Canonical Allele Identifier: CA412989968

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390278T>C (hg19) ; chrX:g.41531025T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531025T>C , CM000685.2:g.41531025T>C	GRCh38
NC_000023.10:g.41390278T>C , CM000685.1:g.41390278T>C	GRCh37
NC_000023.9:g.41275222T>C	NCBI36
NG_016754.1:g.397010A>G
NG_016754.2:g.397010A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2451A>G	ENSP00000367396.2:p.Ile817Met
ENST00000378158.6:c.2448A>G	ENSP00000367400.2:p.Ile816Met
ENST00000378163.7:c.2502A>G MANE Select	ENSP00000367405.1:p.Ile834Met
ENST00000378166.9:c.2400A>G	ENSP00000367408.5:p.Ile800Met
ENST00000378168.8:c.2505A>G	ENSP00000367410.4:p.Ile835Met
ENST00000378179.9:c.1122A>G	ENSP00000367421.4:p.Ile374Met
ENST00000421587.8:c.2433A>G	ENSP00000400526.4:p.Ile811Met
ENST00000442742.7:c.2364A>G	ENSP00000398007.3:p.Ile788Met
ENST00000642499.1:n.1281A>G
ENST00000643733.1:c.274A>G
ENST00000644219.1:c.2484A>G	ENSP00000495357.1:p.Ile828Met
ENST00000644347.1:c.2415A>G	ENSP00000494183.1:p.Ile805Met
ENST00000645566.1:c.2487A>G	ENSP00000494788.1:p.Ile829Met
ENST00000645937.2:n.2733A>G
ENST00000645986.2:c.2469A>G	ENSP00000494409.2:p.Ile823Met
ENST00000646087.2:c.1824A>G	ENSP00000495510.2:p.Ile608Met
ENST00000646120.2:c.2418A>G	ENSP00000495291.2:p.Ile806Met
ENST00000675354.1:c.2436A>G	ENSP00000502315.1:p.Ile812Met
ENST00000378158.5:c.2451A>G	ENSP00000367400.1:p.Ile817Met
ENST00000378163.5:c.2502A>G	ENSP00000367405.1:p.Ile834Met
ENST00000378166.8:c.2487A>G	ENSP00000367408.4:p.Ile829Met
ENST00000378168.6:c.867A>G	ENSP00000367410.2:p.Ile289Met
ENST00000378179.7:c.1278A>G	ENSP00000367421.3:p.Ile426Met
ENST00000421587.6:c.2415A>G	ENSP00000400526.2:p.Ile805Met
ENST00000442742.6:c.2418A>G	ENSP00000398007.2:p.Ile806Met
NM_001126054.2:c.2418A>G	NP_001119526.1:p.Ile806Met
NM_001126055.2:c.2415A>G	NP_001119527.1:p.Ile805Met
NM_003688.3:c.2487A>G	NP_003679.2:p.Ile829Met
XM_005272686.3:c.2484A>G	XP_005272743.1:p.Ile828Met
XM_006724566.2:c.2379A>G	XP_006724629.1:p.Ile793Met
XM_011543993.1:c.2502A>G	XP_011542295.1:p.Ile834Met
XM_011543994.1:c.2466A>G	XP_011542296.1:p.Ile822Met
XM_011543995.1:c.2433A>G	XP_011542297.1:p.Ile811Met
XM_011543996.1:c.2397A>G	XP_011542298.1:p.Ile799Met
XM_011543997.1:c.1929A>G	XP_011542299.1:p.Ile643Met
XM_005272686.4:c.2484A>G	XP_005272743.1:p.Ile828Met
XM_006724566.3:c.2379A>G	XP_006724629.1:p.Ile793Met
XM_011543993.2:c.2502A>G	XP_011542295.1:p.Ile834Met
XM_011543994.2:c.2466A>G	XP_011542296.1:p.Ile822Met
XM_011543995.2:c.2433A>G	XP_011542297.1:p.Ile811Met
XM_011543996.2:c.2397A>G	XP_011542298.1:p.Ile799Met
XM_011543997.3:c.1929A>G	XP_011542299.1:p.Ile643Met
XM_024452473.1:c.1824A>G	XP_024308241.1:p.Ile608Met
NM_001367721.1:c.2502A>G MANE Select	NP_001354650.1:p.Ile834Met