Canonical Allele Identifier: CA412990175

Gene: CASK

Linked Data

• gnomAD v4: X-41531082-C-T
• MyVariant Identifiers: chrX:g.41390335C>T (hg19) ; chrX:g.41531082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531082C>T , CM000685.2:g.41531082C>T	GRCh38
NC_000023.10:g.41390335C>T , CM000685.1:g.41390335C>T	GRCh37
NC_000023.9:g.41275279C>T	NCBI36
NG_016754.1:g.396953G>A
NG_016754.2:g.396953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2394G>A	ENSP00000367396.2:p.Met798Ile
ENST00000378158.6:c.2391G>A	ENSP00000367400.2:p.Met797Ile
ENST00000378163.7:c.2445G>A MANE Select	ENSP00000367405.1:p.Met815Ile
ENST00000378166.9:c.2343G>A	ENSP00000367408.5:p.Met781Ile
ENST00000378168.8:c.2448G>A	ENSP00000367410.4:p.Met816Ile
ENST00000378179.9:c.1065G>A	ENSP00000367421.4:p.Met355Ile
ENST00000421587.8:c.2376G>A	ENSP00000400526.4:p.Met792Ile
ENST00000442742.7:c.2307G>A	ENSP00000398007.3:p.Met769Ile
ENST00000642499.1:n.1224G>A
ENST00000643733.1:c.217G>A
ENST00000644219.1:c.2427G>A	ENSP00000495357.1:p.Met809Ile
ENST00000644347.1:c.2358G>A	ENSP00000494183.1:p.Met786Ile
ENST00000645566.1:c.2430G>A	ENSP00000494788.1:p.Met810Ile
ENST00000645937.2:n.2676G>A
ENST00000645986.2:c.2412G>A	ENSP00000494409.2:p.Met804Ile
ENST00000646087.2:c.1767G>A	ENSP00000495510.2:p.Met589Ile
ENST00000646120.2:c.2361G>A	ENSP00000495291.2:p.Met787Ile
ENST00000675354.1:c.2379G>A	ENSP00000502315.1:p.Met793Ile
ENST00000378158.5:c.2394G>A	ENSP00000367400.1:p.Met798Ile
ENST00000378163.5:c.2445G>A	ENSP00000367405.1:p.Met815Ile
ENST00000378166.8:c.2430G>A	ENSP00000367408.4:p.Met810Ile
ENST00000378168.6:c.810G>A	ENSP00000367410.2:p.Met270Ile
ENST00000378179.7:c.1221G>A	ENSP00000367421.3:p.Met407Ile
ENST00000421587.6:c.2358G>A	ENSP00000400526.2:p.Met786Ile
ENST00000442742.6:c.2361G>A	ENSP00000398007.2:p.Met787Ile
NM_001126054.2:c.2361G>A	NP_001119526.1:p.Met787Ile
NM_001126055.2:c.2358G>A	NP_001119527.1:p.Met786Ile
NM_003688.3:c.2430G>A	NP_003679.2:p.Met810Ile
XM_005272686.3:c.2427G>A	XP_005272743.1:p.Met809Ile
XM_006724566.2:c.2322G>A	XP_006724629.1:p.Met774Ile
XM_011543993.1:c.2445G>A	XP_011542295.1:p.Met815Ile
XM_011543994.1:c.2409G>A	XP_011542296.1:p.Met803Ile
XM_011543995.1:c.2376G>A	XP_011542297.1:p.Met792Ile
XM_011543996.1:c.2340G>A	XP_011542298.1:p.Met780Ile
XM_011543997.1:c.1872G>A	XP_011542299.1:p.Met624Ile
XM_005272686.4:c.2427G>A	XP_005272743.1:p.Met809Ile
XM_006724566.3:c.2322G>A	XP_006724629.1:p.Met774Ile
XM_011543993.2:c.2445G>A	XP_011542295.1:p.Met815Ile
XM_011543994.2:c.2409G>A	XP_011542296.1:p.Met803Ile
XM_011543995.2:c.2376G>A	XP_011542297.1:p.Met792Ile
XM_011543996.2:c.2340G>A	XP_011542298.1:p.Met780Ile
XM_011543997.3:c.1872G>A	XP_011542299.1:p.Met624Ile
XM_024452473.1:c.1767G>A	XP_024308241.1:p.Met589Ile
NM_001367721.1:c.2445G>A MANE Select	NP_001354650.1:p.Met815Ile