Canonical Allele Identifier: CA412988712

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41379707G>C (hg19) ; chrX:g.41520454G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520454G>C , CM000685.2:g.41520454G>C	GRCh38
NC_000023.10:g.41379707G>C , CM000685.1:g.41379707G>C	GRCh37
NC_000023.9:g.41264651G>C	NCBI36
NG_016754.1:g.407581C>G
NG_016754.2:g.407581C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2696C>G	ENSP00000367396.2:p.Ala899Gly
ENST00000378158.6:c.2693C>G	ENSP00000367400.2:p.Ala898Gly
ENST00000378163.7:c.2747C>G MANE Select	ENSP00000367405.1:p.Ala916Gly
ENST00000378166.9:c.2645C>G	ENSP00000367408.5:p.Ala882Gly
ENST00000378168.8:c.2750C>G	ENSP00000367410.4:p.Ala917Gly
ENST00000378179.9:c.1367C>G	ENSP00000367421.4:p.Ala456Gly
ENST00000421587.8:c.2678C>G	ENSP00000400526.4:p.Ala893Gly
ENST00000442742.7:c.2609C>G	ENSP00000398007.3:p.Ala870Gly
ENST00000642499.1:n.1526C>G
ENST00000642641.1:n.906C>G
ENST00000643733.1:c.546C>G
ENST00000644219.1:c.2729C>G	ENSP00000495357.1:p.Ala910Gly
ENST00000644347.1:c.2660C>G	ENSP00000494183.1:p.Ala887Gly
ENST00000645566.1:c.2732C>G	ENSP00000494788.1:p.Ala911Gly
ENST00000645937.2:n.2978C>G
ENST00000645986.2:c.2834C>G	ENSP00000494409.2:p.Ala945Gly
ENST00000646087.2:c.2069C>G	ENSP00000495510.2:p.Ala690Gly
ENST00000646120.2:c.2663C>G	ENSP00000495291.2:p.Ala888Gly
ENST00000675354.1:c.2681C>G	ENSP00000502315.1:p.Ala894Gly
ENST00000378158.5:c.2696C>G	ENSP00000367400.1:p.Ala899Gly
ENST00000378163.5:c.2747C>G	ENSP00000367405.1:p.Ala916Gly
ENST00000378166.8:c.2732C>G	ENSP00000367408.4:p.Ala911Gly
ENST00000378168.6:c.1112C>G	ENSP00000367410.2:p.Ala371Gly
ENST00000378179.7:c.1523C>G	ENSP00000367421.3:p.Ala508Gly
ENST00000421587.6:c.2660C>G	ENSP00000400526.2:p.Ala887Gly
ENST00000442742.6:c.2663C>G	ENSP00000398007.2:p.Ala888Gly
NM_001126054.2:c.2663C>G	NP_001119526.1:p.Ala888Gly
NM_001126055.2:c.2660C>G	NP_001119527.1:p.Ala887Gly
NM_003688.3:c.2732C>G	NP_003679.2:p.Ala911Gly
XM_005272686.3:c.2729C>G	XP_005272743.1:p.Ala910Gly
XM_006724566.2:c.2624C>G	XP_006724629.1:p.Ala875Gly
XM_011543993.1:c.2747C>G	XP_011542295.1:p.Ala916Gly
XM_011543994.1:c.2711C>G	XP_011542296.1:p.Ala904Gly
XM_011543995.1:c.2678C>G	XP_011542297.1:p.Ala893Gly
XM_011543996.1:c.2642C>G	XP_011542298.1:p.Ala881Gly
XM_011543997.1:c.2174C>G	XP_011542299.1:p.Ala725Gly
XM_005272686.4:c.2729C>G	XP_005272743.1:p.Ala910Gly
XM_006724566.3:c.2624C>G	XP_006724629.1:p.Ala875Gly
XM_011543993.2:c.2747C>G	XP_011542295.1:p.Ala916Gly
XM_011543994.2:c.2711C>G	XP_011542296.1:p.Ala904Gly
XM_011543995.2:c.2678C>G	XP_011542297.1:p.Ala893Gly
XM_011543996.2:c.2642C>G	XP_011542298.1:p.Ala881Gly
XM_011543997.3:c.2174C>G	XP_011542299.1:p.Ala725Gly
XM_024452473.1:c.2069C>G	XP_024308241.1:p.Ala690Gly
NM_001367721.1:c.2747C>G MANE Select	NP_001354650.1:p.Ala916Gly