Lys780Gln
XM_011543994.2:c.2302A>C	XP_011542296.1:p.Lys768Gln
XM_011543995.2:c.2269A>C	XP_011542297.1:p.Lys757Gln
XM_011543996.2:c.2233A>C	XP_011542298.1:p.Lys745Gln
XM_011543997.3:c.1765A>C	XP_011542299.1:p.Lys589Gln
XM_024452473.1:c.1660A>C	XP_024308241.1:p.Lys554Gln
NM_001367721.1:c.2338A>C MANE Select	NP_001354650.1:p.Lys780Gln