Canonical Allele Identifier: CA412994948

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41420841G>C (hg19) ; chrX:g.41561588G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41561588G>C , CM000685.2:g.41561588G>C	GRCh38
NC_000023.10:g.41420841G>C , CM000685.1:g.41420841G>C	GRCh37
NC_000023.9:g.41305785G>C	NCBI36
NG_016754.1:g.366447C>G
NG_016754.2:g.366447C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378154.3:c.1639C>G	ENSP00000367396.2:p.Gln547Glu
ENST00000378158.6:c.1621C>G	ENSP00000367400.2:p.Gln541Glu
ENST00000378163.7:c.1639C>G MANE Select	ENSP00000367405.1:p.Gln547Glu
ENST00000378166.9:c.1621C>G	ENSP00000367408.5:p.Gln541Glu
ENST00000378168.8:c.1657C>G	ENSP00000367410.4:p.Gln553Glu
ENST00000378179.9:c.328C>G	ENSP00000367421.4:p.Gln110Glu
ENST00000421587.8:c.1639C>G	ENSP00000400526.4:p.Gln547Glu
ENST00000442742.7:c.1621C>G	ENSP00000398007.3:p.Gln541Glu
ENST00000472704.3:n.250C>G
ENST00000642584.1:n.1295C>G
ENST00000643043.2:c.1084C>G	ENSP00000493518.2:p.Gln362Glu
ENST00000644219.1:c.1621C>G	ENSP00000495357.1:p.Gln541Glu
ENST00000644347.1:c.1621C>G	ENSP00000494183.1:p.Gln541Glu
ENST00000645566.1:c.1639C>G	ENSP00000494788.1:p.Gln547Glu
ENST00000645937.2:n.1939C>G
ENST00000645986.2:c.1621C>G	ENSP00000494409.2:p.Gln541Glu
ENST00000646087.2:c.1066C>G	ENSP00000495510.2:p.Gln356Glu
ENST00000646120.2:c.1639C>G	ENSP00000495291.2:p.Gln547Glu
ENST00000675354.1:c.1657C>G	ENSP00000502315.1:p.Gln553Glu
ENST00000378154.1:c.1639C>G	ENSP00000367396.1:p.Gln547Glu
ENST00000378158.5:c.1639C>G	ENSP00000367400.1:p.Gln547Glu
ENST00000378163.5:c.1639C>G	ENSP00000367405.1:p.Gln547Glu
ENST00000378166.8:c.1639C>G	ENSP00000367408.4:p.Gln547Glu
ENST00000378168.6:c.40C>G	ENSP00000367410.2:p.Gln14Glu
ENST00000378179.7:c.484C>G	ENSP00000367421.3:p.Gln162Glu
ENST00000421587.6:c.1621C>G	ENSP00000400526.2:p.Gln541Glu
ENST00000442742.6:c.1639C>G	ENSP00000398007.2:p.Gln547Glu
ENST00000472704.1:n.250C>G
NM_001126054.2:c.1639C>G	NP_001119526.1:p.Gln547Glu
NM_001126055.2:c.1621C>G	NP_001119527.1:p.Gln541Glu
NM_003688.3:c.1639C>G	NP_003679.2:p.Gln547Glu
XM_005272686.3:c.1621C>G	XP_005272743.1:p.Gln541Glu
XM_006724566.2:c.1621C>G	XP_006724629.1:p.Gln541Glu
XM_011543993.1:c.1639C>G	XP_011542295.1:p.Gln547Glu
XM_011543994.1:c.1639C>G	XP_011542296.1:p.Gln547Glu
XM_011543995.1:c.1639C>G	XP_011542297.1:p.Gln547Glu
XM_011543996.1:c.1639C>G	XP_011542298.1:p.Gln547Glu
XM_011543997.1:c.1066C>G	XP_011542299.1:p.Gln356Glu
XM_005272686.4:c.1621C>G	XP_005272743.1:p.Gln541Glu
XM_006724566.3:c.1621C>G	XP_006724629.1:p.Gln541Glu
XM_011543993.2:c.1639C>G	XP_011542295.1:p.Gln547Glu
XM_011543994.2:c.1639C>G	XP_011542296.1:p.Gln547Glu
XM_011543995.2:c.1639C>G	XP_011542297.1:p.Gln547Glu
XM_011543996.2:c.1639C>G	XP_011542298.1:p.Gln547Glu
XM_011543997.3:c.1066C>G	XP_011542299.1:p.Gln356Glu
XM_024452473.1:c.1066C>G	XP_024308241.1:p.Gln356Glu
NM_001367721.1:c.1639C>G MANE Select	NP_001354650.1:p.Gln547Glu