Canonical Allele Identifier: CA412990000

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390288A>C (hg19) ; chrX:g.41531035A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531035A>C , CM000685.2:g.41531035A>C	GRCh38
NC_000023.10:g.41390288A>C , CM000685.1:g.41390288A>C	GRCh37
NC_000023.9:g.41275232A>C	NCBI36
NG_016754.1:g.397000T>G
NG_016754.2:g.397000T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2441T>G	ENSP00000367396.2:p.Leu814Arg
ENST00000378158.6:c.2438T>G	ENSP00000367400.2:p.Leu813Arg
ENST00000378163.7:c.2492T>G MANE Select	ENSP00000367405.1:p.Leu831Arg
ENST00000378166.9:c.2390T>G	ENSP00000367408.5:p.Leu797Arg
ENST00000378168.8:c.2495T>G	ENSP00000367410.4:p.Leu832Arg
ENST00000378179.9:c.1112T>G	ENSP00000367421.4:p.Leu371Arg
ENST00000421587.8:c.2423T>G	ENSP00000400526.4:p.Leu808Arg
ENST00000442742.7:c.2354T>G	ENSP00000398007.3:p.Leu785Arg
ENST00000642499.1:n.1271T>G
ENST00000643733.1:c.264T>G
ENST00000644219.1:c.2474T>G	ENSP00000495357.1:p.Leu825Arg
ENST00000644347.1:c.2405T>G	ENSP00000494183.1:p.Leu802Arg
ENST00000645566.1:c.2477T>G	ENSP00000494788.1:p.Leu826Arg
ENST00000645937.2:n.2723T>G
ENST00000645986.2:c.2459T>G	ENSP00000494409.2:p.Leu820Arg
ENST00000646087.2:c.1814T>G	ENSP00000495510.2:p.Leu605Arg
ENST00000646120.2:c.2408T>G	ENSP00000495291.2:p.Leu803Arg
ENST00000675354.1:c.2426T>G	ENSP00000502315.1:p.Leu809Arg
ENST00000378158.5:c.2441T>G	ENSP00000367400.1:p.Leu814Arg
ENST00000378163.5:c.2492T>G	ENSP00000367405.1:p.Leu831Arg
ENST00000378166.8:c.2477T>G	ENSP00000367408.4:p.Leu826Arg
ENST00000378168.6:c.857T>G	ENSP00000367410.2:p.Leu286Arg
ENST00000378179.7:c.1268T>G	ENSP00000367421.3:p.Leu423Arg
ENST00000421587.6:c.2405T>G	ENSP00000400526.2:p.Leu802Arg
ENST00000442742.6:c.2408T>G	ENSP00000398007.2:p.Leu803Arg
NM_001126054.2:c.2408T>G	NP_001119526.1:p.Leu803Arg
NM_001126055.2:c.2405T>G	NP_001119527.1:p.Leu802Arg
NM_003688.3:c.2477T>G	NP_003679.2:p.Leu826Arg
XM_005272686.3:c.2474T>G	XP_005272743.1:p.Leu825Arg
XM_006724566.2:c.2369T>G	XP_006724629.1:p.Leu790Arg
XM_011543993.1:c.2492T>G	XP_011542295.1:p.Leu831Arg
XM_011543994.1:c.2456T>G	XP_011542296.1:p.Leu819Arg
XM_011543995.1:c.2423T>G	XP_011542297.1:p.Leu808Arg
XM_011543996.1:c.2387T>G	XP_011542298.1:p.Leu796Arg
XM_011543997.1:c.1919T>G	XP_011542299.1:p.Leu640Arg
XM_005272686.4:c.2474T>G	XP_005272743.1:p.Leu825Arg
XM_006724566.3:c.2369T>G	XP_006724629.1:p.Leu790Arg
XM_011543993.2:c.2492T>G	XP_011542295.1:p.Leu831Arg
XM_011543994.2:c.2456T>G	XP_011542296.1:p.Leu819Arg
XM_011543995.2:c.2423T>G	XP_011542297.1:p.Leu808Arg
XM_011543996.2:c.2387T>G	XP_011542298.1:p.Leu796Arg
XM_011543997.3:c.1919T>G	XP_011542299.1:p.Leu640Arg
XM_024452473.1:c.1814T>G	XP_024308241.1:p.Leu605Arg
NM_001367721.1:c.2492T>G MANE Select	NP_001354650.1:p.Leu831Arg