Canonical Allele Identifier: CA412990628

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390440T>A (hg19) ; chrX:g.41531187T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531187T>A , CM000685.2:g.41531187T>A	GRCh38
NC_000023.10:g.41390440T>A , CM000685.1:g.41390440T>A	GRCh37
NC_000023.9:g.41275384T>A	NCBI36
NG_016754.1:g.396848A>T
NG_016754.2:g.396848A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2289A>T	ENSP00000367396.2:p.Lys763Asn
ENST00000378158.6:c.2286A>T	ENSP00000367400.2:p.Lys762Asn
ENST00000378163.7:c.2340A>T MANE Select	ENSP00000367405.1:p.Lys780Asn
ENST00000378166.9:c.2238A>T	ENSP00000367408.5:p.Lys746Asn
ENST00000378168.8:c.2343A>T	ENSP00000367410.4:p.Lys781Asn
ENST00000378179.9:c.960A>T	ENSP00000367421.4:p.Lys320Asn
ENST00000421587.8:c.2271A>T	ENSP00000400526.4:p.Lys757Asn
ENST00000442742.7:c.2202A>T	ENSP00000398007.3:p.Lys734Asn
ENST00000642499.1:n.1119A>T
ENST00000643733.1:c.112A>T
ENST00000644219.1:c.2322A>T	ENSP00000495357.1:p.Lys774Asn
ENST00000644347.1:c.2253A>T	ENSP00000494183.1:p.Lys751Asn
ENST00000645566.1:c.2325A>T	ENSP00000494788.1:p.Lys775Asn
ENST00000645937.2:n.2571A>T
ENST00000645986.2:c.2307A>T	ENSP00000494409.2:p.Lys769Asn
ENST00000646087.2:c.1662A>T	ENSP00000495510.2:p.Lys554Asn
ENST00000646120.2:c.2256A>T	ENSP00000495291.2:p.Lys752Asn
ENST00000675354.1:c.2274A>T	ENSP00000502315.1:p.Lys758Asn
ENST00000378158.5:c.2289A>T	ENSP00000367400.1:p.Lys763Asn
ENST00000378163.5:c.2340A>T	ENSP00000367405.1:p.Lys780Asn
ENST00000378166.8:c.2325A>T	ENSP00000367408.4:p.Lys775Asn
ENST00000378168.6:c.705A>T	ENSP00000367410.2:p.Lys235Asn
ENST00000378179.7:c.1116A>T	ENSP00000367421.3:p.Lys372Asn
ENST00000421587.6:c.2253A>T	ENSP00000400526.2:p.Lys751Asn
ENST00000442742.6:c.2256A>T	ENSP00000398007.2:p.Lys752Asn
NM_001126054.2:c.2256A>T	NP_001119526.1:p.Lys752Asn
NM_001126055.2:c.2253A>T	NP_001119527.1:p.Lys751Asn
NM_003688.3:c.2325A>T	NP_003679.2:p.Lys775Asn
XM_005272686.3:c.2322A>T	XP_005272743.1:p.Lys774Asn
XM_006724566.2:c.2217A>T	XP_006724629.1:p.Lys739Asn
XM_011543993.1:c.2340A>T	XP_011542295.1:p.Lys780Asn
XM_011543994.1:c.2304A>T	XP_011542296.1:p.Lys768Asn
XM_011543995.1:c.2271A>T	XP_011542297.1:p.Lys757Asn
XM_011543996.1:c.2235A>T	XP_011542298.1:p.Lys745Asn
XM_011543997.1:c.1767A>T	XP_011542299.1:p.Lys589Asn
XM_005272686.4:c.2322A>T	XP_005272743.1:p.Lys774Asn
XM_006724566.3:c.2217A>T	XP_006724629.1:p.Lys739Asn
XM_011543993.2:c.2340A>T	XP_011542295.1:p.Lys780Asn
XM_011543994.2:c.2304A>T	XP_011542296.1:p.Lys768Asn
XM_011543995.2:c.2271A>T	XP_011542297.1:p.Lys757Asn
XM_011543996.2:c.2235A>T	XP_011542298.1:p.Lys745Asn
XM_011543997.3:c.1767A>T	XP_011542299.1:p.Lys589Asn
XM_024452473.1:c.1662A>T	XP_024308241.1:p.Lys554Asn
NM_001367721.1:c.2340A>T MANE Select	NP_001354650.1:p.Lys780Asn