Canonical Allele Identifier: CA412990427

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390396T>G (hg19) ; chrX:g.41531143T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531143T>G , CM000685.2:g.41531143T>G	GRCh38
NC_000023.10:g.41390396T>G , CM000685.1:g.41390396T>G	GRCh37
NC_000023.9:g.41275340T>G	NCBI36
NG_016754.1:g.396892A>C
NG_016754.2:g.396892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2333A>C	ENSP00000367396.2:p.Gln778Pro
ENST00000378158.6:c.2330A>C	ENSP00000367400.2:p.Gln777Pro
ENST00000378163.7:c.2384A>C MANE Select	ENSP00000367405.1:p.Gln795Pro
ENST00000378166.9:c.2282A>C	ENSP00000367408.5:p.Gln761Pro
ENST00000378168.8:c.2387A>C	ENSP00000367410.4:p.Gln796Pro
ENST00000378179.9:c.1004A>C	ENSP00000367421.4:p.Gln335Pro
ENST00000421587.8:c.2315A>C	ENSP00000400526.4:p.Gln772Pro
ENST00000442742.7:c.2246A>C	ENSP00000398007.3:p.Gln749Pro
ENST00000642499.1:n.1163A>C
ENST00000643733.1:c.156A>C
ENST00000644219.1:c.2366A>C	ENSP00000495357.1:p.Gln789Pro
ENST00000644347.1:c.2297A>C	ENSP00000494183.1:p.Gln766Pro
ENST00000645566.1:c.2369A>C	ENSP00000494788.1:p.Gln790Pro
ENST00000645937.2:n.2615A>C
ENST00000645986.2:c.2351A>C	ENSP00000494409.2:p.Gln784Pro
ENST00000646087.2:c.1706A>C	ENSP00000495510.2:p.Gln569Pro
ENST00000646120.2:c.2300A>C	ENSP00000495291.2:p.Gln767Pro
ENST00000675354.1:c.2318A>C	ENSP00000502315.1:p.Gln773Pro
ENST00000378158.5:c.2333A>C	ENSP00000367400.1:p.Gln778Pro
ENST00000378163.5:c.2384A>C	ENSP00000367405.1:p.Gln795Pro
ENST00000378166.8:c.2369A>C	ENSP00000367408.4:p.Gln790Pro
ENST00000378168.6:c.749A>C	ENSP00000367410.2:p.Gln250Pro
ENST00000378179.7:c.1160A>C	ENSP00000367421.3:p.Gln387Pro
ENST00000421587.6:c.2297A>C	ENSP00000400526.2:p.Gln766Pro
ENST00000442742.6:c.2300A>C	ENSP00000398007.2:p.Gln767Pro
NM_001126054.2:c.2300A>C	NP_001119526.1:p.Gln767Pro
NM_001126055.2:c.2297A>C	NP_001119527.1:p.Gln766Pro
NM_003688.3:c.2369A>C	NP_003679.2:p.Gln790Pro
XM_005272686.3:c.2366A>C	XP_005272743.1:p.Gln789Pro
XM_006724566.2:c.2261A>C	XP_006724629.1:p.Gln754Pro
XM_011543993.1:c.2384A>C	XP_011542295.1:p.Gln795Pro
XM_011543994.1:c.2348A>C	XP_011542296.1:p.Gln783Pro
XM_011543995.1:c.2315A>C	XP_011542297.1:p.Gln772Pro
XM_011543996.1:c.2279A>C	XP_011542298.1:p.Gln760Pro
XM_011543997.1:c.1811A>C	XP_011542299.1:p.Gln604Pro
XM_005272686.4:c.2366A>C	XP_005272743.1:p.Gln789Pro
XM_006724566.3:c.2261A>C	XP_006724629.1:p.Gln754Pro
XM_011543993.2:c.2384A>C	XP_011542295.1:p.Gln795Pro
XM_011543994.2:c.2348A>C	XP_011542296.1:p.Gln783Pro
XM_011543995.2:c.2315A>C	XP_011542297.1:p.Gln772Pro
XM_011543996.2:c.2279A>C	XP_011542298.1:p.Gln760Pro
XM_011543997.3:c.1811A>C	XP_011542299.1:p.Gln604Pro
XM_024452473.1:c.1706A>C	XP_024308241.1:p.Gln569Pro
NM_001367721.1:c.2384A>C MANE Select	NP_001354650.1:p.Gln795Pro