Canonical Allele Identifier: CA412990163

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390332A>T (hg19) ; chrX:g.41531079A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531079A>T , CM000685.2:g.41531079A>T	GRCh38
NC_000023.10:g.41390332A>T , CM000685.1:g.41390332A>T	GRCh37
NC_000023.9:g.41275276A>T	NCBI36
NG_016754.1:g.396956T>A
NG_016754.2:g.396956T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2397T>A	ENSP00000367396.2:p.Tyr799Ter
ENST00000378158.6:c.2394T>A	ENSP00000367400.2:p.Tyr798Ter
ENST00000378163.7:c.2448T>A MANE Select	ENSP00000367405.1:p.Tyr816Ter
ENST00000378166.9:c.2346T>A	ENSP00000367408.5:p.Tyr782Ter
ENST00000378168.8:c.2451T>A	ENSP00000367410.4:p.Tyr817Ter
ENST00000378179.9:c.1068T>A	ENSP00000367421.4:p.Tyr356Ter
ENST00000421587.8:c.2379T>A	ENSP00000400526.4:p.Tyr793Ter
ENST00000442742.7:c.2310T>A	ENSP00000398007.3:p.Tyr770Ter
ENST00000642499.1:n.1227T>A
ENST00000643733.1:c.220T>A
ENST00000644219.1:c.2430T>A	ENSP00000495357.1:p.Tyr810Ter
ENST00000644347.1:c.2361T>A	ENSP00000494183.1:p.Tyr787Ter
ENST00000645566.1:c.2433T>A	ENSP00000494788.1:p.Tyr811Ter
ENST00000645937.2:n.2679T>A
ENST00000645986.2:c.2415T>A	ENSP00000494409.2:p.Tyr805Ter
ENST00000646087.2:c.1770T>A	ENSP00000495510.2:p.Tyr590Ter
ENST00000646120.2:c.2364T>A	ENSP00000495291.2:p.Tyr788Ter
ENST00000675354.1:c.2382T>A	ENSP00000502315.1:p.Tyr794Ter
ENST00000378158.5:c.2397T>A	ENSP00000367400.1:p.Tyr799Ter
ENST00000378163.5:c.2448T>A	ENSP00000367405.1:p.Tyr816Ter
ENST00000378166.8:c.2433T>A	ENSP00000367408.4:p.Tyr811Ter
ENST00000378168.6:c.813T>A	ENSP00000367410.2:p.Tyr271Ter
ENST00000378179.7:c.1224T>A	ENSP00000367421.3:p.Tyr408Ter
ENST00000421587.6:c.2361T>A	ENSP00000400526.2:p.Tyr787Ter
ENST00000442742.6:c.2364T>A	ENSP00000398007.2:p.Tyr788Ter
NM_001126054.2:c.2364T>A	NP_001119526.1:p.Tyr788Ter
NM_001126055.2:c.2361T>A	NP_001119527.1:p.Tyr787Ter
NM_003688.3:c.2433T>A	NP_003679.2:p.Tyr811Ter
XM_005272686.3:c.2430T>A	XP_005272743.1:p.Tyr810Ter
XM_006724566.2:c.2325T>A	XP_006724629.1:p.Tyr775Ter
XM_011543993.1:c.2448T>A	XP_011542295.1:p.Tyr816Ter
XM_011543994.1:c.2412T>A	XP_011542296.1:p.Tyr804Ter
XM_011543995.1:c.2379T>A	XP_011542297.1:p.Tyr793Ter
XM_011543996.1:c.2343T>A	XP_011542298.1:p.Tyr781Ter
XM_011543997.1:c.1875T>A	XP_011542299.1:p.Tyr625Ter
XM_005272686.4:c.2430T>A	XP_005272743.1:p.Tyr810Ter
XM_006724566.3:c.2325T>A	XP_006724629.1:p.Tyr775Ter
XM_011543993.2:c.2448T>A	XP_011542295.1:p.Tyr816Ter
XM_011543994.2:c.2412T>A	XP_011542296.1:p.Tyr804Ter
XM_011543995.2:c.2379T>A	XP_011542297.1:p.Tyr793Ter
XM_011543996.2:c.2343T>A	XP_011542298.1:p.Tyr781Ter
XM_011543997.3:c.1875T>A	XP_011542299.1:p.Tyr625Ter
XM_024452473.1:c.1770T>A	XP_024308241.1:p.Tyr590Ter
NM_001367721.1:c.2448T>A MANE Select	NP_001354650.1:p.Tyr816Ter