Canonical Allele Identifier: CA10390021

Gene: CASK

Linked Data

• ClinVar Variation Id: 1993215
• ClinVar RCV Id: RCV002801234
• dbSNP Id: rs761873670
• ExAC: X:41390336 A / T
• gnomAD v2: X-41390336-A-T
• gnomAD v3: X-41531083-A-T
• gnomAD v4: X-41531083-A-T
• MyVariant Identifiers: chrX:g.41390336A>T (hg19) ; chrX:g.41531083A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531083A>T , CM000685.2:g.41531083A>T	GRCh38
NC_000023.10:g.41390336A>T , CM000685.1:g.41390336A>T	GRCh37
NC_000023.9:g.41275280A>T	NCBI36
NG_016754.1:g.396952T>A
NG_016754.2:g.396952T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2393T>A	ENSP00000367396.2:p.Met798Lys
ENST00000378158.6:c.2390T>A	ENSP00000367400.2:p.Met797Lys
ENST00000378163.7:c.2444T>A MANE Select	ENSP00000367405.1:p.Met815Lys
ENST00000378166.9:c.2342T>A	ENSP00000367408.5:p.Met781Lys
ENST00000378168.8:c.2447T>A	ENSP00000367410.4:p.Met816Lys
ENST00000378179.9:c.1064T>A	ENSP00000367421.4:p.Met355Lys
ENST00000421587.8:c.2375T>A	ENSP00000400526.4:p.Met792Lys
ENST00000442742.7:c.2306T>A	ENSP00000398007.3:p.Met769Lys
ENST00000642499.1:n.1223T>A
ENST00000643733.1:c.216T>A
ENST00000644219.1:c.2426T>A	ENSP00000495357.1:p.Met809Lys
ENST00000644347.1:c.2357T>A	ENSP00000494183.1:p.Met786Lys
ENST00000645566.1:c.2429T>A	ENSP00000494788.1:p.Met810Lys
ENST00000645937.2:n.2675T>A
ENST00000645986.2:c.2411T>A	ENSP00000494409.2:p.Met804Lys
ENST00000646087.2:c.1766T>A	ENSP00000495510.2:p.Met589Lys
ENST00000646120.2:c.2360T>A	ENSP00000495291.2:p.Met787Lys
ENST00000675354.1:c.2378T>A	ENSP00000502315.1:p.Met793Lys
ENST00000378158.5:c.2393T>A	ENSP00000367400.1:p.Met798Lys
ENST00000378163.5:c.2444T>A	ENSP00000367405.1:p.Met815Lys
ENST00000378166.8:c.2429T>A	ENSP00000367408.4:p.Met810Lys
ENST00000378168.6:c.809T>A	ENSP00000367410.2:p.Met270Lys
ENST00000378179.7:c.1220T>A	ENSP00000367421.3:p.Met407Lys
ENST00000421587.6:c.2357T>A	ENSP00000400526.2:p.Met786Lys
ENST00000442742.6:c.2360T>A	ENSP00000398007.2:p.Met787Lys
NM_001126054.2:c.2360T>A	NP_001119526.1:p.Met787Lys
NM_001126055.2:c.2357T>A	NP_001119527.1:p.Met786Lys
NM_003688.3:c.2429T>A	NP_003679.2:p.Met810Lys
XM_005272686.3:c.2426T>A	XP_005272743.1:p.Met809Lys
XM_006724566.2:c.2321T>A	XP_006724629.1:p.Met774Lys
XM_011543993.1:c.2444T>A	XP_011542295.1:p.Met815Lys
XM_011543994.1:c.2408T>A	XP_011542296.1:p.Met803Lys
XM_011543995.1:c.2375T>A	XP_011542297.1:p.Met792Lys
XM_011543996.1:c.2339T>A	XP_011542298.1:p.Met780Lys
XM_011543997.1:c.1871T>A	XP_011542299.1:p.Met624Lys
XM_005272686.4:c.2426T>A	XP_005272743.1:p.Met809Lys
XM_006724566.3:c.2321T>A	XP_006724629.1:p.Met774Lys
XM_011543993.2:c.2444T>A	XP_011542295.1:p.Met815Lys
XM_011543994.2:c.2408T>A	XP_011542296.1:p.Met803Lys
XM_011543995.2:c.2375T>A	XP_011542297.1:p.Met792Lys
XM_011543996.2:c.2339T>A	XP_011542298.1:p.Met780Lys
XM_011543997.3:c.1871T>A	XP_011542299.1:p.Met624Lys
XM_024452473.1:c.1766T>A	XP_024308241.1:p.Met589Lys
NM_001367721.1:c.2444T>A MANE Select	NP_001354650.1:p.Met815Lys