Canonical Allele Identifier: CA412998978

Gene: CASK

Linked Data

• ClinVar Variation Id: 846923
• ClinVar RCV Id: RCV001050347
• dbSNP Id: rs1057521754
• gnomAD v4: X-41671467-C-T
• MyVariant Identifiers: chrX:g.41530720C>T (hg19) ; chrX:g.41671467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41671467C>T , CM000685.2:g.41671467C>T	GRCh38
NC_000023.10:g.41530720C>T , CM000685.1:g.41530720C>T	GRCh37
NC_000023.9:g.41415664C>T	NCBI36
NG_016754.1:g.256568G>A
NG_016754.2:g.256568G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378154.3:c.493G>A	ENSP00000367396.2:p.Val165Ile
ENST00000378158.6:c.493G>A	ENSP00000367400.2:p.Val165Ile
ENST00000378163.7:c.493G>A MANE Select	ENSP00000367405.1:p.Val165Ile
ENST00000378166.9:c.493G>A	ENSP00000367408.5:p.Val165Ile
ENST00000378168.8:c.511G>A	ENSP00000367410.4:p.Val171Ile
ENST00000421587.8:c.511G>A	ENSP00000400526.4:p.Val171Ile
ENST00000442742.7:c.493G>A	ENSP00000398007.3:p.Val165Ile
ENST00000643831.2:c.493G>A	ENSP00000494388.2:p.Val165Ile
ENST00000643853.1:n.207G>A
ENST00000644219.1:c.493G>A	ENSP00000495357.1:p.Val165Ile
ENST00000644347.1:c.493G>A	ENSP00000494183.1:p.Val165Ile
ENST00000645566.1:c.493G>A	ENSP00000494788.1:p.Val165Ile
ENST00000645986.2:c.493G>A	ENSP00000494409.2:p.Val165Ile
ENST00000646120.2:c.493G>A	ENSP00000495291.2:p.Val165Ile
ENST00000647118.2:c.*180G>A	ENSP00000493700.1:n.*180G>A
ENST00000675354.1:c.511G>A	ENSP00000502315.1:p.Val171Ile
ENST00000378154.1:c.493G>A	ENSP00000367396.1:p.Val165Ile
ENST00000378158.5:c.493G>A	ENSP00000367400.1:p.Val165Ile
ENST00000378163.5:c.493G>A	ENSP00000367405.1:p.Val165Ile
ENST00000378166.8:c.493G>A	ENSP00000367408.4:p.Val165Ile
ENST00000421587.6:c.493G>A	ENSP00000400526.2:p.Val165Ile
ENST00000442742.6:c.493G>A	ENSP00000398007.2:p.Val165Ile
NM_001126054.2:c.493G>A	NP_001119526.1:p.Val165Ile
NM_001126055.2:c.493G>A	NP_001119527.1:p.Val165Ile
NM_003688.3:c.493G>A	NP_003679.2:p.Val165Ile
XM_005272686.3:c.493G>A	XP_005272743.1:p.Val165Ile
XM_006724566.2:c.493G>A	XP_006724629.1:p.Val165Ile
XM_011543993.1:c.511G>A	XP_011542295.1:p.Val171Ile
XM_011543994.1:c.511G>A	XP_011542296.1:p.Val171Ile
XM_011543995.1:c.511G>A	XP_011542297.1:p.Val171Ile
XM_011543996.1:c.511G>A	XP_011542298.1:p.Val171Ile
XM_005272686.4:c.493G>A	XP_005272743.1:p.Val165Ile
XM_006724566.3:c.493G>A	XP_006724629.1:p.Val165Ile
XM_011543993.2:c.511G>A	XP_011542295.1:p.Val171Ile
XM_011543994.2:c.511G>A	XP_011542296.1:p.Val171Ile
XM_011543995.2:c.511G>A	XP_011542297.1:p.Val171Ile
XM_011543996.2:c.511G>A	XP_011542298.1:p.Val171Ile
NM_001367721.1:c.493G>A MANE Select	NP_001354650.1:p.Val165Ile