Canonical Allele Identifier: CA412989931

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390268C>A (hg19) ; chrX:g.41531015C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531015C>A , CM000685.2:g.41531015C>A	GRCh38
NC_000023.10:g.41390268C>A , CM000685.1:g.41390268C>A	GRCh37
NC_000023.9:g.41275212C>A	NCBI36
NG_016754.1:g.397020G>T
NG_016754.2:g.397020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2461G>T	ENSP00000367396.2:p.Glu821Ter
ENST00000378158.6:c.2458G>T	ENSP00000367400.2:p.Glu820Ter
ENST00000378163.7:c.2512G>T MANE Select	ENSP00000367405.1:p.Glu838Ter
ENST00000378166.9:c.2410G>T	ENSP00000367408.5:p.Glu804Ter
ENST00000378168.8:c.2515G>T	ENSP00000367410.4:p.Glu839Ter
ENST00000378179.9:c.1132G>T	ENSP00000367421.4:p.Glu378Ter
ENST00000421587.8:c.2443G>T	ENSP00000400526.4:p.Glu815Ter
ENST00000442742.7:c.2374G>T	ENSP00000398007.3:p.Glu792Ter
ENST00000642499.1:n.1291G>T
ENST00000643733.1:c.284G>T
ENST00000644219.1:c.2494G>T	ENSP00000495357.1:p.Glu832Ter
ENST00000644347.1:c.2425G>T	ENSP00000494183.1:p.Glu809Ter
ENST00000645566.1:c.2497G>T	ENSP00000494788.1:p.Glu833Ter
ENST00000645937.2:n.2743G>T
ENST00000645986.2:c.2479G>T	ENSP00000494409.2:p.Glu827Ter
ENST00000646087.2:c.1834G>T	ENSP00000495510.2:p.Glu612Ter
ENST00000646120.2:c.2428G>T	ENSP00000495291.2:p.Glu810Ter
ENST00000675354.1:c.2446G>T	ENSP00000502315.1:p.Glu816Ter
ENST00000378158.5:c.2461G>T	ENSP00000367400.1:p.Glu821Ter
ENST00000378163.5:c.2512G>T	ENSP00000367405.1:p.Glu838Ter
ENST00000378166.8:c.2497G>T	ENSP00000367408.4:p.Glu833Ter
ENST00000378168.6:c.877G>T	ENSP00000367410.2:p.Glu293Ter
ENST00000378179.7:c.1288G>T	ENSP00000367421.3:p.Glu430Ter
ENST00000421587.6:c.2425G>T	ENSP00000400526.2:p.Glu809Ter
ENST00000442742.6:c.2428G>T	ENSP00000398007.2:p.Glu810Ter
NM_001126054.2:c.2428G>T	NP_001119526.1:p.Glu810Ter
NM_001126055.2:c.2425G>T	NP_001119527.1:p.Glu809Ter
NM_003688.3:c.2497G>T	NP_003679.2:p.Glu833Ter
XM_005272686.3:c.2494G>T	XP_005272743.1:p.Glu832Ter
XM_006724566.2:c.2389G>T	XP_006724629.1:p.Glu797Ter
XM_011543993.1:c.2512G>T	XP_011542295.1:p.Glu838Ter
XM_011543994.1:c.2476G>T	XP_011542296.1:p.Glu826Ter
XM_011543995.1:c.2443G>T	XP_011542297.1:p.Glu815Ter
XM_011543996.1:c.2407G>T	XP_011542298.1:p.Glu803Ter
XM_011543997.1:c.1939G>T	XP_011542299.1:p.Glu647Ter
XM_005272686.4:c.2494G>T	XP_005272743.1:p.Glu832Ter
XM_006724566.3:c.2389G>T	XP_006724629.1:p.Glu797Ter
XM_011543993.2:c.2512G>T	XP_011542295.1:p.Glu838Ter
XM_011543994.2:c.2476G>T	XP_011542296.1:p.Glu826Ter
XM_011543995.2:c.2443G>T	XP_011542297.1:p.Glu815Ter
XM_011543996.2:c.2407G>T	XP_011542298.1:p.Glu803Ter
XM_011543997.3:c.1939G>T	XP_011542299.1:p.Glu647Ter
XM_024452473.1:c.1834G>T	XP_024308241.1:p.Glu612Ter
NM_001367721.1:c.2512G>T MANE Select	NP_001354650.1:p.Glu838Ter