Canonical Allele Identifier: CA412989916

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390264G>C (hg19) ; chrX:g.41531011G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531011G>C , CM000685.2:g.41531011G>C	GRCh38
NC_000023.10:g.41390264G>C , CM000685.1:g.41390264G>C	GRCh37
NC_000023.9:g.41275208G>C	NCBI36
NG_016754.1:g.397024C>G
NG_016754.2:g.397024C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2465C>G	ENSP00000367396.2:p.Pro822Arg
ENST00000378158.6:c.2462C>G	ENSP00000367400.2:p.Pro821Arg
ENST00000378163.7:c.2516C>G MANE Select	ENSP00000367405.1:p.Pro839Arg
ENST00000378166.9:c.2414C>G	ENSP00000367408.5:p.Pro805Arg
ENST00000378168.8:c.2519C>G	ENSP00000367410.4:p.Pro840Arg
ENST00000378179.9:c.1136C>G	ENSP00000367421.4:p.Pro379Arg
ENST00000421587.8:c.2447C>G	ENSP00000400526.4:p.Pro816Arg
ENST00000442742.7:c.2378C>G	ENSP00000398007.3:p.Pro793Arg
ENST00000642499.1:n.1295C>G
ENST00000643733.1:c.288C>G
ENST00000644219.1:c.2498C>G	ENSP00000495357.1:p.Pro833Arg
ENST00000644347.1:c.2429C>G	ENSP00000494183.1:p.Pro810Arg
ENST00000645566.1:c.2501C>G	ENSP00000494788.1:p.Pro834Arg
ENST00000645937.2:n.2747C>G
ENST00000645986.2:c.2483C>G	ENSP00000494409.2:p.Pro828Arg
ENST00000646087.2:c.1838C>G	ENSP00000495510.2:p.Pro613Arg
ENST00000646120.2:c.2432C>G	ENSP00000495291.2:p.Pro811Arg
ENST00000675354.1:c.2450C>G	ENSP00000502315.1:p.Pro817Arg
ENST00000378158.5:c.2465C>G	ENSP00000367400.1:p.Pro822Arg
ENST00000378163.5:c.2516C>G	ENSP00000367405.1:p.Pro839Arg
ENST00000378166.8:c.2501C>G	ENSP00000367408.4:p.Pro834Arg
ENST00000378168.6:c.881C>G	ENSP00000367410.2:p.Pro294Arg
ENST00000378179.7:c.1292C>G	ENSP00000367421.3:p.Pro431Arg
ENST00000421587.6:c.2429C>G	ENSP00000400526.2:p.Pro810Arg
ENST00000442742.6:c.2432C>G	ENSP00000398007.2:p.Pro811Arg
NM_001126054.2:c.2432C>G	NP_001119526.1:p.Pro811Arg
NM_001126055.2:c.2429C>G	NP_001119527.1:p.Pro810Arg
NM_003688.3:c.2501C>G	NP_003679.2:p.Pro834Arg
XM_005272686.3:c.2498C>G	XP_005272743.1:p.Pro833Arg
XM_006724566.2:c.2393C>G	XP_006724629.1:p.Pro798Arg
XM_011543993.1:c.2516C>G	XP_011542295.1:p.Pro839Arg
XM_011543994.1:c.2480C>G	XP_011542296.1:p.Pro827Arg
XM_011543995.1:c.2447C>G	XP_011542297.1:p.Pro816Arg
XM_011543996.1:c.2411C>G	XP_011542298.1:p.Pro804Arg
XM_011543997.1:c.1943C>G	XP_011542299.1:p.Pro648Arg
XM_005272686.4:c.2498C>G	XP_005272743.1:p.Pro833Arg
XM_006724566.3:c.2393C>G	XP_006724629.1:p.Pro798Arg
XM_011543993.2:c.2516C>G	XP_011542295.1:p.Pro839Arg
XM_011543994.2:c.2480C>G	XP_011542296.1:p.Pro827Arg
XM_011543995.2:c.2447C>G	XP_011542297.1:p.Pro816Arg
XM_011543996.2:c.2411C>G	XP_011542298.1:p.Pro804Arg
XM_011543997.3:c.1943C>G	XP_011542299.1:p.Pro648Arg
XM_024452473.1:c.1838C>G	XP_024308241.1:p.Pro613Arg
NM_001367721.1:c.2516C>G MANE Select	NP_001354650.1:p.Pro839Arg