Canonical Allele Identifier: CA412990667

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390450G>A (hg19) ; chrX:g.41531197G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531197G>A , CM000685.2:g.41531197G>A	GRCh38
NC_000023.10:g.41390450G>A , CM000685.1:g.41390450G>A	GRCh37
NC_000023.9:g.41275394G>A	NCBI36
NG_016754.1:g.396838C>T
NG_016754.2:g.396838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2279C>T	ENSP00000367396.2:p.Pro760Leu
ENST00000378158.6:c.2276C>T	ENSP00000367400.2:p.Pro759Leu
ENST00000378163.7:c.2330C>T MANE Select	ENSP00000367405.1:p.Pro777Leu
ENST00000378166.9:c.2228C>T	ENSP00000367408.5:p.Pro743Leu
ENST00000378168.8:c.2333C>T	ENSP00000367410.4:p.Pro778Leu
ENST00000378179.9:c.950C>T	ENSP00000367421.4:p.Pro317Leu
ENST00000421587.8:c.2261C>T	ENSP00000400526.4:p.Pro754Leu
ENST00000442742.7:c.2192C>T	ENSP00000398007.3:p.Pro731Leu
ENST00000642499.1:n.1109C>T
ENST00000643733.1:c.102C>T
ENST00000644219.1:c.2312C>T	ENSP00000495357.1:p.Pro771Leu
ENST00000644347.1:c.2243C>T	ENSP00000494183.1:p.Pro748Leu
ENST00000645566.1:c.2315C>T	ENSP00000494788.1:p.Pro772Leu
ENST00000645937.2:n.2561C>T
ENST00000645986.2:c.2297C>T	ENSP00000494409.2:p.Pro766Leu
ENST00000646087.2:c.1652C>T	ENSP00000495510.2:p.Pro551Leu
ENST00000646120.2:c.2246C>T	ENSP00000495291.2:p.Pro749Leu
ENST00000675354.1:c.2264C>T	ENSP00000502315.1:p.Pro755Leu
ENST00000378158.5:c.2279C>T	ENSP00000367400.1:p.Pro760Leu
ENST00000378163.5:c.2330C>T	ENSP00000367405.1:p.Pro777Leu
ENST00000378166.8:c.2315C>T	ENSP00000367408.4:p.Pro772Leu
ENST00000378168.6:c.695C>T	ENSP00000367410.2:p.Pro232Leu
ENST00000378179.7:c.1106C>T	ENSP00000367421.3:p.Pro369Leu
ENST00000421587.6:c.2243C>T	ENSP00000400526.2:p.Pro748Leu
ENST00000442742.6:c.2246C>T	ENSP00000398007.2:p.Pro749Leu
NM_001126054.2:c.2246C>T	NP_001119526.1:p.Pro749Leu
NM_001126055.2:c.2243C>T	NP_001119527.1:p.Pro748Leu
NM_003688.3:c.2315C>T	NP_003679.2:p.Pro772Leu
XM_005272686.3:c.2312C>T	XP_005272743.1:p.Pro771Leu
XM_006724566.2:c.2207C>T	XP_006724629.1:p.Pro736Leu
XM_011543993.1:c.2330C>T	XP_011542295.1:p.Pro777Leu
XM_011543994.1:c.2294C>T	XP_011542296.1:p.Pro765Leu
XM_011543995.1:c.2261C>T	XP_011542297.1:p.Pro754Leu
XM_011543996.1:c.2225C>T	XP_011542298.1:p.Pro742Leu
XM_011543997.1:c.1757C>T	XP_011542299.1:p.Pro586Leu
XM_005272686.4:c.2312C>T	XP_005272743.1:p.Pro771Leu
XM_006724566.3:c.2207C>T	XP_006724629.1:p.Pro736Leu
XM_011543993.2:c.2330C>T	XP_011542295.1:p.Pro777Leu
XM_011543994.2:c.2294C>T	XP_011542296.1:p.Pro765Leu
XM_011543995.2:c.2261C>T	XP_011542297.1:p.Pro754Leu
XM_011543996.2:c.2225C>T	XP_011542298.1:p.Pro742Leu
XM_011543997.3:c.1757C>T	XP_011542299.1:p.Pro586Leu
XM_024452473.1:c.1652C>T	XP_024308241.1:p.Pro551Leu
NM_001367721.1:c.2330C>T MANE Select	NP_001354650.1:p.Pro777Leu