Canonical Allele Identifier: CA412990073

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390307T>A (hg19) ; chrX:g.41531054T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531054T>A , CM000685.2:g.41531054T>A	GRCh38
NC_000023.10:g.41390307T>A , CM000685.1:g.41390307T>A	GRCh37
NC_000023.9:g.41275251T>A	NCBI36
NG_016754.1:g.396981A>T
NG_016754.2:g.396981A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2422A>T	ENSP00000367396.2:p.Lys808Ter
ENST00000378158.6:c.2419A>T	ENSP00000367400.2:p.Lys807Ter
ENST00000378163.7:c.2473A>T MANE Select	ENSP00000367405.1:p.Lys825Ter
ENST00000378166.9:c.2371A>T	ENSP00000367408.5:p.Lys791Ter
ENST00000378168.8:c.2476A>T	ENSP00000367410.4:p.Lys826Ter
ENST00000378179.9:c.1093A>T	ENSP00000367421.4:p.Lys365Ter
ENST00000421587.8:c.2404A>T	ENSP00000400526.4:p.Lys802Ter
ENST00000442742.7:c.2335A>T	ENSP00000398007.3:p.Lys779Ter
ENST00000642499.1:n.1252A>T
ENST00000643733.1:c.245A>T
ENST00000644219.1:c.2455A>T	ENSP00000495357.1:p.Lys819Ter
ENST00000644347.1:c.2386A>T	ENSP00000494183.1:p.Lys796Ter
ENST00000645566.1:c.2458A>T	ENSP00000494788.1:p.Lys820Ter
ENST00000645937.2:n.2704A>T
ENST00000645986.2:c.2440A>T	ENSP00000494409.2:p.Lys814Ter
ENST00000646087.2:c.1795A>T	ENSP00000495510.2:p.Lys599Ter
ENST00000646120.2:c.2389A>T	ENSP00000495291.2:p.Lys797Ter
ENST00000675354.1:c.2407A>T	ENSP00000502315.1:p.Lys803Ter
ENST00000378158.5:c.2422A>T	ENSP00000367400.1:p.Lys808Ter
ENST00000378163.5:c.2473A>T	ENSP00000367405.1:p.Lys825Ter
ENST00000378166.8:c.2458A>T	ENSP00000367408.4:p.Lys820Ter
ENST00000378168.6:c.838A>T	ENSP00000367410.2:p.Lys280Ter
ENST00000378179.7:c.1249A>T	ENSP00000367421.3:p.Lys417Ter
ENST00000421587.6:c.2386A>T	ENSP00000400526.2:p.Lys796Ter
ENST00000442742.6:c.2389A>T	ENSP00000398007.2:p.Lys797Ter
NM_001126054.2:c.2389A>T	NP_001119526.1:p.Lys797Ter
NM_001126055.2:c.2386A>T	NP_001119527.1:p.Lys796Ter
NM_003688.3:c.2458A>T	NP_003679.2:p.Lys820Ter
XM_005272686.3:c.2455A>T	XP_005272743.1:p.Lys819Ter
XM_006724566.2:c.2350A>T	XP_006724629.1:p.Lys784Ter
XM_011543993.1:c.2473A>T	XP_011542295.1:p.Lys825Ter
XM_011543994.1:c.2437A>T	XP_011542296.1:p.Lys813Ter
XM_011543995.1:c.2404A>T	XP_011542297.1:p.Lys802Ter
XM_011543996.1:c.2368A>T	XP_011542298.1:p.Lys790Ter
XM_011543997.1:c.1900A>T	XP_011542299.1:p.Lys634Ter
XM_005272686.4:c.2455A>T	XP_005272743.1:p.Lys819Ter
XM_006724566.3:c.2350A>T	XP_006724629.1:p.Lys784Ter
XM_011543993.2:c.2473A>T	XP_011542295.1:p.Lys825Ter
XM_011543994.2:c.2437A>T	XP_011542296.1:p.Lys813Ter
XM_011543995.2:c.2404A>T	XP_011542297.1:p.Lys802Ter
XM_011543996.2:c.2368A>T	XP_011542298.1:p.Lys790Ter
XM_011543997.3:c.1900A>T	XP_011542299.1:p.Lys634Ter
XM_024452473.1:c.1795A>T	XP_024308241.1:p.Lys599Ter
NM_001367721.1:c.2473A>T MANE Select	NP_001354650.1:p.Lys825Ter