Canonical Allele Identifier: CA412988725

Gene: CASK

Linked Data

• ClinVar Variation Id: 2113891
• ClinVar RCV Id: RCV003039007
• MyVariant Identifiers: chrX:g.41379713C>T (hg19) ; chrX:g.41520460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520460C>T , CM000685.2:g.41520460C>T	GRCh38
NC_000023.10:g.41379713C>T , CM000685.1:g.41379713C>T	GRCh37
NC_000023.9:g.41264657C>T	NCBI36
NG_016754.1:g.407575G>A
NG_016754.2:g.407575G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2690G>A	ENSP00000367396.2:p.Cys897Tyr
ENST00000378158.6:c.2687G>A	ENSP00000367400.2:p.Cys896Tyr
ENST00000378163.7:c.2741G>A MANE Select	ENSP00000367405.1:p.Cys914Tyr
ENST00000378166.9:c.2639G>A	ENSP00000367408.5:p.Cys880Tyr
ENST00000378168.8:c.2744G>A	ENSP00000367410.4:p.Cys915Tyr
ENST00000378179.9:c.1361G>A	ENSP00000367421.4:p.Cys454Tyr
ENST00000421587.8:c.2672G>A	ENSP00000400526.4:p.Cys891Tyr
ENST00000442742.7:c.2603G>A	ENSP00000398007.3:p.Cys868Tyr
ENST00000642499.1:n.1520G>A
ENST00000642641.1:n.900G>A
ENST00000643733.1:c.540G>A
ENST00000644219.1:c.2723G>A	ENSP00000495357.1:p.Cys908Tyr
ENST00000644347.1:c.2654G>A	ENSP00000494183.1:p.Cys885Tyr
ENST00000645566.1:c.2726G>A	ENSP00000494788.1:p.Cys909Tyr
ENST00000645937.2:n.2972G>A
ENST00000645986.2:c.2828G>A	ENSP00000494409.2:p.Cys943Tyr
ENST00000646087.2:c.2063G>A	ENSP00000495510.2:p.Cys688Tyr
ENST00000646120.2:c.2657G>A	ENSP00000495291.2:p.Cys886Tyr
ENST00000675354.1:c.2675G>A	ENSP00000502315.1:p.Cys892Tyr
ENST00000378158.5:c.2690G>A	ENSP00000367400.1:p.Cys897Tyr
ENST00000378163.5:c.2741G>A	ENSP00000367405.1:p.Cys914Tyr
ENST00000378166.8:c.2726G>A	ENSP00000367408.4:p.Cys909Tyr
ENST00000378168.6:c.1106G>A	ENSP00000367410.2:p.Cys369Tyr
ENST00000378179.7:c.1517G>A	ENSP00000367421.3:p.Cys506Tyr
ENST00000421587.6:c.2654G>A	ENSP00000400526.2:p.Cys885Tyr
ENST00000442742.6:c.2657G>A	ENSP00000398007.2:p.Cys886Tyr
NM_001126054.2:c.2657G>A	NP_001119526.1:p.Cys886Tyr
NM_001126055.2:c.2654G>A	NP_001119527.1:p.Cys885Tyr
NM_003688.3:c.2726G>A	NP_003679.2:p.Cys909Tyr
XM_005272686.3:c.2723G>A	XP_005272743.1:p.Cys908Tyr
XM_006724566.2:c.2618G>A	XP_006724629.1:p.Cys873Tyr
XM_011543993.1:c.2741G>A	XP_011542295.1:p.Cys914Tyr
XM_011543994.1:c.2705G>A	XP_011542296.1:p.Cys902Tyr
XM_011543995.1:c.2672G>A	XP_011542297.1:p.Cys891Tyr
XM_011543996.1:c.2636G>A	XP_011542298.1:p.Cys879Tyr
XM_011543997.1:c.2168G>A	XP_011542299.1:p.Cys723Tyr
XM_005272686.4:c.2723G>A	XP_005272743.1:p.Cys908Tyr
XM_006724566.3:c.2618G>A	XP_006724629.1:p.Cys873Tyr
XM_011543993.2:c.2741G>A	XP_011542295.1:p.Cys914Tyr
XM_011543994.2:c.2705G>A	XP_011542296.1:p.Cys902Tyr
XM_011543995.2:c.2672G>A	XP_011542297.1:p.Cys891Tyr
XM_011543996.2:c.2636G>A	XP_011542298.1:p.Cys879Tyr
XM_011543997.3:c.2168G>A	XP_011542299.1:p.Cys723Tyr
XM_024452473.1:c.2063G>A	XP_024308241.1:p.Cys688Tyr
NM_001367721.1:c.2741G>A MANE Select	NP_001354650.1:p.Cys914Tyr