Canonical Allele Identifier: CA412993693

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41555623T>C , CM000685.2:g.41555623T>C	GRCh38
NC_000023.10:g.41414876T>C , CM000685.1:g.41414876T>C	GRCh37
NC_000023.9:g.41299820T>C	NCBI36
NG_016754.1:g.372412A>G
NG_016754.2:g.372412A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001367721.1:c.1819A>G MANE Select	NP_001354650.1:p.Thr607Ala
ENST00000378163.7:c.1819A>G MANE Select	ENSP00000367405.1:p.Thr607Ala
NM_001126054.2:c.1750A>G	NP_001119526.1:p.Thr584Ala
NM_001126055.2:c.1732A>G	NP_001119527.1:p.Thr578Ala
NM_003688.3:c.1819A>G	NP_003679.2:p.Thr607Ala
ENST00000378154.3:c.1806+1409A>G	ENSP00000367396.2:n.1806+1409A>G
ENST00000378158.5:c.1806+1409A>G	ENSP00000367400.1:n.1806+1409A>G
ENST00000378158.6:c.1788+1409A>G	ENSP00000367400.2:n.1788+1409A>G
ENST00000378163.5:c.1819A>G	ENSP00000367405.1:p.Thr607Ala
ENST00000378166.8:c.1819A>G	ENSP00000367408.4:p.Thr607Ala
ENST00000378166.9:c.1732A>G	ENSP00000367408.5:p.Thr578Ala
ENST00000378168.6:c.207+1409A>G	ENSP00000367410.2:n.207+1409A>G
ENST00000378168.8:c.1837A>G	ENSP00000367410.4:p.Thr613Ala
ENST00000378179.7:c.595A>G	ENSP00000367421.3:p.Thr199Ala
ENST00000378179.9:c.439A>G	ENSP00000367421.4:p.Thr147Ala
ENST00000421587.6:c.1732A>G	ENSP00000400526.2:p.Thr578Ala
ENST00000421587.8:c.1750A>G	ENSP00000400526.4:p.Thr584Ala
ENST00000442742.6:c.1750A>G	ENSP00000398007.2:p.Thr584Ala
ENST00000442742.7:c.1720-1708A>G	ENSP00000398007.3:n.1720-1708A>G
ENST00000472704.1:n.361A>G
ENST00000472704.3:n.361A>G
ENST00000642499.1:n.613A>G
ENST00000644219.1:c.1801A>G	ENSP00000495357.1:p.Thr601Ala
ENST00000644347.1:c.1732A>G	ENSP00000494183.1:p.Thr578Ala
ENST00000645566.1:c.1819A>G	ENSP00000494788.1:p.Thr607Ala
ENST00000645937.2:n.2050A>G
ENST00000645986.2:c.1801A>G	ENSP00000494409.2:p.Thr601Ala
ENST00000646087.2:c.1165-1708A>G	ENSP00000495510.2:n.1165-1708A>G
ENST00000646120.2:c.1750A>G	ENSP00000495291.2:p.Thr584Ala
ENST00000675354.1:c.1768A>G	ENSP00000502315.1:p.Thr590Ala
XM_005272686.3:c.1801A>G	XP_005272743.1:p.Thr601Ala
XM_005272686.4:c.1801A>G	XP_005272743.1:p.Thr601Ala
XM_006724566.2:c.1720-1708A>G	XP_006724629.1:n.1720-1708A>G
XM_006724566.3:c.1720-1708A>G	XP_006724629.1:n.1720-1708A>G
XM_011543993.1:c.1819A>G	XP_011542295.1:p.Thr607Ala
XM_011543993.2:c.1819A>G	XP_011542295.1:p.Thr607Ala
XM_011543994.1:c.1806+1409A>G	XP_011542296.1:n.1806+1409A>G
XM_011543994.2:c.1806+1409A>G	XP_011542296.1:n.1806+1409A>G
XM_011543995.1:c.1750A>G	XP_011542297.1:p.Thr584Ala
XM_011543995.2:c.1750A>G	XP_011542297.1:p.Thr584Ala
XM_011543996.1:c.1738-1708A>G	XP_011542298.1:n.1738-1708A>G
XM_011543996.2:c.1738-1708A>G	XP_011542298.1:n.1738-1708A>G
XM_011543997.1:c.1246A>G	XP_011542299.1:p.Thr416Ala
XM_011543997.3:c.1246A>G	XP_011542299.1:p.Thr416Ala
XM_024452473.1:c.1165-1708A>G	XP_024308241.1:n.1165-1708A>G