Canonical Allele Identifier: CA412989928

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390267T>C (hg19) ; chrX:g.41531014T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531014T>C , CM000685.2:g.41531014T>C	GRCh38
NC_000023.10:g.41390267T>C , CM000685.1:g.41390267T>C	GRCh37
NC_000023.9:g.41275211T>C	NCBI36
NG_016754.1:g.397021A>G
NG_016754.2:g.397021A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2462A>G	ENSP00000367396.2:p.Glu821Gly
ENST00000378158.6:c.2459A>G	ENSP00000367400.2:p.Glu820Gly
ENST00000378163.7:c.2513A>G MANE Select	ENSP00000367405.1:p.Glu838Gly
ENST00000378166.9:c.2411A>G	ENSP00000367408.5:p.Glu804Gly
ENST00000378168.8:c.2516A>G	ENSP00000367410.4:p.Glu839Gly
ENST00000378179.9:c.1133A>G	ENSP00000367421.4:p.Glu378Gly
ENST00000421587.8:c.2444A>G	ENSP00000400526.4:p.Glu815Gly
ENST00000442742.7:c.2375A>G	ENSP00000398007.3:p.Glu792Gly
ENST00000642499.1:n.1292A>G
ENST00000643733.1:c.285A>G
ENST00000644219.1:c.2495A>G	ENSP00000495357.1:p.Glu832Gly
ENST00000644347.1:c.2426A>G	ENSP00000494183.1:p.Glu809Gly
ENST00000645566.1:c.2498A>G	ENSP00000494788.1:p.Glu833Gly
ENST00000645937.2:n.2744A>G
ENST00000645986.2:c.2480A>G	ENSP00000494409.2:p.Glu827Gly
ENST00000646087.2:c.1835A>G	ENSP00000495510.2:p.Glu612Gly
ENST00000646120.2:c.2429A>G	ENSP00000495291.2:p.Glu810Gly
ENST00000675354.1:c.2447A>G	ENSP00000502315.1:p.Glu816Gly
ENST00000378158.5:c.2462A>G	ENSP00000367400.1:p.Glu821Gly
ENST00000378163.5:c.2513A>G	ENSP00000367405.1:p.Glu838Gly
ENST00000378166.8:c.2498A>G	ENSP00000367408.4:p.Glu833Gly
ENST00000378168.6:c.878A>G	ENSP00000367410.2:p.Glu293Gly
ENST00000378179.7:c.1289A>G	ENSP00000367421.3:p.Glu430Gly
ENST00000421587.6:c.2426A>G	ENSP00000400526.2:p.Glu809Gly
ENST00000442742.6:c.2429A>G	ENSP00000398007.2:p.Glu810Gly
NM_001126054.2:c.2429A>G	NP_001119526.1:p.Glu810Gly
NM_001126055.2:c.2426A>G	NP_001119527.1:p.Glu809Gly
NM_003688.3:c.2498A>G	NP_003679.2:p.Glu833Gly
XM_005272686.3:c.2495A>G	XP_005272743.1:p.Glu832Gly
XM_006724566.2:c.2390A>G	XP_006724629.1:p.Glu797Gly
XM_011543993.1:c.2513A>G	XP_011542295.1:p.Glu838Gly
XM_011543994.1:c.2477A>G	XP_011542296.1:p.Glu826Gly
XM_011543995.1:c.2444A>G	XP_011542297.1:p.Glu815Gly
XM_011543996.1:c.2408A>G	XP_011542298.1:p.Glu803Gly
XM_011543997.1:c.1940A>G	XP_011542299.1:p.Glu647Gly
XM_005272686.4:c.2495A>G	XP_005272743.1:p.Glu832Gly
XM_006724566.3:c.2390A>G	XP_006724629.1:p.Glu797Gly
XM_011543993.2:c.2513A>G	XP_011542295.1:p.Glu838Gly
XM_011543994.2:c.2477A>G	XP_011542296.1:p.Glu826Gly
XM_011543995.2:c.2444A>G	XP_011542297.1:p.Glu815Gly
XM_011543996.2:c.2408A>G	XP_011542298.1:p.Glu803Gly
XM_011543997.3:c.1940A>G	XP_011542299.1:p.Glu647Gly
XM_024452473.1:c.1835A>G	XP_024308241.1:p.Glu612Gly
NM_001367721.1:c.2513A>G MANE Select	NP_001354650.1:p.Glu838Gly