Canonical Allele Identifier: CA412993409

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41553897A>G , CM000685.2:g.41553897A>G	GRCh38
NC_000023.10:g.41413150A>G , CM000685.1:g.41413150A>G	GRCh37
NC_000023.9:g.41298094A>G	NCBI36
NG_016754.1:g.374138T>C
NG_016754.2:g.374138T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001367721.1:c.1861T>C MANE Select	NP_001354650.1:p.Phe621Leu
ENST00000378163.7:c.1861T>C MANE Select	ENSP00000367405.1:p.Phe621Leu
NM_001126054.2:c.1792T>C	NP_001119526.1:p.Phe598Leu
NM_001126055.2:c.1774T>C	NP_001119527.1:p.Phe592Leu
NM_003688.3:c.1861T>C	NP_003679.2:p.Phe621Leu
ENST00000378154.3:c.1825T>C	ENSP00000367396.2:p.Phe609Leu
ENST00000378158.5:c.1825T>C	ENSP00000367400.1:p.Phe609Leu
ENST00000378158.6:c.1807T>C	ENSP00000367400.2:p.Phe603Leu
ENST00000378163.5:c.1861T>C	ENSP00000367405.1:p.Phe621Leu
ENST00000378166.8:c.1861T>C	ENSP00000367408.4:p.Phe621Leu
ENST00000378166.9:c.1774T>C	ENSP00000367408.5:p.Phe592Leu
ENST00000378168.6:c.226T>C	ENSP00000367410.2:p.Phe76Leu
ENST00000378168.8:c.1879T>C	ENSP00000367410.4:p.Phe627Leu
ENST00000378179.7:c.637T>C	ENSP00000367421.3:p.Phe213Leu
ENST00000378179.9:c.481T>C	ENSP00000367421.4:p.Phe161Leu
ENST00000421587.6:c.1774T>C	ENSP00000400526.2:p.Phe592Leu
ENST00000421587.8:c.1792T>C	ENSP00000400526.4:p.Phe598Leu
ENST00000442742.6:c.1792T>C	ENSP00000398007.2:p.Phe598Leu
ENST00000442742.7:c.1738T>C	ENSP00000398007.3:p.Phe580Leu
ENST00000472704.1:n.403T>C
ENST00000472704.3:n.403T>C
ENST00000642499.1:n.655T>C
ENST00000644219.1:c.1843T>C	ENSP00000495357.1:p.Phe615Leu
ENST00000644347.1:c.1774T>C	ENSP00000494183.1:p.Phe592Leu
ENST00000645566.1:c.1861T>C	ENSP00000494788.1:p.Phe621Leu
ENST00000645937.2:n.2092T>C
ENST00000645986.2:c.1843T>C	ENSP00000494409.2:p.Phe615Leu
ENST00000646087.2:c.1183T>C	ENSP00000495510.2:p.Phe395Leu
ENST00000646120.2:c.1792T>C	ENSP00000495291.2:p.Phe598Leu
ENST00000675354.1:c.1810T>C	ENSP00000502315.1:p.Phe604Leu
XM_005272686.3:c.1843T>C	XP_005272743.1:p.Phe615Leu
XM_005272686.4:c.1843T>C	XP_005272743.1:p.Phe615Leu
XM_006724566.2:c.1738T>C	XP_006724629.1:p.Phe580Leu
XM_006724566.3:c.1738T>C	XP_006724629.1:p.Phe580Leu
XM_011543993.1:c.1861T>C	XP_011542295.1:p.Phe621Leu
XM_011543993.2:c.1861T>C	XP_011542295.1:p.Phe621Leu
XM_011543994.1:c.1825T>C	XP_011542296.1:p.Phe609Leu
XM_011543994.2:c.1825T>C	XP_011542296.1:p.Phe609Leu
XM_011543995.1:c.1792T>C	XP_011542297.1:p.Phe598Leu
XM_011543995.2:c.1792T>C	XP_011542297.1:p.Phe598Leu
XM_011543996.1:c.1756T>C	XP_011542298.1:p.Phe586Leu
XM_011543996.2:c.1756T>C	XP_011542298.1:p.Phe586Leu
XM_011543997.1:c.1288T>C	XP_011542299.1:p.Phe430Leu
XM_011543997.3:c.1288T>C	XP_011542299.1:p.Phe430Leu
XM_024452473.1:c.1183T>C	XP_024308241.1:p.Phe395Leu