Canonical Allele Identifier: CA412990027

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390295G>C (hg19) ; chrX:g.41531042G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531042G>C , CM000685.2:g.41531042G>C	GRCh38
NC_000023.10:g.41390295G>C , CM000685.1:g.41390295G>C	GRCh37
NC_000023.9:g.41275239G>C	NCBI36
NG_016754.1:g.396993C>G
NG_016754.2:g.396993C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2434C>G	ENSP00000367396.2:p.Gln812Glu
ENST00000378158.6:c.2431C>G	ENSP00000367400.2:p.Gln811Glu
ENST00000378163.7:c.2485C>G MANE Select	ENSP00000367405.1:p.Gln829Glu
ENST00000378166.9:c.2383C>G	ENSP00000367408.5:p.Gln795Glu
ENST00000378168.8:c.2488C>G	ENSP00000367410.4:p.Gln830Glu
ENST00000378179.9:c.1105C>G	ENSP00000367421.4:p.Gln369Glu
ENST00000421587.8:c.2416C>G	ENSP00000400526.4:p.Gln806Glu
ENST00000442742.7:c.2347C>G	ENSP00000398007.3:p.Gln783Glu
ENST00000642499.1:n.1264C>G
ENST00000643733.1:c.257C>G
ENST00000644219.1:c.2467C>G	ENSP00000495357.1:p.Gln823Glu
ENST00000644347.1:c.2398C>G	ENSP00000494183.1:p.Gln800Glu
ENST00000645566.1:c.2470C>G	ENSP00000494788.1:p.Gln824Glu
ENST00000645937.2:n.2716C>G
ENST00000645986.2:c.2452C>G	ENSP00000494409.2:p.Gln818Glu
ENST00000646087.2:c.1807C>G	ENSP00000495510.2:p.Gln603Glu
ENST00000646120.2:c.2401C>G	ENSP00000495291.2:p.Gln801Glu
ENST00000675354.1:c.2419C>G	ENSP00000502315.1:p.Gln807Glu
ENST00000378158.5:c.2434C>G	ENSP00000367400.1:p.Gln812Glu
ENST00000378163.5:c.2485C>G	ENSP00000367405.1:p.Gln829Glu
ENST00000378166.8:c.2470C>G	ENSP00000367408.4:p.Gln824Glu
ENST00000378168.6:c.850C>G	ENSP00000367410.2:p.Gln284Glu
ENST00000378179.7:c.1261C>G	ENSP00000367421.3:p.Gln421Glu
ENST00000421587.6:c.2398C>G	ENSP00000400526.2:p.Gln800Glu
ENST00000442742.6:c.2401C>G	ENSP00000398007.2:p.Gln801Glu
NM_001126054.2:c.2401C>G	NP_001119526.1:p.Gln801Glu
NM_001126055.2:c.2398C>G	NP_001119527.1:p.Gln800Glu
NM_003688.3:c.2470C>G	NP_003679.2:p.Gln824Glu
XM_005272686.3:c.2467C>G	XP_005272743.1:p.Gln823Glu
XM_006724566.2:c.2362C>G	XP_006724629.1:p.Gln788Glu
XM_011543993.1:c.2485C>G	XP_011542295.1:p.Gln829Glu
XM_011543994.1:c.2449C>G	XP_011542296.1:p.Gln817Glu
XM_011543995.1:c.2416C>G	XP_011542297.1:p.Gln806Glu
XM_011543996.1:c.2380C>G	XP_011542298.1:p.Gln794Glu
XM_011543997.1:c.1912C>G	XP_011542299.1:p.Gln638Glu
XM_005272686.4:c.2467C>G	XP_005272743.1:p.Gln823Glu
XM_006724566.3:c.2362C>G	XP_006724629.1:p.Gln788Glu
XM_011543993.2:c.2485C>G	XP_011542295.1:p.Gln829Glu
XM_011543994.2:c.2449C>G	XP_011542296.1:p.Gln817Glu
XM_011543995.2:c.2416C>G	XP_011542297.1:p.Gln806Glu
XM_011543996.2:c.2380C>G	XP_011542298.1:p.Gln794Glu
XM_011543997.3:c.1912C>G	XP_011542299.1:p.Gln638Glu
XM_024452473.1:c.1807C>G	XP_024308241.1:p.Gln603Glu
NM_001367721.1:c.2485C>G MANE Select	NP_001354650.1:p.Gln829Glu