Canonical Allele Identifier: CA412990023

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390294T>A (hg19) ; chrX:g.41531041T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531041T>A , CM000685.2:g.41531041T>A	GRCh38
NC_000023.10:g.41390294T>A , CM000685.1:g.41390294T>A	GRCh37
NC_000023.9:g.41275238T>A	NCBI36
NG_016754.1:g.396994A>T
NG_016754.2:g.396994A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2435A>T	ENSP00000367396.2:p.Gln812Leu
ENST00000378158.6:c.2432A>T	ENSP00000367400.2:p.Gln811Leu
ENST00000378163.7:c.2486A>T MANE Select	ENSP00000367405.1:p.Gln829Leu
ENST00000378166.9:c.2384A>T	ENSP00000367408.5:p.Gln795Leu
ENST00000378168.8:c.2489A>T	ENSP00000367410.4:p.Gln830Leu
ENST00000378179.9:c.1106A>T	ENSP00000367421.4:p.Gln369Leu
ENST00000421587.8:c.2417A>T	ENSP00000400526.4:p.Gln806Leu
ENST00000442742.7:c.2348A>T	ENSP00000398007.3:p.Gln783Leu
ENST00000642499.1:n.1265A>T
ENST00000643733.1:c.258A>T
ENST00000644219.1:c.2468A>T	ENSP00000495357.1:p.Gln823Leu
ENST00000644347.1:c.2399A>T	ENSP00000494183.1:p.Gln800Leu
ENST00000645566.1:c.2471A>T	ENSP00000494788.1:p.Gln824Leu
ENST00000645937.2:n.2717A>T
ENST00000645986.2:c.2453A>T	ENSP00000494409.2:p.Gln818Leu
ENST00000646087.2:c.1808A>T	ENSP00000495510.2:p.Gln603Leu
ENST00000646120.2:c.2402A>T	ENSP00000495291.2:p.Gln801Leu
ENST00000675354.1:c.2420A>T	ENSP00000502315.1:p.Gln807Leu
ENST00000378158.5:c.2435A>T	ENSP00000367400.1:p.Gln812Leu
ENST00000378163.5:c.2486A>T	ENSP00000367405.1:p.Gln829Leu
ENST00000378166.8:c.2471A>T	ENSP00000367408.4:p.Gln824Leu
ENST00000378168.6:c.851A>T	ENSP00000367410.2:p.Gln284Leu
ENST00000378179.7:c.1262A>T	ENSP00000367421.3:p.Gln421Leu
ENST00000421587.6:c.2399A>T	ENSP00000400526.2:p.Gln800Leu
ENST00000442742.6:c.2402A>T	ENSP00000398007.2:p.Gln801Leu
NM_001126054.2:c.2402A>T	NP_001119526.1:p.Gln801Leu
NM_001126055.2:c.2399A>T	NP_001119527.1:p.Gln800Leu
NM_003688.3:c.2471A>T	NP_003679.2:p.Gln824Leu
XM_005272686.3:c.2468A>T	XP_005272743.1:p.Gln823Leu
XM_006724566.2:c.2363A>T	XP_006724629.1:p.Gln788Leu
XM_011543993.1:c.2486A>T	XP_011542295.1:p.Gln829Leu
XM_011543994.1:c.2450A>T	XP_011542296.1:p.Gln817Leu
XM_011543995.1:c.2417A>T	XP_011542297.1:p.Gln806Leu
XM_011543996.1:c.2381A>T	XP_011542298.1:p.Gln794Leu
XM_011543997.1:c.1913A>T	XP_011542299.1:p.Gln638Leu
XM_005272686.4:c.2468A>T	XP_005272743.1:p.Gln823Leu
XM_006724566.3:c.2363A>T	XP_006724629.1:p.Gln788Leu
XM_011543993.2:c.2486A>T	XP_011542295.1:p.Gln829Leu
XM_011543994.2:c.2450A>T	XP_011542296.1:p.Gln817Leu
XM_011543995.2:c.2417A>T	XP_011542297.1:p.Gln806Leu
XM_011543996.2:c.2381A>T	XP_011542298.1:p.Gln794Leu
XM_011543997.3:c.1913A>T	XP_011542299.1:p.Gln638Leu
XM_024452473.1:c.1808A>T	XP_024308241.1:p.Gln603Leu
NM_001367721.1:c.2486A>T MANE Select	NP_001354650.1:p.Gln829Leu