Canonical Allele Identifier: CA412990103

Gene: CASK

Linked Data

• MyVariant Identifiers: chrX:g.41390316T>G (hg19) ; chrX:g.41531063T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531063T>G , CM000685.2:g.41531063T>G	GRCh38
NC_000023.10:g.41390316T>G , CM000685.1:g.41390316T>G	GRCh37
NC_000023.9:g.41275260T>G	NCBI36
NG_016754.1:g.396972A>C
NG_016754.2:g.396972A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2413A>C	ENSP00000367396.2:p.Thr805Pro
ENST00000378158.6:c.2410A>C	ENSP00000367400.2:p.Thr804Pro
ENST00000378163.7:c.2464A>C MANE Select	ENSP00000367405.1:p.Thr822Pro
ENST00000378166.9:c.2362A>C	ENSP00000367408.5:p.Thr788Pro
ENST00000378168.8:c.2467A>C	ENSP00000367410.4:p.Thr823Pro
ENST00000378179.9:c.1084A>C	ENSP00000367421.4:p.Thr362Pro
ENST00000421587.8:c.2395A>C	ENSP00000400526.4:p.Thr799Pro
ENST00000442742.7:c.2326A>C	ENSP00000398007.3:p.Thr776Pro
ENST00000642499.1:n.1243A>C
ENST00000643733.1:c.236A>C
ENST00000644219.1:c.2446A>C	ENSP00000495357.1:p.Thr816Pro
ENST00000644347.1:c.2377A>C	ENSP00000494183.1:p.Thr793Pro
ENST00000645566.1:c.2449A>C	ENSP00000494788.1:p.Thr817Pro
ENST00000645937.2:n.2695A>C
ENST00000645986.2:c.2431A>C	ENSP00000494409.2:p.Thr811Pro
ENST00000646087.2:c.1786A>C	ENSP00000495510.2:p.Thr596Pro
ENST00000646120.2:c.2380A>C	ENSP00000495291.2:p.Thr794Pro
ENST00000675354.1:c.2398A>C	ENSP00000502315.1:p.Thr800Pro
ENST00000378158.5:c.2413A>C	ENSP00000367400.1:p.Thr805Pro
ENST00000378163.5:c.2464A>C	ENSP00000367405.1:p.Thr822Pro
ENST00000378166.8:c.2449A>C	ENSP00000367408.4:p.Thr817Pro
ENST00000378168.6:c.829A>C	ENSP00000367410.2:p.Thr277Pro
ENST00000378179.7:c.1240A>C	ENSP00000367421.3:p.Thr414Pro
ENST00000421587.6:c.2377A>C	ENSP00000400526.2:p.Thr793Pro
ENST00000442742.6:c.2380A>C	ENSP00000398007.2:p.Thr794Pro
NM_001126054.2:c.2380A>C	NP_001119526.1:p.Thr794Pro
NM_001126055.2:c.2377A>C	NP_001119527.1:p.Thr793Pro
NM_003688.3:c.2449A>C	NP_003679.2:p.Thr817Pro
XM_005272686.3:c.2446A>C	XP_005272743.1:p.Thr816Pro
XM_006724566.2:c.2341A>C	XP_006724629.1:p.Thr781Pro
XM_011543993.1:c.2464A>C	XP_011542295.1:p.Thr822Pro
XM_011543994.1:c.2428A>C	XP_011542296.1:p.Thr810Pro
XM_011543995.1:c.2395A>C	XP_011542297.1:p.Thr799Pro
XM_011543996.1:c.2359A>C	XP_011542298.1:p.Thr787Pro
XM_011543997.1:c.1891A>C	XP_011542299.1:p.Thr631Pro
XM_005272686.4:c.2446A>C	XP_005272743.1:p.Thr816Pro
XM_006724566.3:c.2341A>C	XP_006724629.1:p.Thr781Pro
XM_011543993.2:c.2464A>C	XP_011542295.1:p.Thr822Pro
XM_011543994.2:c.2428A>C	XP_011542296.1:p.Thr810Pro
XM_011543995.2:c.2395A>C	XP_011542297.1:p.Thr799Pro
XM_011543996.2:c.2359A>C	XP_011542298.1:p.Thr787Pro
XM_011543997.3:c.1891A>C	XP_011542299.1:p.Thr631Pro
XM_024452473.1:c.1786A>C	XP_024308241.1:p.Thr596Pro
NM_001367721.1:c.2464A>C MANE Select	NP_001354650.1:p.Thr822Pro