Canonical Allele Identifier: CA16621890

Gene: CASK

Linked Data

• ClinVar Variation Id: 425493
• ClinVar RCV Id: RCV000488408
• dbSNP Id: rs1064797367
• gnomAD v4: X-41559816-A-G
• MyVariant Identifiers: chrX:g.41419069A>G (hg19) ; chrX:g.41559816A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41559816A>G , CM000685.2:g.41559816A>G	GRCh38
NC_000023.10:g.41419069A>G , CM000685.1:g.41419069A>G	GRCh37
NC_000023.9:g.41304013A>G	NCBI36
NG_016754.1:g.368219T>C
NG_016754.2:g.368219T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378154.3:c.1700T>C	ENSP00000367396.2:p.Ile567Thr
ENST00000378158.6:c.1682T>C	ENSP00000367400.2:p.Ile561Thr
ENST00000378163.7:c.1700T>C MANE Select	ENSP00000367405.1:p.Ile567Thr
ENST00000378166.9:c.1682T>C	ENSP00000367408.5:p.Ile561Thr
ENST00000378168.8:c.1718T>C	ENSP00000367410.4:p.Ile573Thr
ENST00000378179.9:c.389T>C	ENSP00000367421.4:p.Ile130Thr
ENST00000421587.8:c.1700T>C	ENSP00000400526.4:p.Ile567Thr
ENST00000442742.7:c.1682T>C	ENSP00000398007.3:p.Ile561Thr
ENST00000472704.3:n.311T>C
ENST00000642584.1:n.1356T>C
ENST00000643043.2:c.1145T>C	ENSP00000493518.2:p.Ile382Thr
ENST00000644219.1:c.1682T>C	ENSP00000495357.1:p.Ile561Thr
ENST00000644347.1:c.1682T>C	ENSP00000494183.1:p.Ile561Thr
ENST00000645566.1:c.1700T>C	ENSP00000494788.1:p.Ile567Thr
ENST00000645937.2:n.2000T>C
ENST00000645986.2:c.1682T>C	ENSP00000494409.2:p.Ile561Thr
ENST00000646087.2:c.1127T>C	ENSP00000495510.2:p.Ile376Thr
ENST00000646120.2:c.1700T>C	ENSP00000495291.2:p.Ile567Thr
ENST00000675354.1:c.1718T>C	ENSP00000502315.1:p.Ile573Thr
ENST00000378154.1:c.1700T>C	ENSP00000367396.1:p.Ile567Thr
ENST00000378158.5:c.1700T>C	ENSP00000367400.1:p.Ile567Thr
ENST00000378163.5:c.1700T>C	ENSP00000367405.1:p.Ile567Thr
ENST00000378166.8:c.1700T>C	ENSP00000367408.4:p.Ile567Thr
ENST00000378168.6:c.101T>C	ENSP00000367410.2:p.Ile34Thr
ENST00000378179.7:c.545T>C	ENSP00000367421.3:p.Ile182Thr
ENST00000421587.6:c.1682T>C	ENSP00000400526.2:p.Ile561Thr
ENST00000442742.6:c.1700T>C	ENSP00000398007.2:p.Ile567Thr
ENST00000472704.1:n.311T>C
NM_001126054.2:c.1700T>C	NP_001119526.1:p.Ile567Thr
NM_001126055.2:c.1682T>C	NP_001119527.1:p.Ile561Thr
NM_003688.3:c.1700T>C	NP_003679.2:p.Ile567Thr
XM_005272686.3:c.1682T>C	XP_005272743.1:p.Ile561Thr
XM_006724566.2:c.1682T>C	XP_006724629.1:p.Ile561Thr
XM_011543993.1:c.1700T>C	XP_011542295.1:p.Ile567Thr
XM_011543994.1:c.1700T>C	XP_011542296.1:p.Ile567Thr
XM_011543995.1:c.1700T>C	XP_011542297.1:p.Ile567Thr
XM_011543996.1:c.1700T>C	XP_011542298.1:p.Ile567Thr
XM_011543997.1:c.1127T>C	XP_011542299.1:p.Ile376Thr
XM_005272686.4:c.1682T>C	XP_005272743.1:p.Ile561Thr
XM_006724566.3:c.1682T>C	XP_006724629.1:p.Ile561Thr
XM_011543993.2:c.1700T>C	XP_011542295.1:p.Ile567Thr
XM_011543994.2:c.1700T>C	XP_011542296.1:p.Ile567Thr
XM_011543995.2:c.1700T>C	XP_011542297.1:p.Ile567Thr
XM_011543996.2:c.1700T>C	XP_011542298.1:p.Ile567Thr
XM_011543997.3:c.1127T>C	XP_011542299.1:p.Ile376Thr
XM_024452473.1:c.1127T>C	XP_024308241.1:p.Ile376Thr
NM_001367721.1:c.1700T>C MANE Select	NP_001354650.1:p.Ile567Thr