Canonical Allele Identifier: CA412988720

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41379711T>G (hg19) ; chrX:g.41520458T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520458T>G , CM000685.2:g.41520458T>G	GRCh38
NC_000023.10:g.41379711T>G , CM000685.1:g.41379711T>G	GRCh37
NC_000023.9:g.41264655T>G	NCBI36
NG_016754.1:g.407577A>C
NG_016754.2:g.407577A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2692A>C	ENSP00000367396.2:p.Thr898Pro
ENST00000378158.6:c.2689A>C	ENSP00000367400.2:p.Thr897Pro
ENST00000378163.7:c.2743A>C MANE Select	ENSP00000367405.1:p.Thr915Pro
ENST00000378166.9:c.2641A>C	ENSP00000367408.5:p.Thr881Pro
ENST00000378168.8:c.2746A>C	ENSP00000367410.4:p.Thr916Pro
ENST00000378179.9:c.1363A>C	ENSP00000367421.4:p.Thr455Pro
ENST00000421587.8:c.2674A>C	ENSP00000400526.4:p.Thr892Pro
ENST00000442742.7:c.2605A>C	ENSP00000398007.3:p.Thr869Pro
ENST00000642499.1:n.1522A>C
ENST00000642641.1:n.902A>C
ENST00000643733.1:c.542A>C
ENST00000644219.1:c.2725A>C	ENSP00000495357.1:p.Thr909Pro
ENST00000644347.1:c.2656A>C	ENSP00000494183.1:p.Thr886Pro
ENST00000645566.1:c.2728A>C	ENSP00000494788.1:p.Thr910Pro
ENST00000645937.2:n.2974A>C
ENST00000645986.2:c.2830A>C	ENSP00000494409.2:p.Thr944Pro
ENST00000646087.2:c.2065A>C	ENSP00000495510.2:p.Thr689Pro
ENST00000646120.2:c.2659A>C	ENSP00000495291.2:p.Thr887Pro
ENST00000675354.1:c.2677A>C	ENSP00000502315.1:p.Thr893Pro
ENST00000378158.5:c.2692A>C	ENSP00000367400.1:p.Thr898Pro
ENST00000378163.5:c.2743A>C	ENSP00000367405.1:p.Thr915Pro
ENST00000378166.8:c.2728A>C	ENSP00000367408.4:p.Thr910Pro
ENST00000378168.6:c.1108A>C	ENSP00000367410.2:p.Thr370Pro
ENST00000378179.7:c.1519A>C	ENSP00000367421.3:p.Thr507Pro
ENST00000421587.6:c.2656A>C	ENSP00000400526.2:p.Thr886Pro
ENST00000442742.6:c.2659A>C	ENSP00000398007.2:p.Thr887Pro
NM_001126054.2:c.2659A>C	NP_001119526.1:p.Thr887Pro
NM_001126055.2:c.2656A>C	NP_001119527.1:p.Thr886Pro
NM_003688.3:c.2728A>C	NP_003679.2:p.Thr910Pro
XM_005272686.3:c.2725A>C	XP_005272743.1:p.Thr909Pro
XM_006724566.2:c.2620A>C	XP_006724629.1:p.Thr874Pro
XM_011543993.1:c.2743A>C	XP_011542295.1:p.Thr915Pro
XM_011543994.1:c.2707A>C	XP_011542296.1:p.Thr903Pro
XM_011543995.1:c.2674A>C	XP_011542297.1:p.Thr892Pro
XM_011543996.1:c.2638A>C	XP_011542298.1:p.Thr880Pro
XM_011543997.1:c.2170A>C	XP_011542299.1:p.Thr724Pro
XM_005272686.4:c.2725A>C	XP_005272743.1:p.Thr909Pro
XM_006724566.3:c.2620A>C	XP_006724629.1:p.Thr874Pro
XM_011543993.2:c.2743A>C	XP_011542295.1:p.Thr915Pro
XM_011543994.2:c.2707A>C	XP_011542296.1:p.Thr903Pro
XM_011543995.2:c.2674A>C	XP_011542297.1:p.Thr892Pro
XM_011543996.2:c.2638A>C	XP_011542298.1:p.Thr880Pro
XM_011543997.3:c.2170A>C	XP_011542299.1:p.Thr724Pro
XM_024452473.1:c.2065A>C	XP_024308241.1:p.Thr689Pro
NM_001367721.1:c.2743A>C MANE Select	NP_001354650.1:p.Thr915Pro