Canonical Allele Identifier: CA412988715

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41379708C>T (hg19) ; chrX:g.41520455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520455C>T , CM000685.2:g.41520455C>T	GRCh38
NC_000023.10:g.41379708C>T , CM000685.1:g.41379708C>T	GRCh37
NC_000023.9:g.41264652C>T	NCBI36
NG_016754.1:g.407580G>A
NG_016754.2:g.407580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2695G>A	ENSP00000367396.2:p.Ala899Thr
ENST00000378158.6:c.2692G>A	ENSP00000367400.2:p.Ala898Thr
ENST00000378163.7:c.2746G>A MANE Select	ENSP00000367405.1:p.Ala916Thr
ENST00000378166.9:c.2644G>A	ENSP00000367408.5:p.Ala882Thr
ENST00000378168.8:c.2749G>A	ENSP00000367410.4:p.Ala917Thr
ENST00000378179.9:c.1366G>A	ENSP00000367421.4:p.Ala456Thr
ENST00000421587.8:c.2677G>A	ENSP00000400526.4:p.Ala893Thr
ENST00000442742.7:c.2608G>A	ENSP00000398007.3:p.Ala870Thr
ENST00000642499.1:n.1525G>A
ENST00000642641.1:n.905G>A
ENST00000643733.1:c.545G>A
ENST00000644219.1:c.2728G>A	ENSP00000495357.1:p.Ala910Thr
ENST00000644347.1:c.2659G>A	ENSP00000494183.1:p.Ala887Thr
ENST00000645566.1:c.2731G>A	ENSP00000494788.1:p.Ala911Thr
ENST00000645937.2:n.2977G>A
ENST00000645986.2:c.2833G>A	ENSP00000494409.2:p.Ala945Thr
ENST00000646087.2:c.2068G>A	ENSP00000495510.2:p.Ala690Thr
ENST00000646120.2:c.2662G>A	ENSP00000495291.2:p.Ala888Thr
ENST00000675354.1:c.2680G>A	ENSP00000502315.1:p.Ala894Thr
ENST00000378158.5:c.2695G>A	ENSP00000367400.1:p.Ala899Thr
ENST00000378163.5:c.2746G>A	ENSP00000367405.1:p.Ala916Thr
ENST00000378166.8:c.2731G>A	ENSP00000367408.4:p.Ala911Thr
ENST00000378168.6:c.1111G>A	ENSP00000367410.2:p.Ala371Thr
ENST00000378179.7:c.1522G>A	ENSP00000367421.3:p.Ala508Thr
ENST00000421587.6:c.2659G>A	ENSP00000400526.2:p.Ala887Thr
ENST00000442742.6:c.2662G>A	ENSP00000398007.2:p.Ala888Thr
NM_001126054.2:c.2662G>A	NP_001119526.1:p.Ala888Thr
NM_001126055.2:c.2659G>A	NP_001119527.1:p.Ala887Thr
NM_003688.3:c.2731G>A	NP_003679.2:p.Ala911Thr
XM_005272686.3:c.2728G>A	XP_005272743.1:p.Ala910Thr
XM_006724566.2:c.2623G>A	XP_006724629.1:p.Ala875Thr
XM_011543993.1:c.2746G>A	XP_011542295.1:p.Ala916Thr
XM_011543994.1:c.2710G>A	XP_011542296.1:p.Ala904Thr
XM_011543995.1:c.2677G>A	XP_011542297.1:p.Ala893Thr
XM_011543996.1:c.2641G>A	XP_011542298.1:p.Ala881Thr
XM_011543997.1:c.2173G>A	XP_011542299.1:p.Ala725Thr
XM_005272686.4:c.2728G>A	XP_005272743.1:p.Ala910Thr
XM_006724566.3:c.2623G>A	XP_006724629.1:p.Ala875Thr
XM_011543993.2:c.2746G>A	XP_011542295.1:p.Ala916Thr
XM_011543994.2:c.2710G>A	XP_011542296.1:p.Ala904Thr
XM_011543995.2:c.2677G>A	XP_011542297.1:p.Ala893Thr
XM_011543996.2:c.2641G>A	XP_011542298.1:p.Ala881Thr
XM_011543997.3:c.2173G>A	XP_011542299.1:p.Ala725Thr
XM_024452473.1:c.2068G>A	XP_024308241.1:p.Ala690Thr
NM_001367721.1:c.2746G>A MANE Select	NP_001354650.1:p.Ala916Thr