Canonical Allele Identifier: CA412990140

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390325T>G (hg19) ; chrX:g.41531072T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531072T>G , CM000685.2:g.41531072T>G	GRCh38
NC_000023.10:g.41390325T>G , CM000685.1:g.41390325T>G	GRCh37
NC_000023.9:g.41275269T>G	NCBI36
NG_016754.1:g.396963A>C
NG_016754.2:g.396963A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2404A>C	ENSP00000367396.2:p.Lys802Gln
ENST00000378158.6:c.2401A>C	ENSP00000367400.2:p.Lys801Gln
ENST00000378163.7:c.2455A>C MANE Select	ENSP00000367405.1:p.Lys819Gln
ENST00000378166.9:c.2353A>C	ENSP00000367408.5:p.Lys785Gln
ENST00000378168.8:c.2458A>C	ENSP00000367410.4:p.Lys820Gln
ENST00000378179.9:c.1075A>C	ENSP00000367421.4:p.Lys359Gln
ENST00000421587.8:c.2386A>C	ENSP00000400526.4:p.Lys796Gln
ENST00000442742.7:c.2317A>C	ENSP00000398007.3:p.Lys773Gln
ENST00000642499.1:n.1234A>C
ENST00000643733.1:c.227A>C
ENST00000644219.1:c.2437A>C	ENSP00000495357.1:p.Lys813Gln
ENST00000644347.1:c.2368A>C	ENSP00000494183.1:p.Lys790Gln
ENST00000645566.1:c.2440A>C	ENSP00000494788.1:p.Lys814Gln
ENST00000645937.2:n.2686A>C
ENST00000645986.2:c.2422A>C	ENSP00000494409.2:p.Lys808Gln
ENST00000646087.2:c.1777A>C	ENSP00000495510.2:p.Lys593Gln
ENST00000646120.2:c.2371A>C	ENSP00000495291.2:p.Lys791Gln
ENST00000675354.1:c.2389A>C	ENSP00000502315.1:p.Lys797Gln
ENST00000378158.5:c.2404A>C	ENSP00000367400.1:p.Lys802Gln
ENST00000378163.5:c.2455A>C	ENSP00000367405.1:p.Lys819Gln
ENST00000378166.8:c.2440A>C	ENSP00000367408.4:p.Lys814Gln
ENST00000378168.6:c.820A>C	ENSP00000367410.2:p.Lys274Gln
ENST00000378179.7:c.1231A>C	ENSP00000367421.3:p.Lys411Gln
ENST00000421587.6:c.2368A>C	ENSP00000400526.2:p.Lys790Gln
ENST00000442742.6:c.2371A>C	ENSP00000398007.2:p.Lys791Gln
NM_001126054.2:c.2371A>C	NP_001119526.1:p.Lys791Gln
NM_001126055.2:c.2368A>C	NP_001119527.1:p.Lys790Gln
NM_003688.3:c.2440A>C	NP_003679.2:p.Lys814Gln
XM_005272686.3:c.2437A>C	XP_005272743.1:p.Lys813Gln
XM_006724566.2:c.2332A>C	XP_006724629.1:p.Lys778Gln
XM_011543993.1:c.2455A>C	XP_011542295.1:p.Lys819Gln
XM_011543994.1:c.2419A>C	XP_011542296.1:p.Lys807Gln
XM_011543995.1:c.2386A>C	XP_011542297.1:p.Lys796Gln
XM_011543996.1:c.2350A>C	XP_011542298.1:p.Lys784Gln
XM_011543997.1:c.1882A>C	XP_011542299.1:p.Lys628Gln
XM_005272686.4:c.2437A>C	XP_005272743.1:p.Lys813Gln
XM_006724566.3:c.2332A>C	XP_006724629.1:p.Lys778Gln
XM_011543993.2:c.2455A>C	XP_011542295.1:p.Lys819Gln
XM_011543994.2:c.2419A>C	XP_011542296.1:p.Lys807Gln
XM_011543995.2:c.2386A>C	XP_011542297.1:p.Lys796Gln
XM_011543996.2:c.2350A>C	XP_011542298.1:p.Lys784Gln
XM_011543997.3:c.1882A>C	XP_011542299.1:p.Lys628Gln
XM_024452473.1:c.1777A>C	XP_024308241.1:p.Lys593Gln
NM_001367721.1:c.2455A>C MANE Select	NP_001354650.1:p.Lys819Gln