Canonical Allele Identifier: CA412989971

Gene: CASK

Linked Data

• ClinVar Variation Id: 1315450
• ClinVar RCV Id: RCV001774700 ; RCV002540606
• dbSNP Id: rs1372580366
• gnomAD v2: X-41390279-A-G
• gnomAD v4: X-41531026-A-G
• MyVariant Identifiers: chrX:g.41390279A>G (hg19) ; chrX:g.41531026A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531026A>G , CM000685.2:g.41531026A>G	GRCh38
NC_000023.10:g.41390279A>G , CM000685.1:g.41390279A>G	GRCh37
NC_000023.9:g.41275223A>G	NCBI36
NG_016754.1:g.397009T>C
NG_016754.2:g.397009T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2450T>C	ENSP00000367396.2:p.Ile817Thr
ENST00000378158.6:c.2447T>C	ENSP00000367400.2:p.Ile816Thr
ENST00000378163.7:c.2501T>C MANE Select	ENSP00000367405.1:p.Ile834Thr
ENST00000378166.9:c.2399T>C	ENSP00000367408.5:p.Ile800Thr
ENST00000378168.8:c.2504T>C	ENSP00000367410.4:p.Ile835Thr
ENST00000378179.9:c.1121T>C	ENSP00000367421.4:p.Ile374Thr
ENST00000421587.8:c.2432T>C	ENSP00000400526.4:p.Ile811Thr
ENST00000442742.7:c.2363T>C	ENSP00000398007.3:p.Ile788Thr
ENST00000642499.1:n.1280T>C
ENST00000643733.1:c.273T>C
ENST00000644219.1:c.2483T>C	ENSP00000495357.1:p.Ile828Thr
ENST00000644347.1:c.2414T>C	ENSP00000494183.1:p.Ile805Thr
ENST00000645566.1:c.2486T>C	ENSP00000494788.1:p.Ile829Thr
ENST00000645937.2:n.2732T>C
ENST00000645986.2:c.2468T>C	ENSP00000494409.2:p.Ile823Thr
ENST00000646087.2:c.1823T>C	ENSP00000495510.2:p.Ile608Thr
ENST00000646120.2:c.2417T>C	ENSP00000495291.2:p.Ile806Thr
ENST00000675354.1:c.2435T>C	ENSP00000502315.1:p.Ile812Thr
ENST00000378158.5:c.2450T>C	ENSP00000367400.1:p.Ile817Thr
ENST00000378163.5:c.2501T>C	ENSP00000367405.1:p.Ile834Thr
ENST00000378166.8:c.2486T>C	ENSP00000367408.4:p.Ile829Thr
ENST00000378168.6:c.866T>C	ENSP00000367410.2:p.Ile289Thr
ENST00000378179.7:c.1277T>C	ENSP00000367421.3:p.Ile426Thr
ENST00000421587.6:c.2414T>C	ENSP00000400526.2:p.Ile805Thr
ENST00000442742.6:c.2417T>C	ENSP00000398007.2:p.Ile806Thr
NM_001126054.2:c.2417T>C	NP_001119526.1:p.Ile806Thr
NM_001126055.2:c.2414T>C	NP_001119527.1:p.Ile805Thr
NM_003688.3:c.2486T>C	NP_003679.2:p.Ile829Thr
XM_005272686.3:c.2483T>C	XP_005272743.1:p.Ile828Thr
XM_006724566.2:c.2378T>C	XP_006724629.1:p.Ile793Thr
XM_011543993.1:c.2501T>C	XP_011542295.1:p.Ile834Thr
XM_011543994.1:c.2465T>C	XP_011542296.1:p.Ile822Thr
XM_011543995.1:c.2432T>C	XP_011542297.1:p.Ile811Thr
XM_011543996.1:c.2396T>C	XP_011542298.1:p.Ile799Thr
XM_011543997.1:c.1928T>C	XP_011542299.1:p.Ile643Thr
XM_005272686.4:c.2483T>C	XP_005272743.1:p.Ile828Thr
XM_006724566.3:c.2378T>C	XP_006724629.1:p.Ile793Thr
XM_011543993.2:c.2501T>C	XP_011542295.1:p.Ile834Thr
XM_011543994.2:c.2465T>C	XP_011542296.1:p.Ile822Thr
XM_011543995.2:c.2432T>C	XP_011542297.1:p.Ile811Thr
XM_011543996.2:c.2396T>C	XP_011542298.1:p.Ile799Thr
XM_011543997.3:c.1928T>C	XP_011542299.1:p.Ile643Thr
XM_024452473.1:c.1823T>C	XP_024308241.1:p.Ile608Thr
NM_001367721.1:c.2501T>C MANE Select	NP_001354650.1:p.Ile834Thr