Canonical Allele Identifier: CA412988726

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41379714A>C (hg19) ; chrX:g.41520461A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520461A>C , CM000685.2:g.41520461A>C	GRCh38
NC_000023.10:g.41379714A>C , CM000685.1:g.41379714A>C	GRCh37
NC_000023.9:g.41264658A>C	NCBI36
NG_016754.1:g.407574T>G
NG_016754.2:g.407574T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2689T>G	ENSP00000367396.2:p.Cys897Gly
ENST00000378158.6:c.2686T>G	ENSP00000367400.2:p.Cys896Gly
ENST00000378163.7:c.2740T>G MANE Select	ENSP00000367405.1:p.Cys914Gly
ENST00000378166.9:c.2638T>G	ENSP00000367408.5:p.Cys880Gly
ENST00000378168.8:c.2743T>G	ENSP00000367410.4:p.Cys915Gly
ENST00000378179.9:c.1360T>G	ENSP00000367421.4:p.Cys454Gly
ENST00000421587.8:c.2671T>G	ENSP00000400526.4:p.Cys891Gly
ENST00000442742.7:c.2602T>G	ENSP00000398007.3:p.Cys868Gly
ENST00000642499.1:n.1519T>G
ENST00000642641.1:n.899T>G
ENST00000643733.1:c.539T>G
ENST00000644219.1:c.2722T>G	ENSP00000495357.1:p.Cys908Gly
ENST00000644347.1:c.2653T>G	ENSP00000494183.1:p.Cys885Gly
ENST00000645566.1:c.2725T>G	ENSP00000494788.1:p.Cys909Gly
ENST00000645937.2:n.2971T>G
ENST00000645986.2:c.2827T>G	ENSP00000494409.2:p.Cys943Gly
ENST00000646087.2:c.2062T>G	ENSP00000495510.2:p.Cys688Gly
ENST00000646120.2:c.2656T>G	ENSP00000495291.2:p.Cys886Gly
ENST00000675354.1:c.2674T>G	ENSP00000502315.1:p.Cys892Gly
ENST00000378158.5:c.2689T>G	ENSP00000367400.1:p.Cys897Gly
ENST00000378163.5:c.2740T>G	ENSP00000367405.1:p.Cys914Gly
ENST00000378166.8:c.2725T>G	ENSP00000367408.4:p.Cys909Gly
ENST00000378168.6:c.1105T>G	ENSP00000367410.2:p.Cys369Gly
ENST00000378179.7:c.1516T>G	ENSP00000367421.3:p.Cys506Gly
ENST00000421587.6:c.2653T>G	ENSP00000400526.2:p.Cys885Gly
ENST00000442742.6:c.2656T>G	ENSP00000398007.2:p.Cys886Gly
NM_001126054.2:c.2656T>G	NP_001119526.1:p.Cys886Gly
NM_001126055.2:c.2653T>G	NP_001119527.1:p.Cys885Gly
NM_003688.3:c.2725T>G	NP_003679.2:p.Cys909Gly
XM_005272686.3:c.2722T>G	XP_005272743.1:p.Cys908Gly
XM_006724566.2:c.2617T>G	XP_006724629.1:p.Cys873Gly
XM_011543993.1:c.2740T>G	XP_011542295.1:p.Cys914Gly
XM_011543994.1:c.2704T>G	XP_011542296.1:p.Cys902Gly
XM_011543995.1:c.2671T>G	XP_011542297.1:p.Cys891Gly
XM_011543996.1:c.2635T>G	XP_011542298.1:p.Cys879Gly
XM_011543997.1:c.2167T>G	XP_011542299.1:p.Cys723Gly
XM_005272686.4:c.2722T>G	XP_005272743.1:p.Cys908Gly
XM_006724566.3:c.2617T>G	XP_006724629.1:p.Cys873Gly
XM_011543993.2:c.2740T>G	XP_011542295.1:p.Cys914Gly
XM_011543994.2:c.2704T>G	XP_011542296.1:p.Cys902Gly
XM_011543995.2:c.2671T>G	XP_011542297.1:p.Cys891Gly
XM_011543996.2:c.2635T>G	XP_011542298.1:p.Cys879Gly
XM_011543997.3:c.2167T>G	XP_011542299.1:p.Cys723Gly
XM_024452473.1:c.2062T>G	XP_024308241.1:p.Cys688Gly
NM_001367721.1:c.2740T>G MANE Select	NP_001354650.1:p.Cys914Gly